NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (25 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019229.51

Allele description [Variation Report for NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)]

NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)

Other names:

p.C61G:TGT>GGT; NP_009225.1:p.Cys61Gly

HGVS:

NC_000017.11:g.43106487A>C
NG_005905.2:g.111497T>G
NM_001407571.1:c.-8T>G
NM_001407581.1:c.181T>G
NM_001407582.1:c.181T>G
NM_001407583.1:c.181T>G
NM_001407585.1:c.181T>G
NM_001407587.1:c.181T>G
NM_001407590.1:c.181T>G
NM_001407591.1:c.181T>G
NM_001407593.1:c.181T>G
NM_001407594.1:c.181T>G
NM_001407596.1:c.181T>G
NM_001407597.1:c.181T>G
NM_001407598.1:c.181T>G
NM_001407602.1:c.181T>G
NM_001407603.1:c.181T>G
NM_001407605.1:c.181T>G
NM_001407610.1:c.181T>G
NM_001407611.1:c.181T>G
NM_001407612.1:c.181T>G
NM_001407613.1:c.181T>G
NM_001407614.1:c.181T>G
NM_001407615.1:c.181T>G
NM_001407616.1:c.181T>G
NM_001407617.1:c.181T>G
NM_001407618.1:c.181T>G
NM_001407619.1:c.181T>G
NM_001407620.1:c.181T>G
NM_001407621.1:c.181T>G
NM_001407622.1:c.181T>G
NM_001407623.1:c.181T>G
NM_001407624.1:c.181T>G
NM_001407625.1:c.181T>G
NM_001407626.1:c.181T>G
NM_001407627.1:c.181T>G
NM_001407628.1:c.181T>G
NM_001407629.1:c.181T>G
NM_001407630.1:c.181T>G
NM_001407631.1:c.181T>G
NM_001407632.1:c.181T>G
NM_001407633.1:c.181T>G
NM_001407634.1:c.181T>G
NM_001407635.1:c.181T>G
NM_001407636.1:c.181T>G
NM_001407637.1:c.181T>G
NM_001407638.1:c.181T>G
NM_001407639.1:c.181T>G
NM_001407640.1:c.181T>G
NM_001407641.1:c.181T>G
NM_001407642.1:c.181T>G
NM_001407644.1:c.181T>G
NM_001407645.1:c.181T>G
NM_001407646.1:c.181T>G
NM_001407647.1:c.181T>G
NM_001407648.1:c.181T>G
NM_001407649.1:c.181T>G
NM_001407652.1:c.181T>G
NM_001407664.1:c.181T>G
NM_001407665.1:c.181T>G
NM_001407666.1:c.181T>G
NM_001407667.1:c.181T>G
NM_001407668.1:c.181T>G
NM_001407669.1:c.181T>G
NM_001407670.1:c.181T>G
NM_001407671.1:c.181T>G
NM_001407672.1:c.181T>G
NM_001407673.1:c.181T>G
NM_001407674.1:c.181T>G
NM_001407675.1:c.181T>G
NM_001407676.1:c.181T>G
NM_001407677.1:c.181T>G
NM_001407678.1:c.181T>G
NM_001407679.1:c.181T>G
NM_001407680.1:c.181T>G
NM_001407681.1:c.181T>G
NM_001407682.1:c.181T>G
NM_001407683.1:c.181T>G
NM_001407684.1:c.181T>G
NM_001407685.1:c.181T>G
NM_001407686.1:c.181T>G
NM_001407687.1:c.181T>G
NM_001407688.1:c.181T>G
NM_001407689.1:c.181T>G
NM_001407690.1:c.181T>G
NM_001407691.1:c.181T>G
NM_001407692.1:c.40T>G
NM_001407694.1:c.40T>G
NM_001407695.1:c.40T>G
NM_001407696.1:c.40T>G
NM_001407697.1:c.40T>G
NM_001407698.1:c.40T>G
NM_001407724.1:c.40T>G
NM_001407725.1:c.40T>G
NM_001407726.1:c.40T>G
NM_001407727.1:c.40T>G
NM_001407728.1:c.40T>G
NM_001407729.1:c.40T>G
NM_001407730.1:c.40T>G
NM_001407731.1:c.40T>G
NM_001407732.1:c.40T>G
NM_001407733.1:c.40T>G
NM_001407734.1:c.40T>G
NM_001407735.1:c.40T>G
NM_001407736.1:c.40T>G
NM_001407737.1:c.40T>G
NM_001407738.1:c.40T>G
NM_001407739.1:c.40T>G
NM_001407740.1:c.40T>G
NM_001407741.1:c.40T>G
NM_001407742.1:c.40T>G
NM_001407743.1:c.40T>G
NM_001407744.1:c.40T>G
NM_001407745.1:c.40T>G
NM_001407746.1:c.40T>G
NM_001407747.1:c.40T>G
NM_001407748.1:c.40T>G
NM_001407749.1:c.40T>G
NM_001407750.1:c.40T>G
NM_001407751.1:c.40T>G
NM_001407752.1:c.40T>G
NM_001407838.1:c.40T>G
NM_001407839.1:c.40T>G
NM_001407841.1:c.40T>G
NM_001407842.1:c.40T>G
NM_001407843.1:c.40T>G
NM_001407844.1:c.40T>G
NM_001407845.1:c.40T>G
NM_001407846.1:c.40T>G
NM_001407847.1:c.40T>G
NM_001407848.1:c.40T>G
NM_001407849.1:c.40T>G
NM_001407850.1:c.40T>G
NM_001407851.1:c.40T>G
NM_001407852.1:c.40T>G
NM_001407853.1:c.-8T>G
NM_001407854.1:c.181T>G
NM_001407858.1:c.181T>G
NM_001407859.1:c.181T>G
NM_001407860.1:c.181T>G
NM_001407861.1:c.181T>G
NM_001407863.1:c.181T>G
NM_001407879.1:c.-8T>G
NM_001407881.1:c.-8T>G
NM_001407882.1:c.-8T>G
NM_001407884.1:c.-8T>G
NM_001407885.1:c.-8T>G
NM_001407886.1:c.-8T>G
NM_001407887.1:c.-8T>G
NM_001407889.1:c.-8T>G
NM_001407894.1:c.-8T>G
NM_001407895.1:c.-8T>G
NM_001407896.1:c.-8T>G
NM_001407897.1:c.-8T>G
NM_001407898.1:c.-8T>G
NM_001407899.1:c.-8T>G
NM_001407900.1:c.-8T>G
NM_001407902.1:c.-8T>G
NM_001407904.1:c.-8T>G
NM_001407906.1:c.-8T>G
NM_001407907.1:c.-8T>G
NM_001407908.1:c.-8T>G
NM_001407909.1:c.-8T>G
NM_001407910.1:c.-8T>G
NM_001407915.1:c.-8T>G
NM_001407916.1:c.-8T>G
NM_001407917.1:c.-8T>G
NM_001407918.1:c.-8T>G
NM_001407919.1:c.181T>G
NM_001407920.1:c.40T>G
NM_001407921.1:c.40T>G
NM_001407922.1:c.40T>G
NM_001407923.1:c.40T>G
NM_001407924.1:c.40T>G
NM_001407925.1:c.40T>G
NM_001407926.1:c.40T>G
NM_001407927.1:c.40T>G
NM_001407928.1:c.40T>G
NM_001407929.1:c.40T>G
NM_001407930.1:c.40T>G
NM_001407931.1:c.40T>G
NM_001407932.1:c.40T>G
NM_001407933.1:c.40T>G
NM_001407934.1:c.40T>G
NM_001407935.1:c.40T>G
NM_001407936.1:c.40T>G
NM_001407937.1:c.181T>G
NM_001407938.1:c.181T>G
NM_001407939.1:c.181T>G
NM_001407940.1:c.181T>G
NM_001407941.1:c.181T>G
NM_001407942.1:c.40T>G
NM_001407943.1:c.40T>G
NM_001407944.1:c.40T>G
NM_001407945.1:c.40T>G
NM_001407946.1:c.-8T>G
NM_001407947.1:c.-8T>G
NM_001407948.1:c.-8T>G
NM_001407949.1:c.-8T>G
NM_001407950.1:c.-8T>G
NM_001407951.1:c.-8T>G
NM_001407952.1:c.-8T>G
NM_001407953.1:c.-8T>G
NM_001407954.1:c.-8T>G
NM_001407955.1:c.-8T>G
NM_001407956.1:c.-8T>G
NM_001407957.1:c.-8T>G
NM_001407958.1:c.-8T>G
NM_001407964.1:c.40T>G
NM_001407968.1:c.181T>G
NM_001407969.1:c.181T>G
NM_001407970.1:c.181T>G
NM_001407971.1:c.181T>G
NM_001407972.1:c.181T>G
NM_001407973.1:c.181T>G
NM_001407974.1:c.181T>G
NM_001407975.1:c.181T>G
NM_001407976.1:c.181T>G
NM_001407977.1:c.181T>G
NM_001407978.1:c.181T>G
NM_001407979.1:c.181T>G
NM_001407980.1:c.181T>G
NM_001407981.1:c.181T>G
NM_001407982.1:c.181T>G
NM_001407983.1:c.181T>G
NM_001407984.1:c.181T>G
NM_001407985.1:c.181T>G
NM_001407986.1:c.181T>G
NM_001407990.1:c.181T>G
NM_001407991.1:c.181T>G
NM_001407992.1:c.181T>G
NM_001407993.1:c.181T>G
NM_001408392.1:c.181T>G
NM_001408396.1:c.181T>G
NM_001408397.1:c.181T>G
NM_001408398.1:c.181T>G
NM_001408399.1:c.181T>G
NM_001408400.1:c.181T>G
NM_001408401.1:c.181T>G
NM_001408402.1:c.181T>G
NM_001408403.1:c.181T>G
NM_001408404.1:c.181T>G
NM_001408406.1:c.181T>G
NM_001408407.1:c.181T>G
NM_001408408.1:c.181T>G
NM_001408410.1:c.40T>G
NM_001408418.1:c.181T>G
NM_001408419.1:c.181T>G
NM_001408420.1:c.181T>G
NM_001408421.1:c.181T>G
NM_001408422.1:c.181T>G
NM_001408423.1:c.181T>G
NM_001408424.1:c.181T>G
NM_001408425.1:c.181T>G
NM_001408426.1:c.181T>G
NM_001408427.1:c.181T>G
NM_001408428.1:c.181T>G
NM_001408429.1:c.181T>G
NM_001408430.1:c.181T>G
NM_001408431.1:c.181T>G
NM_001408432.1:c.181T>G
NM_001408433.1:c.181T>G
NM_001408434.1:c.181T>G
NM_001408435.1:c.181T>G
NM_001408436.1:c.181T>G
NM_001408437.1:c.181T>G
NM_001408438.1:c.181T>G
NM_001408439.1:c.181T>G
NM_001408440.1:c.181T>G
NM_001408441.1:c.181T>G
NM_001408442.1:c.181T>G
NM_001408443.1:c.181T>G
NM_001408444.1:c.181T>G
NM_001408445.1:c.181T>G
NM_001408446.1:c.181T>G
NM_001408447.1:c.181T>G
NM_001408448.1:c.181T>G
NM_001408450.1:c.181T>G
NM_001408452.1:c.40T>G
NM_001408453.1:c.40T>G
NM_001408454.1:c.40T>G
NM_001408455.1:c.40T>G
NM_001408456.1:c.40T>G
NM_001408457.1:c.40T>G
NM_001408458.1:c.40T>G
NM_001408459.1:c.40T>G
NM_001408460.1:c.40T>G
NM_001408461.1:c.40T>G
NM_001408462.1:c.40T>G
NM_001408463.1:c.40T>G
NM_001408464.1:c.40T>G
NM_001408465.1:c.40T>G
NM_001408466.1:c.40T>G
NM_001408467.1:c.40T>G
NM_001408468.1:c.40T>G
NM_001408469.1:c.40T>G
NM_001408470.1:c.40T>G
NM_001408472.1:c.181T>G
NM_001408473.1:c.181T>G
NM_001408478.1:c.-8T>G
NM_001408479.1:c.-8T>G
NM_001408480.1:c.-8T>G
NM_001408481.1:c.-8T>G
NM_001408482.1:c.-8T>G
NM_001408483.1:c.-8T>G
NM_001408484.1:c.-8T>G
NM_001408485.1:c.-8T>G
NM_001408489.1:c.-8T>G
NM_001408490.1:c.-8T>G
NM_001408491.1:c.-8T>G
NM_001408492.1:c.-8T>G
NM_001408493.1:c.-8T>G
NM_001408494.1:c.181T>G
NM_001408495.1:c.181T>G
NM_001408496.1:c.40T>G
NM_001408497.1:c.40T>G
NM_001408498.1:c.40T>G
NM_001408499.1:c.40T>G
NM_001408500.1:c.40T>G
NM_001408501.1:c.40T>G
NM_001408502.1:c.-8T>G
NM_001408503.1:c.40T>G
NM_001408504.1:c.40T>G
NM_001408505.1:c.40T>G
NM_001408506.1:c.-8T>G
NM_001408507.1:c.-8T>G
NM_001408508.1:c.-8T>G
NM_001408509.1:c.-8T>G
NM_001408511.1:c.40T>G
NM_001408513.1:c.-8T>G
NM_001408514.1:c.-8T>G
NM_007294.4:c.181T>GMANE SELECT
NM_007297.4:c.40T>G
NM_007298.4:c.181T>G
NM_007299.4:c.181T>G
NM_007300.4:c.181T>G
NM_007304.2:c.181T>G
NP_001394510.1:p.Cys61Gly
NP_001394511.1:p.Cys61Gly
NP_001394512.1:p.Cys61Gly
NP_001394514.1:p.Cys61Gly
NP_001394516.1:p.Cys61Gly
NP_001394519.1:p.Cys61Gly
NP_001394520.1:p.Cys61Gly
NP_001394522.1:p.Cys61Gly
NP_001394523.1:p.Cys61Gly
NP_001394525.1:p.Cys61Gly
NP_001394526.1:p.Cys61Gly
NP_001394527.1:p.Cys61Gly
NP_001394531.1:p.Cys61Gly
NP_001394532.1:p.Cys61Gly
NP_001394534.1:p.Cys61Gly
NP_001394539.1:p.Cys61Gly
NP_001394540.1:p.Cys61Gly
NP_001394541.1:p.Cys61Gly
NP_001394542.1:p.Cys61Gly
NP_001394543.1:p.Cys61Gly
NP_001394544.1:p.Cys61Gly
NP_001394545.1:p.Cys61Gly
NP_001394546.1:p.Cys61Gly
NP_001394547.1:p.Cys61Gly
NP_001394548.1:p.Cys61Gly
NP_001394549.1:p.Cys61Gly
NP_001394550.1:p.Cys61Gly
NP_001394551.1:p.Cys61Gly
NP_001394552.1:p.Cys61Gly
NP_001394553.1:p.Cys61Gly
NP_001394554.1:p.Cys61Gly
NP_001394555.1:p.Cys61Gly
NP_001394556.1:p.Cys61Gly
NP_001394557.1:p.Cys61Gly
NP_001394558.1:p.Cys61Gly
NP_001394559.1:p.Cys61Gly
NP_001394560.1:p.Cys61Gly
NP_001394561.1:p.Cys61Gly
NP_001394562.1:p.Cys61Gly
NP_001394563.1:p.Cys61Gly
NP_001394564.1:p.Cys61Gly
NP_001394565.1:p.Cys61Gly
NP_001394566.1:p.Cys61Gly
NP_001394567.1:p.Cys61Gly
NP_001394568.1:p.Cys61Gly
NP_001394569.1:p.Cys61Gly
NP_001394570.1:p.Cys61Gly
NP_001394571.1:p.Cys61Gly
NP_001394573.1:p.Cys61Gly
NP_001394574.1:p.Cys61Gly
NP_001394575.1:p.Cys61Gly
NP_001394576.1:p.Cys61Gly
NP_001394577.1:p.Cys61Gly
NP_001394578.1:p.Cys61Gly
NP_001394581.1:p.Cys61Gly
NP_001394593.1:p.Cys61Gly
NP_001394594.1:p.Cys61Gly
NP_001394595.1:p.Cys61Gly
NP_001394596.1:p.Cys61Gly
NP_001394597.1:p.Cys61Gly
NP_001394598.1:p.Cys61Gly
NP_001394599.1:p.Cys61Gly
NP_001394600.1:p.Cys61Gly
NP_001394601.1:p.Cys61Gly
NP_001394602.1:p.Cys61Gly
NP_001394603.1:p.Cys61Gly
NP_001394604.1:p.Cys61Gly
NP_001394605.1:p.Cys61Gly
NP_001394606.1:p.Cys61Gly
NP_001394607.1:p.Cys61Gly
NP_001394608.1:p.Cys61Gly
NP_001394609.1:p.Cys61Gly
NP_001394610.1:p.Cys61Gly
NP_001394611.1:p.Cys61Gly
NP_001394612.1:p.Cys61Gly
NP_001394613.1:p.Cys61Gly
NP_001394614.1:p.Cys61Gly
NP_001394615.1:p.Cys61Gly
NP_001394616.1:p.Cys61Gly
NP_001394617.1:p.Cys61Gly
NP_001394618.1:p.Cys61Gly
NP_001394619.1:p.Cys61Gly
NP_001394620.1:p.Cys61Gly
NP_001394621.1:p.Cys14Gly
NP_001394623.1:p.Cys14Gly
NP_001394624.1:p.Cys14Gly
NP_001394625.1:p.Cys14Gly
NP_001394626.1:p.Cys14Gly
NP_001394627.1:p.Cys14Gly
NP_001394653.1:p.Cys14Gly
NP_001394654.1:p.Cys14Gly
NP_001394655.1:p.Cys14Gly
NP_001394656.1:p.Cys14Gly
NP_001394657.1:p.Cys14Gly
NP_001394658.1:p.Cys14Gly
NP_001394659.1:p.Cys14Gly
NP_001394660.1:p.Cys14Gly
NP_001394661.1:p.Cys14Gly
NP_001394662.1:p.Cys14Gly
NP_001394663.1:p.Cys14Gly
NP_001394664.1:p.Cys14Gly
NP_001394665.1:p.Cys14Gly
NP_001394666.1:p.Cys14Gly
NP_001394667.1:p.Cys14Gly
NP_001394668.1:p.Cys14Gly
NP_001394669.1:p.Cys14Gly
NP_001394670.1:p.Cys14Gly
NP_001394671.1:p.Cys14Gly
NP_001394672.1:p.Cys14Gly
NP_001394673.1:p.Cys14Gly
NP_001394674.1:p.Cys14Gly
NP_001394675.1:p.Cys14Gly
NP_001394676.1:p.Cys14Gly
NP_001394677.1:p.Cys14Gly
NP_001394678.1:p.Cys14Gly
NP_001394679.1:p.Cys14Gly
NP_001394680.1:p.Cys14Gly
NP_001394681.1:p.Cys14Gly
NP_001394767.1:p.Cys14Gly
NP_001394768.1:p.Cys14Gly
NP_001394770.1:p.Cys14Gly
NP_001394771.1:p.Cys14Gly
NP_001394772.1:p.Cys14Gly
NP_001394773.1:p.Cys14Gly
NP_001394774.1:p.Cys14Gly
NP_001394775.1:p.Cys14Gly
NP_001394776.1:p.Cys14Gly
NP_001394777.1:p.Cys14Gly
NP_001394778.1:p.Cys14Gly
NP_001394779.1:p.Cys14Gly
NP_001394780.1:p.Cys14Gly
NP_001394781.1:p.Cys14Gly
NP_001394783.1:p.Cys61Gly
NP_001394787.1:p.Cys61Gly
NP_001394788.1:p.Cys61Gly
NP_001394789.1:p.Cys61Gly
NP_001394790.1:p.Cys61Gly
NP_001394792.1:p.Cys61Gly
NP_001394848.1:p.Cys61Gly
NP_001394849.1:p.Cys14Gly
NP_001394850.1:p.Cys14Gly
NP_001394851.1:p.Cys14Gly
NP_001394852.1:p.Cys14Gly
NP_001394853.1:p.Cys14Gly
NP_001394854.1:p.Cys14Gly
NP_001394855.1:p.Cys14Gly
NP_001394856.1:p.Cys14Gly
NP_001394857.1:p.Cys14Gly
NP_001394858.1:p.Cys14Gly
NP_001394859.1:p.Cys14Gly
NP_001394860.1:p.Cys14Gly
NP_001394861.1:p.Cys14Gly
NP_001394862.1:p.Cys14Gly
NP_001394863.1:p.Cys14Gly
NP_001394864.1:p.Cys14Gly
NP_001394865.1:p.Cys14Gly
NP_001394866.1:p.Cys61Gly
NP_001394867.1:p.Cys61Gly
NP_001394868.1:p.Cys61Gly
NP_001394869.1:p.Cys61Gly
NP_001394870.1:p.Cys61Gly
NP_001394871.1:p.Cys14Gly
NP_001394872.1:p.Cys14Gly
NP_001394873.1:p.Cys14Gly
NP_001394874.1:p.Cys14Gly
NP_001394893.1:p.Cys14Gly
NP_001394897.1:p.Cys61Gly
NP_001394898.1:p.Cys61Gly
NP_001394899.1:p.Cys61Gly
NP_001394900.1:p.Cys61Gly
NP_001394901.1:p.Cys61Gly
NP_001394902.1:p.Cys61Gly
NP_001394903.1:p.Cys61Gly
NP_001394904.1:p.Cys61Gly
NP_001394905.1:p.Cys61Gly
NP_001394906.1:p.Cys61Gly
NP_001394907.1:p.Cys61Gly
NP_001394908.1:p.Cys61Gly
NP_001394909.1:p.Cys61Gly
NP_001394910.1:p.Cys61Gly
NP_001394911.1:p.Cys61Gly
NP_001394912.1:p.Cys61Gly
NP_001394913.1:p.Cys61Gly
NP_001394914.1:p.Cys61Gly
NP_001394915.1:p.Cys61Gly
NP_001394919.1:p.Cys61Gly
NP_001394920.1:p.Cys61Gly
NP_001394921.1:p.Cys61Gly
NP_001394922.1:p.Cys61Gly
NP_001395321.1:p.Cys61Gly
NP_001395325.1:p.Cys61Gly
NP_001395326.1:p.Cys61Gly
NP_001395327.1:p.Cys61Gly
NP_001395328.1:p.Cys61Gly
NP_001395329.1:p.Cys61Gly
NP_001395330.1:p.Cys61Gly
NP_001395331.1:p.Cys61Gly
NP_001395332.1:p.Cys61Gly
NP_001395333.1:p.Cys61Gly
NP_001395335.1:p.Cys61Gly
NP_001395336.1:p.Cys61Gly
NP_001395337.1:p.Cys61Gly
NP_001395339.1:p.Cys14Gly
NP_001395347.1:p.Cys61Gly
NP_001395348.1:p.Cys61Gly
NP_001395349.1:p.Cys61Gly
NP_001395350.1:p.Cys61Gly
NP_001395351.1:p.Cys61Gly
NP_001395352.1:p.Cys61Gly
NP_001395353.1:p.Cys61Gly
NP_001395354.1:p.Cys61Gly
NP_001395355.1:p.Cys61Gly
NP_001395356.1:p.Cys61Gly
NP_001395357.1:p.Cys61Gly
NP_001395358.1:p.Cys61Gly
NP_001395359.1:p.Cys61Gly
NP_001395360.1:p.Cys61Gly
NP_001395361.1:p.Cys61Gly
NP_001395362.1:p.Cys61Gly
NP_001395363.1:p.Cys61Gly
NP_001395364.1:p.Cys61Gly
NP_001395365.1:p.Cys61Gly
NP_001395366.1:p.Cys61Gly
NP_001395367.1:p.Cys61Gly
NP_001395368.1:p.Cys61Gly
NP_001395369.1:p.Cys61Gly
NP_001395370.1:p.Cys61Gly
NP_001395371.1:p.Cys61Gly
NP_001395372.1:p.Cys61Gly
NP_001395373.1:p.Cys61Gly
NP_001395374.1:p.Cys61Gly
NP_001395375.1:p.Cys61Gly
NP_001395376.1:p.Cys61Gly
NP_001395377.1:p.Cys61Gly
NP_001395379.1:p.Cys61Gly
NP_001395381.1:p.Cys14Gly
NP_001395382.1:p.Cys14Gly
NP_001395383.1:p.Cys14Gly
NP_001395384.1:p.Cys14Gly
NP_001395385.1:p.Cys14Gly
NP_001395386.1:p.Cys14Gly
NP_001395387.1:p.Cys14Gly
NP_001395388.1:p.Cys14Gly
NP_001395389.1:p.Cys14Gly
NP_001395390.1:p.Cys14Gly
NP_001395391.1:p.Cys14Gly
NP_001395392.1:p.Cys14Gly
NP_001395393.1:p.Cys14Gly
NP_001395394.1:p.Cys14Gly
NP_001395395.1:p.Cys14Gly
NP_001395396.1:p.Cys14Gly
NP_001395397.1:p.Cys14Gly
NP_001395398.1:p.Cys14Gly
NP_001395399.1:p.Cys14Gly
NP_001395401.1:p.Cys61Gly
NP_001395402.1:p.Cys61Gly
NP_001395423.1:p.Cys61Gly
NP_001395424.1:p.Cys61Gly
NP_001395425.1:p.Cys14Gly
NP_001395426.1:p.Cys14Gly
NP_001395427.1:p.Cys14Gly
NP_001395428.1:p.Cys14Gly
NP_001395429.1:p.Cys14Gly
NP_001395430.1:p.Cys14Gly
NP_001395432.1:p.Cys14Gly
NP_001395433.1:p.Cys14Gly
NP_001395434.1:p.Cys14Gly
NP_001395440.1:p.Cys14Gly
NP_009225.1:p.Cys61Gly
NP_009225.1:p.Cys61Gly
NP_009228.2:p.Cys14Gly
NP_009229.2:p.Cys61Gly
NP_009229.2:p.Cys61Gly
NP_009230.2:p.Cys61Gly
NP_009231.2:p.Cys61Gly
NP_009235.2:p.Cys61Gly
LRG_292t1:c.181T>G
LRG_292:g.111497T>G
LRG_292p1:p.Cys61Gly
NC_000017.10:g.41258504A>C
NM_007294.3:c.181T>G
NM_007298.3:c.181T>G
NM_007299.3:c.181T>G
NM_007300.3:c.181T>G
NR_027676.2:n.383T>G
P38398:p.Cys61Gly
U14680.1:n.300T>G
p.C61G

Nucleotide change:

300T>G

Protein change:

C14G; CYS61GLY

Links:

BRCA1-HCI: BRCA1_00099; UniProtKB: P38398#VAR_007757; OMIM: 113705.0002; dbSNP: rs28897672

NCBI 1000 Genomes Browser:

rs28897672

Molecular consequence:

NM_001407581.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.383T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.181T>G, a MISSENSE variant, produced a function score of -1.74, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: â€˜functionalâ€™, score > -0.748; â€˜intermediateâ€™, -0.748 > score > -1.328; â€˜non-functionalâ€™, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
variation affecting protein function [Variation Ontology: 0003]

Observations:

886

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039517	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2000)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 10788334, 7795652
SCV000109295	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Sep 18, 2013)	germline	clinical testing
SCV000144574	Breast Cancer Information Core (BIC) (BRCA1)	no classification provided	not provided	germline, somatic, unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15024741, 15383404 Johannsson et al AJHG 58:441-450, 1997,
SCV000195877	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 3, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000244308	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325150	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000564349	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000591246	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing
SCV000677634	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Nov 12, 2015)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 21990134, 19770520, 20569256, 9525870, 18680205, 23867111, 25525159, 12938098 Citation Link,
SCV000733679	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV000839890	Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 25, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001140644	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001242516	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001251421	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 11, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001430694	Institute of Genomics, University of Tartu	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]
SCV001499631	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002070498	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Pathogenic (Feb 5, 2021)	germline	clinical testing
SCV002104282	University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20683152, 25741868
SCV002580059	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002589065	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing
SCV002762793	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 9, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV004100885	Medical Genetics, Medical University Pleven	no assertion criteria provided	Pathogenic	germline	research
SCV004212709	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 21, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004823691	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 6, 2024)	germline	clinical testing	PubMed (20) [See all records that cite these PMIDs] 7894493, 9525870, 10447273, 10788334, 11102977, 11278247, 11320250, 19594371, 20180014, 20345474, 20507347, 20569256, 21324516, 21503673, 21965345, 23695190, 24728189, 27433846, 29492181, 25741868
SCV005045920	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	110	11	not provided	not provided	not provided	clinical testing, research
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	67	not provided	not provided	67	not provided	clinical testing
not provided	germline	unknown	10	875	not provided	108544	not provided	clinical testing, research, curation
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	not provided	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	13	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Austrian	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	41	not provided	not provided	not provided	not provided	clinical testing
Caucasian	not provided	yes	3	not provided	not provided	not provided	not provided	clinical testing
Caucasian Non Hispanic	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	21	not provided	not provided	not provided	not provided	clinical testing
Czech	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
German, Uruguayan	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latvian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	52	not provided	not provided	not provided	not provided	clinical testing
Western European, Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Central/Eastern European	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Western European, Swedish, Englishranian, Norwegian, Belgian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
Western, Central/Eastern European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS.

Nat Genet. 1995 Apr;9(4):439-43.

PubMed [citation]

PMID:: 7795652

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

Foretova L, Machackova E, Navratilova M, Pavlu H, Hruba M, Lukesova M, Valik D.

Hum Mutat. 2004 Apr;23(4):397-8.

PubMed [citation]

PMID:: 15024741

See all PubMed Citations (31)

Details of each submission

From OMIM, SCV000039517.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Gorski et al. (2000) identified a cys61-to-gly (C61G) mutation in the BRCA1 gene to be a founder mutation in Polish families with breast-ovarian cancer (604370), accounting for 20% of identified mutations. They studied 66 families in which at least 3 related females were affected with breast or ovarian cancer and at least 1 of these 3 had been diagnosed with cancer before the age of 50. Mutations were identified in 35 (53%) of the 66 families.

Merajver et al. (1995) analyzed genomic DNA of tumor and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the SSCP technique. Somatic mutations in the BRCA1 gene were identified in 4 tumors, all of which also had loss of heterozygosity at a BRCA1 intragenic marker. One of these, found in an endometrioid ovarian carcinoma in a 53-year-old woman, was a C61G substitution in the zinc finger motif. The data supported a tumor-suppressor mechanism for BRCA1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sharing Clinical Reports Project (SCRP), SCV000109295.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	67	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:9875T>C (L3216P)	1
1	SingleHeterozygote	BRCA2:2510A>C (Y761S)	1

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144574.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	78	not provided	not provided	clinical testing	PubMed (2)
2	not provided	6	not provided	not provided	clinical testing	PubMed (2)
3	not provided	1	not provided	not provided	clinical testing	PubMed (2)
4	not provided	4	not provided	not provided	clinical testing	PubMed (2)
5	not provided	2	not provided	not provided	clinical testing	PubMed (2)
6	not provided	1	not provided	not provided	clinical testing	PubMed (2)
7	not provided	1	not provided	not provided	clinical testing	PubMed (2)
8	not provided	1	not provided	not provided	clinical testing	PubMed (2)
9	not provided	5	not provided	not provided	clinical testing	PubMed (2)
10	not provided	1	not provided	not provided	clinical testing	PubMed (2)
11	not provided	2	not provided	not provided	clinical testing	PubMed (2)
12	Ashkenazi	1	not provided	not provided	clinical testing	PubMed (2)
13	Austrian	10	not provided	not provided	clinical testing	PubMed (2)
14	Caucasian	2	not provided	not provided	clinical testing	PubMed (2)
15	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)
16	Caucasian	2	not provided	not provided	clinical testing	PubMed (2)
17	Caucasian	18	not provided	not provided	clinical testing	PubMed (2)
18	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)
19	Caucasian	12	not provided	not provided	clinical testing	PubMed (2)
20	Caucasian	4	not provided	not provided	clinical testing	PubMed (2)
21	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)
22	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)
23	Caucasian	2	not provided	not provided	clinical testing	PubMed (2)
24	Caucasian Non Hispanic	4	not provided	not provided	clinical testing	PubMed (2)
25	Central/Eastern European	21	not provided	not provided	clinical testing	PubMed (2)
26	Czech	1	not provided	not provided	clinical testing	PubMed (2)
27	German, Uruguayan	1	not provided	not provided	clinical testing	PubMed (2)
28	Latvian	1	not provided	not provided	clinical testing	PubMed (2)
29	Native American	1	not provided	not provided	clinical testing	PubMed (2)
30	Western European	52	not provided	not provided	clinical testing	PubMed (2)
31	Western European, Ashkenazi	1	not provided	not provided	clinical testing	PubMed (2)
32	Western European, Central/Eastern European	4	not provided	not provided	clinical testing	PubMed (2)
33	Western European, Swedish, Englishranian, Norwegian, Belgian	1	not provided	not provided	clinical testing	PubMed (2)
34	Western Europeanan, Central/Eastern European	5	not provided	not provided	clinical testing	PubMed (2)
35	Western, Central/Eastern European	3	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		78	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		6	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided
10	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
11	unknown	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
13	germline	yes	not provided	not provided	not provided		10	not provided	not provided	not provided
14	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
15	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
16	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
17	germline	yes	not provided	not provided	not provided		18	not provided	not provided	not provided
18	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
19	germline	yes	not provided	not provided	not provided		12	not provided	not provided	not provided
20	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
21	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
22	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
23	unknown	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
24	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
25	germline	yes	not provided	not provided	not provided		21	not provided	not provided	not provided
26	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
27	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
28	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
29	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
30	germline	yes	not provided	not provided	not provided		52	not provided	not provided	not provided
31	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
32	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
33	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
34	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided
35	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000195877.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244308.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325150.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	875	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591246.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	not provided

Description

The p.Cys61Gly variant has been identified in 64 out of 16070 proband chromosomes (frequency 0.004) in individuals with unilateral and contralateral breast cancers, ovarian cancers and familial breast and ovarian cancer phenotype, and also found in 4 out of 12088 control chromosomes (frequency <0.0001) included in these studies (Bergthorsson 2001, Brozek 2011, Bogdanova 2010, Capanu 2011, Elsakov 2010, Friedman 1994, Scott 2003, Uglanitsa 2010, Zhang 2011). It is listed in dbSNP database presented â€šÃ„Ãºwith probable pathogenic alleleâ€šÃ„Ã¹ (ID#: rs28897672) however no frequency information was available. The p.Cys61 residue is highly conserved in mammals and other species; however, computational analyses (PolyPhen2, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein and this information is not very predictive of pathogenicity. Functional studies have shown that this variant abolishes ubiquitin ligase activity of the BRCA1-BARD1 heterodimer and impairs BRCA1 DNA repair function, and therefore, it was considered as a pathogenic mutation (Au 2005, Brzovic 2003, Houvras 2000, Millot 2011, Morris 2004, Morris 2006, Ransburgh 2010, Ruffner 2001, Sweet 2010, Caliqo 2009, Humphrey 1997). In addition, this variant has been presented as a clinically important variant in the UMD (40 times) and the BIC (230 times) databases. In summary, based on the above information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		13	not provided	not provided	not provided

From Counsyl, SCV000677634.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733679.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV000839890.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.181T>G (p.Cys61Gly) variant has been detected in a multiple patients with breast and ovarian cancer [PMID 20507347, 21965345, 21503673, 20180014, 20345474, 23695190, 24728189, 21324516, 20569256 among others] and prostate cancer [PMID 27433846]. Functional in vitro assays showed that this variant was deleterious [PMID 23867111]. This variant has been reported in 8 non-Finnish Europeans from the ExAC database (http://exac.broadinstitute.org/variant/17-41258504-A-C). This variant occurs at high frequency in Eastern European countries and is considered a founder mutation in these countries [PMID 20507347, 20345474]. Cysteine at amino acid position 61 of the BRCA1 protein is highly conserved in mammals. While not validated for clinical use, computer-based algorithms predict this p.Cys61Gly change to be deleterious. Other changes affecting the same amino acid have been reported in patients with breast and/or ovarian cancer (p.Cys61Arg, p.Cys61Ser, p.Cys61Tyr). This variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001140644.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001242516.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001251421.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Criteria applied: PP1_VSTR,PVS1_RNA

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Genomics, University of Tartu, SCV001430694.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499631.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV002070498.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.181T>G, in exon 4 that results in an amino acid change, p.Cys61Gly. This sequence change has been described in the gnomAD database with a low population frequency of 0.0032% (dbSNP rs28897672). The p.Cys61Gly change affects a highly conserved amino acid residue located in a domain of the BRCA1 protein that is known to be functional. The p.Cys61Gly substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change has been reported in a significant number of individuals with breast and ovarian cancer (PMID: 7894493, 10788334, 21324516, 20180014, 20345474, 20507347, 20569256, 19594371). Experimental studies have also demonstrated that this variant disrupts several aspects of BRCA1 function (PMID: 11278247, 9525870, 22172724, 23161852, 23867111). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM), SCV002104282.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (2)
2		not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From MGZ Medical Genetics Center, SCV002580059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided

From BRCAlab, Lund University, SCV002589065.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	11	not provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV002762793.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

PS3, PS4_STR, PM5_STR, PP1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Medical Genetics, Medical University Pleven, SCV004100885.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004212709.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From All of Us Research Program, National Institutes of Health, SCV004823691.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	PubMed (20)

Description

The c.181T>G (p.Cys61Gly) variant of BRCA1 has been detected in multiple individuals with breast and ovarian cancer (PMID: 7894493, 10447273, 10788334, 11102977, 19594371, 20180014, 20345474, 20507347, 20569256, 20180014, 21324516, 21503673, 21965345, 23695190, 24728189, 29492181) and prostate cancer (PMID: 27433846). Functional in vitro assays showed that this variant increases proteolytic susceptibility of the COOH-terminal portion of the NH2-terminal domain and perturbs the oligomerization properties of BRCA1 (PMID: 9525870), fails to reverse radiation hypersensitivity (PMID: 11320250), and damages ubiquitin ligase activity (PMID: 11278247). This variant has been reported in 7 non-Finnish Europeans from gnomAD. This variant occurs at high frequency in Eastern European countries and is considered a founder mutation in these countries (PMID: 20507347, 20345474). Cysteine at amino acid position 61 of the BRCA1 protein is highly conserved in mammals. While not validated for clinical use, computer-based algorithms predict this p.Cys61Gly change to be deleterious. Other changes affecting the same amino acid have been reported in individuals with breast and/or ovarian cancer (p.Cys61Arg, p.Cys61Ser, p.Cys61Tyr). This variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		9	not provided	not provided	not provided

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045920.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PP3; PS3; PP1_Strong; Expert panel

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

Relating variation to medicine