NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 31, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000222558.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)]

NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)

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.116G>A (p.Cys39Tyr)

HGVS:

NC_000017.11:g.43115744C>T
NG_005905.2:g.102240G>A
NM_001407571.1:c.-73G>A
NM_001407581.1:c.116G>A
NM_001407582.1:c.116G>A
NM_001407583.1:c.116G>A
NM_001407585.1:c.116G>A
NM_001407587.1:c.116G>A
NM_001407590.1:c.116G>A
NM_001407591.1:c.116G>A
NM_001407593.1:c.116G>A
NM_001407594.1:c.116G>A
NM_001407596.1:c.116G>A
NM_001407597.1:c.116G>A
NM_001407598.1:c.116G>A
NM_001407602.1:c.116G>A
NM_001407603.1:c.116G>A
NM_001407605.1:c.116G>A
NM_001407610.1:c.116G>A
NM_001407611.1:c.116G>A
NM_001407612.1:c.116G>A
NM_001407613.1:c.116G>A
NM_001407614.1:c.116G>A
NM_001407615.1:c.116G>A
NM_001407616.1:c.116G>A
NM_001407617.1:c.116G>A
NM_001407618.1:c.116G>A
NM_001407619.1:c.116G>A
NM_001407620.1:c.116G>A
NM_001407621.1:c.116G>A
NM_001407622.1:c.116G>A
NM_001407623.1:c.116G>A
NM_001407624.1:c.116G>A
NM_001407625.1:c.116G>A
NM_001407626.1:c.116G>A
NM_001407627.1:c.116G>A
NM_001407628.1:c.116G>A
NM_001407629.1:c.116G>A
NM_001407630.1:c.116G>A
NM_001407631.1:c.116G>A
NM_001407632.1:c.116G>A
NM_001407633.1:c.116G>A
NM_001407634.1:c.116G>A
NM_001407635.1:c.116G>A
NM_001407636.1:c.116G>A
NM_001407637.1:c.116G>A
NM_001407638.1:c.116G>A
NM_001407639.1:c.116G>A
NM_001407640.1:c.116G>A
NM_001407641.1:c.116G>A
NM_001407642.1:c.116G>A
NM_001407644.1:c.116G>A
NM_001407645.1:c.116G>A
NM_001407646.1:c.116G>A
NM_001407647.1:c.116G>A
NM_001407648.1:c.116G>A
NM_001407649.1:c.116G>A
NM_001407652.1:c.116G>A
NM_001407653.1:c.116G>A
NM_001407654.1:c.116G>A
NM_001407655.1:c.116G>A
NM_001407656.1:c.116G>A
NM_001407657.1:c.116G>A
NM_001407658.1:c.116G>A
NM_001407659.1:c.116G>A
NM_001407660.1:c.116G>A
NM_001407661.1:c.116G>A
NM_001407662.1:c.116G>A
NM_001407663.1:c.116G>A
NM_001407664.1:c.116G>A
NM_001407665.1:c.116G>A
NM_001407666.1:c.116G>A
NM_001407667.1:c.116G>A
NM_001407668.1:c.116G>A
NM_001407669.1:c.116G>A
NM_001407670.1:c.116G>A
NM_001407671.1:c.116G>A
NM_001407672.1:c.116G>A
NM_001407673.1:c.116G>A
NM_001407674.1:c.116G>A
NM_001407675.1:c.116G>A
NM_001407676.1:c.116G>A
NM_001407677.1:c.116G>A
NM_001407678.1:c.116G>A
NM_001407679.1:c.116G>A
NM_001407680.1:c.116G>A
NM_001407681.1:c.116G>A
NM_001407682.1:c.116G>A
NM_001407683.1:c.116G>A
NM_001407684.1:c.116G>A
NM_001407685.1:c.116G>A
NM_001407686.1:c.116G>A
NM_001407687.1:c.116G>A
NM_001407688.1:c.116G>A
NM_001407689.1:c.116G>A
NM_001407690.1:c.116G>A
NM_001407691.1:c.116G>A
NM_001407694.1:c.-142G>A
NM_001407695.1:c.-146G>A
NM_001407696.1:c.-142G>A
NM_001407697.1:c.-26G>A
NM_001407724.1:c.-142G>A
NM_001407725.1:c.-26G>A
NM_001407727.1:c.-142G>A
NM_001407728.1:c.-26G>A
NM_001407729.1:c.-26G>A
NM_001407730.1:c.-26G>A
NM_001407731.1:c.-142G>A
NM_001407733.1:c.-142G>A
NM_001407734.1:c.-26G>A
NM_001407735.1:c.-26G>A
NM_001407737.1:c.-26G>A
NM_001407739.1:c.-26G>A
NM_001407740.1:c.-26G>A
NM_001407741.1:c.-26G>A
NM_001407743.1:c.-26G>A
NM_001407745.1:c.-26G>A
NM_001407746.1:c.-142G>A
NM_001407748.1:c.-26G>A
NM_001407749.1:c.-142G>A
NM_001407752.1:c.-26G>A
NM_001407838.1:c.-26G>A
NM_001407839.1:c.-26G>A
NM_001407841.1:c.-22G>A
NM_001407842.1:c.-142G>A
NM_001407843.1:c.-142G>A
NM_001407844.1:c.-26G>A
NM_001407846.1:c.-26G>A
NM_001407847.1:c.-26G>A
NM_001407848.1:c.-26G>A
NM_001407850.1:c.-26G>A
NM_001407851.1:c.-26G>A
NM_001407853.1:c.-73G>A
NM_001407854.1:c.116G>A
NM_001407858.1:c.116G>A
NM_001407859.1:c.116G>A
NM_001407860.1:c.116G>A
NM_001407861.1:c.116G>A
NM_001407862.1:c.116G>A
NM_001407863.1:c.116G>A
NM_001407874.1:c.116G>A
NM_001407875.1:c.116G>A
NM_001407879.1:c.-73G>A
NM_001407882.1:c.-73G>A
NM_001407884.1:c.-73G>A
NM_001407885.1:c.-73G>A
NM_001407886.1:c.-73G>A
NM_001407887.1:c.-73G>A
NM_001407889.1:c.-189G>A
NM_001407894.1:c.-73G>A
NM_001407895.1:c.-73G>A
NM_001407896.1:c.-73G>A
NM_001407897.1:c.-73G>A
NM_001407899.1:c.-73G>A
NM_001407900.1:c.-189G>A
NM_001407904.1:c.-73G>A
NM_001407906.1:c.-73G>A
NM_001407907.1:c.-73G>A
NM_001407908.1:c.-73G>A
NM_001407909.1:c.-73G>A
NM_001407910.1:c.-73G>A
NM_001407915.1:c.-73G>A
NM_001407916.1:c.-73G>A
NM_001407917.1:c.-73G>A
NM_001407918.1:c.-73G>A
NM_001407919.1:c.116G>A
NM_001407920.1:c.-26G>A
NM_001407921.1:c.-26G>A
NM_001407922.1:c.-26G>A
NM_001407923.1:c.-26G>A
NM_001407926.1:c.-26G>A
NM_001407927.1:c.-26G>A
NM_001407930.1:c.-142G>A
NM_001407933.1:c.-26G>A
NM_001407934.1:c.-26G>A
NM_001407935.1:c.-26G>A
NM_001407937.1:c.116G>A
NM_001407938.1:c.116G>A
NM_001407939.1:c.116G>A
NM_001407940.1:c.116G>A
NM_001407941.1:c.116G>A
NM_001407942.1:c.-142G>A
NM_001407943.1:c.-26G>A
NM_001407944.1:c.-26G>A
NM_001407946.1:c.-73G>A
NM_001407947.1:c.-73G>A
NM_001407948.1:c.-73G>A
NM_001407949.1:c.-73G>A
NM_001407950.1:c.-73G>A
NM_001407951.1:c.-73G>A
NM_001407952.1:c.-73G>A
NM_001407953.1:c.-73G>A
NM_001407954.1:c.-73G>A
NM_001407955.1:c.-73G>A
NM_001407956.1:c.-73G>A
NM_001407957.1:c.-73G>A
NM_001407958.1:c.-73G>A
NM_001407960.1:c.-188G>A
NM_001407962.1:c.-188G>A
NM_001407964.1:c.-26G>A
NM_001407965.1:c.-304G>A
NM_001407968.1:c.116G>A
NM_001407969.1:c.116G>A
NM_001407970.1:c.116G>A
NM_001407971.1:c.116G>A
NM_001407972.1:c.116G>A
NM_001407973.1:c.116G>A
NM_001407974.1:c.116G>A
NM_001407975.1:c.116G>A
NM_001407976.1:c.116G>A
NM_001407977.1:c.116G>A
NM_001407978.1:c.116G>A
NM_001407979.1:c.116G>A
NM_001407980.1:c.116G>A
NM_001407981.1:c.116G>A
NM_001407982.1:c.116G>A
NM_001407983.1:c.116G>A
NM_001407984.1:c.116G>A
NM_001407985.1:c.116G>A
NM_001407986.1:c.116G>A
NM_001407990.1:c.116G>A
NM_001407991.1:c.116G>A
NM_001407992.1:c.116G>A
NM_001407993.1:c.116G>A
NM_001408392.1:c.116G>A
NM_001408396.1:c.116G>A
NM_001408397.1:c.116G>A
NM_001408398.1:c.116G>A
NM_001408399.1:c.116G>A
NM_001408400.1:c.116G>A
NM_001408401.1:c.116G>A
NM_001408402.1:c.116G>A
NM_001408403.1:c.116G>A
NM_001408404.1:c.116G>A
NM_001408406.1:c.116G>A
NM_001408407.1:c.116G>A
NM_001408408.1:c.116G>A
NM_001408409.1:c.116G>A
NM_001408410.1:c.-26G>A
NM_001408411.1:c.116G>A
NM_001408412.1:c.116G>A
NM_001408413.1:c.116G>A
NM_001408414.1:c.116G>A
NM_001408415.1:c.116G>A
NM_001408416.1:c.116G>A
NM_001408418.1:c.116G>A
NM_001408419.1:c.116G>A
NM_001408420.1:c.116G>A
NM_001408421.1:c.116G>A
NM_001408422.1:c.116G>A
NM_001408423.1:c.116G>A
NM_001408424.1:c.116G>A
NM_001408425.1:c.116G>A
NM_001408426.1:c.116G>A
NM_001408427.1:c.116G>A
NM_001408428.1:c.116G>A
NM_001408429.1:c.116G>A
NM_001408430.1:c.116G>A
NM_001408431.1:c.116G>A
NM_001408432.1:c.116G>A
NM_001408433.1:c.116G>A
NM_001408434.1:c.116G>A
NM_001408435.1:c.116G>A
NM_001408436.1:c.116G>A
NM_001408437.1:c.116G>A
NM_001408438.1:c.116G>A
NM_001408439.1:c.116G>A
NM_001408440.1:c.116G>A
NM_001408441.1:c.116G>A
NM_001408442.1:c.116G>A
NM_001408443.1:c.116G>A
NM_001408444.1:c.116G>A
NM_001408445.1:c.116G>A
NM_001408446.1:c.116G>A
NM_001408447.1:c.116G>A
NM_001408448.1:c.116G>A
NM_001408450.1:c.116G>A
NM_001408452.1:c.-26G>A
NM_001408453.1:c.-26G>A
NM_001408455.1:c.-142G>A
NM_001408456.1:c.-142G>A
NM_001408458.1:c.-26G>A
NM_001408462.1:c.-26G>A
NM_001408463.1:c.-26G>A
NM_001408465.1:c.-146G>A
NM_001408466.1:c.-26G>A
NM_001408468.1:c.-142G>A
NM_001408469.1:c.-26G>A
NM_001408470.1:c.-26G>A
NM_001408472.1:c.116G>A
NM_001408473.1:c.116G>A
NM_001408474.1:c.116G>A
NM_001408475.1:c.116G>A
NM_001408476.1:c.116G>A
NM_001408478.1:c.-73G>A
NM_001408479.1:c.-73G>A
NM_001408480.1:c.-73G>A
NM_001408481.1:c.-73G>A
NM_001408482.1:c.-73G>A
NM_001408483.1:c.-73G>A
NM_001408484.1:c.-73G>A
NM_001408485.1:c.-73G>A
NM_001408489.1:c.-73G>A
NM_001408490.1:c.-73G>A
NM_001408491.1:c.-73G>A
NM_001408492.1:c.-189G>A
NM_001408493.1:c.-73G>A
NM_001408494.1:c.116G>A
NM_001408495.1:c.116G>A
NM_001408497.1:c.-26G>A
NM_001408499.1:c.-26G>A
NM_001408500.1:c.-26G>A
NM_001408501.1:c.-142G>A
NM_001408502.1:c.-73G>A
NM_001408503.1:c.-26G>A
NM_001408504.1:c.-26G>A
NM_001408505.1:c.-26G>A
NM_001408506.1:c.-73G>A
NM_001408507.1:c.-73G>A
NM_001408508.1:c.-73G>A
NM_001408509.1:c.-73G>A
NM_001408510.1:c.-188G>A
NM_001408512.1:c.-188G>A
NM_001408513.1:c.-73G>A
NM_001408514.1:c.-73G>A
NM_007294.4:c.116G>AMANE SELECT
NM_007297.4:c.-8+8273G>A
NM_007298.4:c.116G>A
NM_007299.4:c.116G>A
NM_007300.4:c.116G>A
NM_007304.2:c.116G>A
NP_001394510.1:p.Cys39Tyr
NP_001394511.1:p.Cys39Tyr
NP_001394512.1:p.Cys39Tyr
NP_001394514.1:p.Cys39Tyr
NP_001394516.1:p.Cys39Tyr
NP_001394519.1:p.Cys39Tyr
NP_001394520.1:p.Cys39Tyr
NP_001394522.1:p.Cys39Tyr
NP_001394523.1:p.Cys39Tyr
NP_001394525.1:p.Cys39Tyr
NP_001394526.1:p.Cys39Tyr
NP_001394527.1:p.Cys39Tyr
NP_001394531.1:p.Cys39Tyr
NP_001394532.1:p.Cys39Tyr
NP_001394534.1:p.Cys39Tyr
NP_001394539.1:p.Cys39Tyr
NP_001394540.1:p.Cys39Tyr
NP_001394541.1:p.Cys39Tyr
NP_001394542.1:p.Cys39Tyr
NP_001394543.1:p.Cys39Tyr
NP_001394544.1:p.Cys39Tyr
NP_001394545.1:p.Cys39Tyr
NP_001394546.1:p.Cys39Tyr
NP_001394547.1:p.Cys39Tyr
NP_001394548.1:p.Cys39Tyr
NP_001394549.1:p.Cys39Tyr
NP_001394550.1:p.Cys39Tyr
NP_001394551.1:p.Cys39Tyr
NP_001394552.1:p.Cys39Tyr
NP_001394553.1:p.Cys39Tyr
NP_001394554.1:p.Cys39Tyr
NP_001394555.1:p.Cys39Tyr
NP_001394556.1:p.Cys39Tyr
NP_001394557.1:p.Cys39Tyr
NP_001394558.1:p.Cys39Tyr
NP_001394559.1:p.Cys39Tyr
NP_001394560.1:p.Cys39Tyr
NP_001394561.1:p.Cys39Tyr
NP_001394562.1:p.Cys39Tyr
NP_001394563.1:p.Cys39Tyr
NP_001394564.1:p.Cys39Tyr
NP_001394565.1:p.Cys39Tyr
NP_001394566.1:p.Cys39Tyr
NP_001394567.1:p.Cys39Tyr
NP_001394568.1:p.Cys39Tyr
NP_001394569.1:p.Cys39Tyr
NP_001394570.1:p.Cys39Tyr
NP_001394571.1:p.Cys39Tyr
NP_001394573.1:p.Cys39Tyr
NP_001394574.1:p.Cys39Tyr
NP_001394575.1:p.Cys39Tyr
NP_001394576.1:p.Cys39Tyr
NP_001394577.1:p.Cys39Tyr
NP_001394578.1:p.Cys39Tyr
NP_001394581.1:p.Cys39Tyr
NP_001394582.1:p.Cys39Tyr
NP_001394583.1:p.Cys39Tyr
NP_001394584.1:p.Cys39Tyr
NP_001394585.1:p.Cys39Tyr
NP_001394586.1:p.Cys39Tyr
NP_001394587.1:p.Cys39Tyr
NP_001394588.1:p.Cys39Tyr
NP_001394589.1:p.Cys39Tyr
NP_001394590.1:p.Cys39Tyr
NP_001394591.1:p.Cys39Tyr
NP_001394592.1:p.Cys39Tyr
NP_001394593.1:p.Cys39Tyr
NP_001394594.1:p.Cys39Tyr
NP_001394595.1:p.Cys39Tyr
NP_001394596.1:p.Cys39Tyr
NP_001394597.1:p.Cys39Tyr
NP_001394598.1:p.Cys39Tyr
NP_001394599.1:p.Cys39Tyr
NP_001394600.1:p.Cys39Tyr
NP_001394601.1:p.Cys39Tyr
NP_001394602.1:p.Cys39Tyr
NP_001394603.1:p.Cys39Tyr
NP_001394604.1:p.Cys39Tyr
NP_001394605.1:p.Cys39Tyr
NP_001394606.1:p.Cys39Tyr
NP_001394607.1:p.Cys39Tyr
NP_001394608.1:p.Cys39Tyr
NP_001394609.1:p.Cys39Tyr
NP_001394610.1:p.Cys39Tyr
NP_001394611.1:p.Cys39Tyr
NP_001394612.1:p.Cys39Tyr
NP_001394613.1:p.Cys39Tyr
NP_001394614.1:p.Cys39Tyr
NP_001394615.1:p.Cys39Tyr
NP_001394616.1:p.Cys39Tyr
NP_001394617.1:p.Cys39Tyr
NP_001394618.1:p.Cys39Tyr
NP_001394619.1:p.Cys39Tyr
NP_001394620.1:p.Cys39Tyr
NP_001394783.1:p.Cys39Tyr
NP_001394787.1:p.Cys39Tyr
NP_001394788.1:p.Cys39Tyr
NP_001394789.1:p.Cys39Tyr
NP_001394790.1:p.Cys39Tyr
NP_001394791.1:p.Cys39Tyr
NP_001394792.1:p.Cys39Tyr
NP_001394803.1:p.Cys39Tyr
NP_001394804.1:p.Cys39Tyr
NP_001394848.1:p.Cys39Tyr
NP_001394866.1:p.Cys39Tyr
NP_001394867.1:p.Cys39Tyr
NP_001394868.1:p.Cys39Tyr
NP_001394869.1:p.Cys39Tyr
NP_001394870.1:p.Cys39Tyr
NP_001394897.1:p.Cys39Tyr
NP_001394898.1:p.Cys39Tyr
NP_001394899.1:p.Cys39Tyr
NP_001394900.1:p.Cys39Tyr
NP_001394901.1:p.Cys39Tyr
NP_001394902.1:p.Cys39Tyr
NP_001394903.1:p.Cys39Tyr
NP_001394904.1:p.Cys39Tyr
NP_001394905.1:p.Cys39Tyr
NP_001394906.1:p.Cys39Tyr
NP_001394907.1:p.Cys39Tyr
NP_001394908.1:p.Cys39Tyr
NP_001394909.1:p.Cys39Tyr
NP_001394910.1:p.Cys39Tyr
NP_001394911.1:p.Cys39Tyr
NP_001394912.1:p.Cys39Tyr
NP_001394913.1:p.Cys39Tyr
NP_001394914.1:p.Cys39Tyr
NP_001394915.1:p.Cys39Tyr
NP_001394919.1:p.Cys39Tyr
NP_001394920.1:p.Cys39Tyr
NP_001394921.1:p.Cys39Tyr
NP_001394922.1:p.Cys39Tyr
NP_001395321.1:p.Cys39Tyr
NP_001395325.1:p.Cys39Tyr
NP_001395326.1:p.Cys39Tyr
NP_001395327.1:p.Cys39Tyr
NP_001395328.1:p.Cys39Tyr
NP_001395329.1:p.Cys39Tyr
NP_001395330.1:p.Cys39Tyr
NP_001395331.1:p.Cys39Tyr
NP_001395332.1:p.Cys39Tyr
NP_001395333.1:p.Cys39Tyr
NP_001395335.1:p.Cys39Tyr
NP_001395336.1:p.Cys39Tyr
NP_001395337.1:p.Cys39Tyr
NP_001395338.1:p.Cys39Tyr
NP_001395340.1:p.Cys39Tyr
NP_001395341.1:p.Cys39Tyr
NP_001395342.1:p.Cys39Tyr
NP_001395343.1:p.Cys39Tyr
NP_001395344.1:p.Cys39Tyr
NP_001395345.1:p.Cys39Tyr
NP_001395347.1:p.Cys39Tyr
NP_001395348.1:p.Cys39Tyr
NP_001395349.1:p.Cys39Tyr
NP_001395350.1:p.Cys39Tyr
NP_001395351.1:p.Cys39Tyr
NP_001395352.1:p.Cys39Tyr
NP_001395353.1:p.Cys39Tyr
NP_001395354.1:p.Cys39Tyr
NP_001395355.1:p.Cys39Tyr
NP_001395356.1:p.Cys39Tyr
NP_001395357.1:p.Cys39Tyr
NP_001395358.1:p.Cys39Tyr
NP_001395359.1:p.Cys39Tyr
NP_001395360.1:p.Cys39Tyr
NP_001395361.1:p.Cys39Tyr
NP_001395362.1:p.Cys39Tyr
NP_001395363.1:p.Cys39Tyr
NP_001395364.1:p.Cys39Tyr
NP_001395365.1:p.Cys39Tyr
NP_001395366.1:p.Cys39Tyr
NP_001395367.1:p.Cys39Tyr
NP_001395368.1:p.Cys39Tyr
NP_001395369.1:p.Cys39Tyr
NP_001395370.1:p.Cys39Tyr
NP_001395371.1:p.Cys39Tyr
NP_001395372.1:p.Cys39Tyr
NP_001395373.1:p.Cys39Tyr
NP_001395374.1:p.Cys39Tyr
NP_001395375.1:p.Cys39Tyr
NP_001395376.1:p.Cys39Tyr
NP_001395377.1:p.Cys39Tyr
NP_001395379.1:p.Cys39Tyr
NP_001395401.1:p.Cys39Tyr
NP_001395402.1:p.Cys39Tyr
NP_001395403.1:p.Cys39Tyr
NP_001395404.1:p.Cys39Tyr
NP_001395405.1:p.Cys39Tyr
NP_001395423.1:p.Cys39Tyr
NP_001395424.1:p.Cys39Tyr
NP_009225.1:p.Cys39Tyr
NP_009225.1:p.Cys39Tyr
NP_009229.2:p.Cys39Tyr
NP_009229.2:p.Cys39Tyr
NP_009230.2:p.Cys39Tyr
NP_009231.2:p.Cys39Tyr
NP_009235.2:p.Cys39Tyr
LRG_292t1:c.116G>A
LRG_292:g.102240G>A
LRG_292p1:p.Cys39Tyr
NC_000017.10:g.41267761C>T
NM_007294.3:c.116G>A
NM_007298.3:c.116G>A
NR_027676.2:n.318G>A
U14680.1:n.235G>A

Protein change:

C39Y

Links:

dbSNP: rs80357498

NCBI 1000 Genomes Browser:

rs80357498

Molecular consequence:

NM_007297.4:c.-8+8273G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.318G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000277193	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 26, 2021)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 11320250, 23397983, 25823446, 26852130, 27272900, 29446198, 30209399, 32894085 Citation Link,
SCV000688318	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 31, 2023)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 9808526, 11320250, 20103620, 21725363, 22752604, 22923021, 23161852, 25823446, 26852130, 27272900, 30209399, 32894085, 25741868
SCV002538002	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Pathogenic (Apr 5, 2021)	germline	curation	PubMed (12) [See all records that cite these PMIDs] 9808526, 22923021, 21232165, 22752604, 21725363, 11320250, 20103620, 30209399, 12827452, 18489799, 21203900, 28993434 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000277193

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 26, 2021)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000688318

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 31, 2023)

germline

clinical testing

PubMed (13)
[See all records that cite these PMIDs]

SCV002538002

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Pathogenic
(Apr 5, 2021)

germline

curation

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

Krajc M, Zadnik V, Novaković S, Stegel V, Teugels E, Bešič N, Hočevar M, Vakselj A, De Grève J, Zgajnar J.

Clin Genet. 2014 Jan;85(1):59-63. doi: 10.1111/cge.12119. Epub 2013 Mar 11.

PubMed [citation]

PMID:: 23397983

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

See all PubMed Citations (20)

Details of each submission

From Ambry Genetics, SCV000277193.5

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

Description

The p.C39Y pathogenic mutation (also known as c.116G>A), located in coding exon 2 of the BRCA1 gene, results from a G to A substitution at nucleotide position 116. The cysteine at codon 39 is replaced by tyrosine, an amino acid with highly dissimilar properties. The cysteine at codon 39 is a putative zinc-binding residue occurring in the functionally important RING domain of the BRCA1 protein. Cells with p.C39Y are deficient in the control of centrosome number (Kais Z et al. Oncogene. 2012 Feb 9;31(6):799-804). Other studies have demonstrated abolishment and decreased activity of ubiquitin protein ligase function the BRCA1 RING finger in vitro (Ruffner H et al. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9; Starita LM et al. Genetics. 2015 Jun;200(2):413-22). In addition, p.C39Y failed to reverse gamma radiation (IR) hypersensitivity in vivo (Ruffner H et al. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9). Furthermore, cells with p.C39Y were found to be defective in the repair of double-strand breaks by homology-directed recombination (HDR) and double-strand break repair by the single-strand annealing (SSA) pathway (Towler WI et al. Hum Mutat. 2013 Mar;34(3):439-45). Other studies found cells with p.C39Y to be deficient in BARD1 binding (Ransburgh DJ et al. Cancer Res. 2010 Feb 1;70(3):988-95; Starita LM et al. Genetics. 2015 Jun;200(2):413-22). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition to these functional studies, this mutation has been identified in multiple breast and/or ovarian cancer families to date (Santarosa M et al. Int J Cancer. 1998 Nov 23;78(5):581-6; Stegel V et al. BMC Med Genet. 2011 Jan 14;12:9; Juwle A et al. Med Oncol. 2012 Dec;29(5):3272-81; Krajc M et al. Clin Genet, 2014 Jan;85:59-63; Cini G et al. BMC Med Genet, 2016 Feb;17:11; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Bakkach J et al. BMC Cancer, 2020 Sep;20:859). Furthermore, a different alteration at the same codon, p.C39R, has been classified as definitely pathogenic (p>0.99) by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, mutation co-occurrence, and functional assay results (Easton D et al. Am J Hum Genet. 2007;81:873-883; Vallee M et al. Hum Mutat. 2012 Jan;33(1):22-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000688318.4

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

Description

This missense variant replaces cysteine with tyrosine at codon 39 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported that this variant impacts BRCA1 function in homology-directed DNA repair, ubiquitin E3 ligase, haploid cell proliferation, centrosome duplication and yeast colony size assays (PMID: 11320250, 20103620, 21725363, 23161852, 25823446, 27272900, 30209399). This variant has been detected in at least eight individuals affected with breast and/or ovarian cancer and additional suspected hereditary breast and ovarian cancer families (PMID: 9808526, 22752604, 22923021, 26852130, 32894085). Other missense substitutions at this codon to serine, arginine, glycine, phenylalanine and tryptophan also have been reported as disease-causing in ClinVar (variation ID 37393, 54151, 54152, 54153, 267497, 867499). This variant has been identified in 1/31396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, 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 Sema4, Sema4, SCV002538002.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (12)

#	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

Last Updated: Aug 4, 2024

ClinVar

Relating variation to medicine