NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 11, 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:: RCV000166901.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)]

NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)

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.131G>T (p.Cys44Phe)

HGVS:

NC_000017.11:g.43115729C>A
NG_005905.2:g.102255G>T
NM_001407571.1:c.-58G>T
NM_001407581.1:c.131G>T
NM_001407582.1:c.131G>T
NM_001407583.1:c.131G>T
NM_001407585.1:c.131G>T
NM_001407587.1:c.131G>T
NM_001407590.1:c.131G>T
NM_001407591.1:c.131G>T
NM_001407593.1:c.131G>T
NM_001407594.1:c.131G>T
NM_001407596.1:c.131G>T
NM_001407597.1:c.131G>T
NM_001407598.1:c.131G>T
NM_001407602.1:c.131G>T
NM_001407603.1:c.131G>T
NM_001407605.1:c.131G>T
NM_001407610.1:c.131G>T
NM_001407611.1:c.131G>T
NM_001407612.1:c.131G>T
NM_001407613.1:c.131G>T
NM_001407614.1:c.131G>T
NM_001407615.1:c.131G>T
NM_001407616.1:c.131G>T
NM_001407617.1:c.131G>T
NM_001407618.1:c.131G>T
NM_001407619.1:c.131G>T
NM_001407620.1:c.131G>T
NM_001407621.1:c.131G>T
NM_001407622.1:c.131G>T
NM_001407623.1:c.131G>T
NM_001407624.1:c.131G>T
NM_001407625.1:c.131G>T
NM_001407626.1:c.131G>T
NM_001407627.1:c.131G>T
NM_001407628.1:c.131G>T
NM_001407629.1:c.131G>T
NM_001407630.1:c.131G>T
NM_001407631.1:c.131G>T
NM_001407632.1:c.131G>T
NM_001407633.1:c.131G>T
NM_001407634.1:c.131G>T
NM_001407635.1:c.131G>T
NM_001407636.1:c.131G>T
NM_001407637.1:c.131G>T
NM_001407638.1:c.131G>T
NM_001407639.1:c.131G>T
NM_001407640.1:c.131G>T
NM_001407641.1:c.131G>T
NM_001407642.1:c.131G>T
NM_001407644.1:c.131G>T
NM_001407645.1:c.131G>T
NM_001407646.1:c.131G>T
NM_001407647.1:c.131G>T
NM_001407648.1:c.131G>T
NM_001407649.1:c.131G>T
NM_001407652.1:c.131G>T
NM_001407653.1:c.131G>T
NM_001407654.1:c.131G>T
NM_001407655.1:c.131G>T
NM_001407656.1:c.131G>T
NM_001407657.1:c.131G>T
NM_001407658.1:c.131G>T
NM_001407659.1:c.131G>T
NM_001407660.1:c.131G>T
NM_001407661.1:c.131G>T
NM_001407662.1:c.131G>T
NM_001407663.1:c.131G>T
NM_001407664.1:c.131G>T
NM_001407665.1:c.131G>T
NM_001407666.1:c.131G>T
NM_001407667.1:c.131G>T
NM_001407668.1:c.131G>T
NM_001407669.1:c.131G>T
NM_001407670.1:c.131G>T
NM_001407671.1:c.131G>T
NM_001407672.1:c.131G>T
NM_001407673.1:c.131G>T
NM_001407674.1:c.131G>T
NM_001407675.1:c.131G>T
NM_001407676.1:c.131G>T
NM_001407677.1:c.131G>T
NM_001407678.1:c.131G>T
NM_001407679.1:c.131G>T
NM_001407680.1:c.131G>T
NM_001407681.1:c.131G>T
NM_001407682.1:c.131G>T
NM_001407683.1:c.131G>T
NM_001407684.1:c.131G>T
NM_001407685.1:c.131G>T
NM_001407686.1:c.131G>T
NM_001407687.1:c.131G>T
NM_001407688.1:c.131G>T
NM_001407689.1:c.131G>T
NM_001407690.1:c.131G>T
NM_001407691.1:c.131G>T
NM_001407694.1:c.-127G>T
NM_001407695.1:c.-131G>T
NM_001407696.1:c.-127G>T
NM_001407697.1:c.-11G>T
NM_001407724.1:c.-127G>T
NM_001407725.1:c.-11G>T
NM_001407727.1:c.-127G>T
NM_001407728.1:c.-11G>T
NM_001407729.1:c.-11G>T
NM_001407730.1:c.-11G>T
NM_001407731.1:c.-127G>T
NM_001407733.1:c.-127G>T
NM_001407734.1:c.-11G>T
NM_001407735.1:c.-11G>T
NM_001407737.1:c.-11G>T
NM_001407739.1:c.-11G>T
NM_001407740.1:c.-11G>T
NM_001407741.1:c.-11G>T
NM_001407743.1:c.-11G>T
NM_001407745.1:c.-11G>T
NM_001407746.1:c.-127G>T
NM_001407748.1:c.-11G>T
NM_001407749.1:c.-127G>T
NM_001407752.1:c.-11G>T
NM_001407838.1:c.-11G>T
NM_001407839.1:c.-11G>T
NM_001407842.1:c.-127G>T
NM_001407843.1:c.-127G>T
NM_001407844.1:c.-11G>T
NM_001407846.1:c.-11G>T
NM_001407847.1:c.-11G>T
NM_001407848.1:c.-11G>T
NM_001407850.1:c.-11G>T
NM_001407851.1:c.-11G>T
NM_001407853.1:c.-58G>T
NM_001407854.1:c.131G>T
NM_001407858.1:c.131G>T
NM_001407859.1:c.131G>T
NM_001407860.1:c.131G>T
NM_001407861.1:c.131G>T
NM_001407862.1:c.131G>T
NM_001407863.1:c.131G>T
NM_001407874.1:c.131G>T
NM_001407875.1:c.131G>T
NM_001407879.1:c.-58G>T
NM_001407882.1:c.-58G>T
NM_001407884.1:c.-58G>T
NM_001407885.1:c.-58G>T
NM_001407886.1:c.-58G>T
NM_001407887.1:c.-58G>T
NM_001407889.1:c.-174G>T
NM_001407894.1:c.-58G>T
NM_001407895.1:c.-58G>T
NM_001407896.1:c.-58G>T
NM_001407897.1:c.-58G>T
NM_001407899.1:c.-58G>T
NM_001407900.1:c.-174G>T
NM_001407904.1:c.-58G>T
NM_001407906.1:c.-58G>T
NM_001407907.1:c.-58G>T
NM_001407908.1:c.-58G>T
NM_001407909.1:c.-58G>T
NM_001407910.1:c.-58G>T
NM_001407915.1:c.-58G>T
NM_001407916.1:c.-58G>T
NM_001407917.1:c.-58G>T
NM_001407918.1:c.-58G>T
NM_001407919.1:c.131G>T
NM_001407920.1:c.-11G>T
NM_001407921.1:c.-11G>T
NM_001407922.1:c.-11G>T
NM_001407923.1:c.-11G>T
NM_001407926.1:c.-11G>T
NM_001407927.1:c.-11G>T
NM_001407930.1:c.-127G>T
NM_001407933.1:c.-11G>T
NM_001407934.1:c.-11G>T
NM_001407935.1:c.-11G>T
NM_001407937.1:c.131G>T
NM_001407938.1:c.131G>T
NM_001407939.1:c.131G>T
NM_001407940.1:c.131G>T
NM_001407941.1:c.131G>T
NM_001407942.1:c.-127G>T
NM_001407943.1:c.-11G>T
NM_001407944.1:c.-11G>T
NM_001407946.1:c.-58G>T
NM_001407947.1:c.-58G>T
NM_001407948.1:c.-58G>T
NM_001407949.1:c.-58G>T
NM_001407950.1:c.-58G>T
NM_001407951.1:c.-58G>T
NM_001407952.1:c.-58G>T
NM_001407953.1:c.-58G>T
NM_001407954.1:c.-58G>T
NM_001407955.1:c.-58G>T
NM_001407956.1:c.-58G>T
NM_001407957.1:c.-58G>T
NM_001407958.1:c.-58G>T
NM_001407960.1:c.-173G>T
NM_001407962.1:c.-173G>T
NM_001407964.1:c.-11G>T
NM_001407965.1:c.-289G>T
NM_001407968.1:c.131G>T
NM_001407969.1:c.131G>T
NM_001407970.1:c.131G>T
NM_001407971.1:c.131G>T
NM_001407972.1:c.131G>T
NM_001407973.1:c.131G>T
NM_001407974.1:c.131G>T
NM_001407975.1:c.131G>T
NM_001407976.1:c.131G>T
NM_001407977.1:c.131G>T
NM_001407978.1:c.131G>T
NM_001407979.1:c.131G>T
NM_001407980.1:c.131G>T
NM_001407981.1:c.131G>T
NM_001407982.1:c.131G>T
NM_001407983.1:c.131G>T
NM_001407984.1:c.131G>T
NM_001407985.1:c.131G>T
NM_001407986.1:c.131G>T
NM_001407990.1:c.131G>T
NM_001407991.1:c.131G>T
NM_001407992.1:c.131G>T
NM_001407993.1:c.131G>T
NM_001408392.1:c.131G>T
NM_001408396.1:c.131G>T
NM_001408397.1:c.131G>T
NM_001408398.1:c.131G>T
NM_001408399.1:c.131G>T
NM_001408400.1:c.131G>T
NM_001408401.1:c.131G>T
NM_001408402.1:c.131G>T
NM_001408403.1:c.131G>T
NM_001408404.1:c.131G>T
NM_001408406.1:c.131G>T
NM_001408407.1:c.131G>T
NM_001408408.1:c.131G>T
NM_001408409.1:c.131G>T
NM_001408410.1:c.-11G>T
NM_001408411.1:c.131G>T
NM_001408412.1:c.131G>T
NM_001408413.1:c.131G>T
NM_001408414.1:c.131G>T
NM_001408415.1:c.131G>T
NM_001408416.1:c.131G>T
NM_001408418.1:c.131G>T
NM_001408419.1:c.131G>T
NM_001408420.1:c.131G>T
NM_001408421.1:c.131G>T
NM_001408422.1:c.131G>T
NM_001408423.1:c.131G>T
NM_001408424.1:c.131G>T
NM_001408425.1:c.131G>T
NM_001408426.1:c.131G>T
NM_001408427.1:c.131G>T
NM_001408428.1:c.131G>T
NM_001408429.1:c.131G>T
NM_001408430.1:c.131G>T
NM_001408431.1:c.131G>T
NM_001408432.1:c.131G>T
NM_001408433.1:c.131G>T
NM_001408434.1:c.131G>T
NM_001408435.1:c.131G>T
NM_001408436.1:c.131G>T
NM_001408437.1:c.131G>T
NM_001408438.1:c.131G>T
NM_001408439.1:c.131G>T
NM_001408440.1:c.131G>T
NM_001408441.1:c.131G>T
NM_001408442.1:c.131G>T
NM_001408443.1:c.131G>T
NM_001408444.1:c.131G>T
NM_001408445.1:c.131G>T
NM_001408446.1:c.131G>T
NM_001408447.1:c.131G>T
NM_001408448.1:c.131G>T
NM_001408450.1:c.131G>T
NM_001408452.1:c.-11G>T
NM_001408453.1:c.-11G>T
NM_001408455.1:c.-127G>T
NM_001408456.1:c.-127G>T
NM_001408458.1:c.-11G>T
NM_001408462.1:c.-11G>T
NM_001408463.1:c.-11G>T
NM_001408465.1:c.-131G>T
NM_001408466.1:c.-11G>T
NM_001408468.1:c.-127G>T
NM_001408469.1:c.-11G>T
NM_001408470.1:c.-11G>T
NM_001408472.1:c.131G>T
NM_001408473.1:c.131G>T
NM_001408474.1:c.131G>T
NM_001408475.1:c.131G>T
NM_001408476.1:c.131G>T
NM_001408478.1:c.-58G>T
NM_001408479.1:c.-58G>T
NM_001408480.1:c.-58G>T
NM_001408481.1:c.-58G>T
NM_001408482.1:c.-58G>T
NM_001408483.1:c.-58G>T
NM_001408484.1:c.-58G>T
NM_001408485.1:c.-58G>T
NM_001408489.1:c.-58G>T
NM_001408490.1:c.-58G>T
NM_001408491.1:c.-58G>T
NM_001408492.1:c.-174G>T
NM_001408493.1:c.-58G>T
NM_001408494.1:c.131G>T
NM_001408495.1:c.131G>T
NM_001408497.1:c.-11G>T
NM_001408499.1:c.-11G>T
NM_001408500.1:c.-11G>T
NM_001408501.1:c.-127G>T
NM_001408502.1:c.-58G>T
NM_001408503.1:c.-11G>T
NM_001408504.1:c.-11G>T
NM_001408505.1:c.-11G>T
NM_001408506.1:c.-58G>T
NM_001408507.1:c.-58G>T
NM_001408508.1:c.-58G>T
NM_001408509.1:c.-58G>T
NM_001408510.1:c.-173G>T
NM_001408512.1:c.-173G>T
NM_001408513.1:c.-58G>T
NM_001408514.1:c.-58G>T
NM_007294.4:c.131G>TMANE SELECT
NM_007297.4:c.-8+8288G>T
NM_007298.4:c.131G>T
NM_007299.4:c.131G>T
NM_007300.4:c.131G>T
NM_007304.2:c.131G>T
NP_001394510.1:p.Cys44Phe
NP_001394511.1:p.Cys44Phe
NP_001394512.1:p.Cys44Phe
NP_001394514.1:p.Cys44Phe
NP_001394516.1:p.Cys44Phe
NP_001394519.1:p.Cys44Phe
NP_001394520.1:p.Cys44Phe
NP_001394522.1:p.Cys44Phe
NP_001394523.1:p.Cys44Phe
NP_001394525.1:p.Cys44Phe
NP_001394526.1:p.Cys44Phe
NP_001394527.1:p.Cys44Phe
NP_001394531.1:p.Cys44Phe
NP_001394532.1:p.Cys44Phe
NP_001394534.1:p.Cys44Phe
NP_001394539.1:p.Cys44Phe
NP_001394540.1:p.Cys44Phe
NP_001394541.1:p.Cys44Phe
NP_001394542.1:p.Cys44Phe
NP_001394543.1:p.Cys44Phe
NP_001394544.1:p.Cys44Phe
NP_001394545.1:p.Cys44Phe
NP_001394546.1:p.Cys44Phe
NP_001394547.1:p.Cys44Phe
NP_001394548.1:p.Cys44Phe
NP_001394549.1:p.Cys44Phe
NP_001394550.1:p.Cys44Phe
NP_001394551.1:p.Cys44Phe
NP_001394552.1:p.Cys44Phe
NP_001394553.1:p.Cys44Phe
NP_001394554.1:p.Cys44Phe
NP_001394555.1:p.Cys44Phe
NP_001394556.1:p.Cys44Phe
NP_001394557.1:p.Cys44Phe
NP_001394558.1:p.Cys44Phe
NP_001394559.1:p.Cys44Phe
NP_001394560.1:p.Cys44Phe
NP_001394561.1:p.Cys44Phe
NP_001394562.1:p.Cys44Phe
NP_001394563.1:p.Cys44Phe
NP_001394564.1:p.Cys44Phe
NP_001394565.1:p.Cys44Phe
NP_001394566.1:p.Cys44Phe
NP_001394567.1:p.Cys44Phe
NP_001394568.1:p.Cys44Phe
NP_001394569.1:p.Cys44Phe
NP_001394570.1:p.Cys44Phe
NP_001394571.1:p.Cys44Phe
NP_001394573.1:p.Cys44Phe
NP_001394574.1:p.Cys44Phe
NP_001394575.1:p.Cys44Phe
NP_001394576.1:p.Cys44Phe
NP_001394577.1:p.Cys44Phe
NP_001394578.1:p.Cys44Phe
NP_001394581.1:p.Cys44Phe
NP_001394582.1:p.Cys44Phe
NP_001394583.1:p.Cys44Phe
NP_001394584.1:p.Cys44Phe
NP_001394585.1:p.Cys44Phe
NP_001394586.1:p.Cys44Phe
NP_001394587.1:p.Cys44Phe
NP_001394588.1:p.Cys44Phe
NP_001394589.1:p.Cys44Phe
NP_001394590.1:p.Cys44Phe
NP_001394591.1:p.Cys44Phe
NP_001394592.1:p.Cys44Phe
NP_001394593.1:p.Cys44Phe
NP_001394594.1:p.Cys44Phe
NP_001394595.1:p.Cys44Phe
NP_001394596.1:p.Cys44Phe
NP_001394597.1:p.Cys44Phe
NP_001394598.1:p.Cys44Phe
NP_001394599.1:p.Cys44Phe
NP_001394600.1:p.Cys44Phe
NP_001394601.1:p.Cys44Phe
NP_001394602.1:p.Cys44Phe
NP_001394603.1:p.Cys44Phe
NP_001394604.1:p.Cys44Phe
NP_001394605.1:p.Cys44Phe
NP_001394606.1:p.Cys44Phe
NP_001394607.1:p.Cys44Phe
NP_001394608.1:p.Cys44Phe
NP_001394609.1:p.Cys44Phe
NP_001394610.1:p.Cys44Phe
NP_001394611.1:p.Cys44Phe
NP_001394612.1:p.Cys44Phe
NP_001394613.1:p.Cys44Phe
NP_001394614.1:p.Cys44Phe
NP_001394615.1:p.Cys44Phe
NP_001394616.1:p.Cys44Phe
NP_001394617.1:p.Cys44Phe
NP_001394618.1:p.Cys44Phe
NP_001394619.1:p.Cys44Phe
NP_001394620.1:p.Cys44Phe
NP_001394783.1:p.Cys44Phe
NP_001394787.1:p.Cys44Phe
NP_001394788.1:p.Cys44Phe
NP_001394789.1:p.Cys44Phe
NP_001394790.1:p.Cys44Phe
NP_001394791.1:p.Cys44Phe
NP_001394792.1:p.Cys44Phe
NP_001394803.1:p.Cys44Phe
NP_001394804.1:p.Cys44Phe
NP_001394848.1:p.Cys44Phe
NP_001394866.1:p.Cys44Phe
NP_001394867.1:p.Cys44Phe
NP_001394868.1:p.Cys44Phe
NP_001394869.1:p.Cys44Phe
NP_001394870.1:p.Cys44Phe
NP_001394897.1:p.Cys44Phe
NP_001394898.1:p.Cys44Phe
NP_001394899.1:p.Cys44Phe
NP_001394900.1:p.Cys44Phe
NP_001394901.1:p.Cys44Phe
NP_001394902.1:p.Cys44Phe
NP_001394903.1:p.Cys44Phe
NP_001394904.1:p.Cys44Phe
NP_001394905.1:p.Cys44Phe
NP_001394906.1:p.Cys44Phe
NP_001394907.1:p.Cys44Phe
NP_001394908.1:p.Cys44Phe
NP_001394909.1:p.Cys44Phe
NP_001394910.1:p.Cys44Phe
NP_001394911.1:p.Cys44Phe
NP_001394912.1:p.Cys44Phe
NP_001394913.1:p.Cys44Phe
NP_001394914.1:p.Cys44Phe
NP_001394915.1:p.Cys44Phe
NP_001394919.1:p.Cys44Phe
NP_001394920.1:p.Cys44Phe
NP_001394921.1:p.Cys44Phe
NP_001394922.1:p.Cys44Phe
NP_001395321.1:p.Cys44Phe
NP_001395325.1:p.Cys44Phe
NP_001395326.1:p.Cys44Phe
NP_001395327.1:p.Cys44Phe
NP_001395328.1:p.Cys44Phe
NP_001395329.1:p.Cys44Phe
NP_001395330.1:p.Cys44Phe
NP_001395331.1:p.Cys44Phe
NP_001395332.1:p.Cys44Phe
NP_001395333.1:p.Cys44Phe
NP_001395335.1:p.Cys44Phe
NP_001395336.1:p.Cys44Phe
NP_001395337.1:p.Cys44Phe
NP_001395338.1:p.Cys44Phe
NP_001395340.1:p.Cys44Phe
NP_001395341.1:p.Cys44Phe
NP_001395342.1:p.Cys44Phe
NP_001395343.1:p.Cys44Phe
NP_001395344.1:p.Cys44Phe
NP_001395345.1:p.Cys44Phe
NP_001395347.1:p.Cys44Phe
NP_001395348.1:p.Cys44Phe
NP_001395349.1:p.Cys44Phe
NP_001395350.1:p.Cys44Phe
NP_001395351.1:p.Cys44Phe
NP_001395352.1:p.Cys44Phe
NP_001395353.1:p.Cys44Phe
NP_001395354.1:p.Cys44Phe
NP_001395355.1:p.Cys44Phe
NP_001395356.1:p.Cys44Phe
NP_001395357.1:p.Cys44Phe
NP_001395358.1:p.Cys44Phe
NP_001395359.1:p.Cys44Phe
NP_001395360.1:p.Cys44Phe
NP_001395361.1:p.Cys44Phe
NP_001395362.1:p.Cys44Phe
NP_001395363.1:p.Cys44Phe
NP_001395364.1:p.Cys44Phe
NP_001395365.1:p.Cys44Phe
NP_001395366.1:p.Cys44Phe
NP_001395367.1:p.Cys44Phe
NP_001395368.1:p.Cys44Phe
NP_001395369.1:p.Cys44Phe
NP_001395370.1:p.Cys44Phe
NP_001395371.1:p.Cys44Phe
NP_001395372.1:p.Cys44Phe
NP_001395373.1:p.Cys44Phe
NP_001395374.1:p.Cys44Phe
NP_001395375.1:p.Cys44Phe
NP_001395376.1:p.Cys44Phe
NP_001395377.1:p.Cys44Phe
NP_001395379.1:p.Cys44Phe
NP_001395401.1:p.Cys44Phe
NP_001395402.1:p.Cys44Phe
NP_001395403.1:p.Cys44Phe
NP_001395404.1:p.Cys44Phe
NP_001395405.1:p.Cys44Phe
NP_001395423.1:p.Cys44Phe
NP_001395424.1:p.Cys44Phe
NP_009225.1:p.Cys44Phe
NP_009225.1:p.Cys44Phe
NP_009229.2:p.Cys44Phe
NP_009229.2:p.Cys44Phe
NP_009230.2:p.Cys44Phe
NP_009231.2:p.Cys44Phe
NP_009235.2:p.Cys44Phe
LRG_292t1:c.131G>T
LRG_292:g.102255G>T
LRG_292p1:p.Cys44Phe
NC_000017.10:g.41267746C>A
NM_007294.3:c.131G>T
NM_007298.3:c.131G>T
NM_007300.3:c.131G>T
NR_027676.2:n.333G>T
U14680.1:n.250G>T
p.C44F

Nucleotide change:

250G>T

Protein change:

C44F

Links:

dbSNP: rs80357446

NCBI 1000 Genomes Browser:

rs80357446

Molecular consequence:

NM_007297.4:c.-8+8288G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.333G>T - 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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PREDICTED: Polistes fuscatus laminin subunit gamma-1 (LOC122523612), transcript ...
PREDICTED: Polistes fuscatus laminin subunit gamma-1 (LOC122523612), transcript variant X1, mRNA
gi|2093700632|ref|XM_043645477.1|

Nucleotide
Rattus norvegicus tripartite motif-containing 59, mRNA (cDNA clone MGC:189139 IM...
Rattus norvegicus tripartite motif-containing 59, mRNA (cDNA clone MGC:189139 IMAGE:9035331), complete cds
gi|197245952|gb|BC168884.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000217719	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 27, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11573085, 28486781, 30209399 Citation Link,
SCV000682947	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 11573085, 12048272, 16267036, 16912212, 18159056, 19241424, 20103620, 22711857, 22713736, 23161852, 25823446, 28486781, 30209399, 31131967, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000217719

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 27, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000682947

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 11, 2023)

germline

clinical testing

PubMed (15)
[See all records that cite these PMIDs]

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

Citations

PubMed

Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.

Brzovic PS, Rajagopal P, Hoyt DW, King MC, Klevit RE.

Nat Struct Biol. 2001 Oct;8(10):833-7.

PubMed [citation]

PMID:: 11573085

Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

Euhus DM, Smith KC, Robinson L, Stucky A, Olopade OI, Cummings S, Garber JE, Chittenden A, Mills GB, Rieger P, Esserman L, Crawford B, Hughes KS, Roche CA, Ganz PA, Seldon J, Fabian CJ, Klemp J, Tomlinson G.

J Natl Cancer Inst. 2002 Jun 5;94(11):844-51.

PubMed [citation]

PMID:: 12048272

See all PubMed Citations (15)

Details of each submission

From Ambry Genetics, SCV000217719.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.C44F pathogenic mutation (also known as c.131G>T), located in coding exon 2 of the BRCA1 gene, results from a G to T substitution at nucleotide position 131. The cysteine at codon 44 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This mutation occurs in the functionally important RING finger domain (Abkevich V et al. J. Med. Genet. 2004 Jul;41:492-507). Based on internal structural assessment, this alteration is predicted to disrupt formation of zinc binding site 1 and overall folding of the BRCA1 protein. This is consistent with Brzovic PS et al (2010), who showed that experimentally altering ligands at this residue yields BRCA1 RING domains that fail to fold properly (Brzovic PS et al. Nat. Struct. Biol. 2001 Oct;8:833-7). Multiple functional studies have shown that this alteration is deleterious including a centrosome amplification assay, a homology directed repair assay, a single stranded annealing assay and a high throughput cell survival assay (Kais Z et al. Oncogene. 2012 Feb;31:799-804; Ransburgh DJ et al. Cancer Res. 2010 Feb;70:988-95; Towler WI et al. Hum. Mutat. 2013 Mar;34:439-45; Findlay GM et al. Nature, 2018 Sep;). This mutation has been identified in multiple breast and/or ovarian cancer families in the literature (Alsop K et al. J. Clin. Oncol. 2012 Jul;30:2654-63; Jalkh N et al. Hered Cancer Clin Pract. 2012 Jun;10:7; George J et al. Clin. Cancer. Res. 2013 Jul;19:3474-84; Lolas Hamameh S et al. Int. J. Cancer. 2017 Aug;141:750-756). In addition, two other alterations at the same codon, p.C44Y and p.C44S, have 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, and mutation co-occurrence (Easton DF et al. Am. J. Hum. Genet. 2007 Nov;81:873-83; Lindor NM et al. Hum. Mutat. 2012 Jan;33:8-21; Vallee MP et al. Hum. Mutat. 2012 Jan;33:22-8). 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 available evidence, this alteration is classified as a pathogenic 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, SCV000682947.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (15)

Description

This missense variant replaces cysteine with phenylalanine at codon 44 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 repair, ubiquitin E3 ligase, BARD1 binding, haploid cell proliferation and protein folding assays (PMID: 11573085, 20103620, 23161852, 25823446, 30209399; DOI:10.1158/2767-9764.CRC-21-0064). This variant has been reported in at least six individuals affected with breast and ovarian cancer (PMID: 16912212, 18159056, 22711857, 22713736, 28486781) and multiple suspected hereditary breast and ovarian cancer families (PMID: 12048272, 16267036, 19241424). This variant is also reported to have segregation and tumor pathology likelihood ratios for pathogenicity of 156.1745 and 41.2405, respectively (PMID: 31131967). This variant has not been identified 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

Last Updated: Nov 3, 2024

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