NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001386839.13
Allele description [Variation Report for NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)]
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
- 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>A (p.Cys44Tyr)
- Other names:
- p.C44Y:TGC>TAC
- HGVS:
- NC_000017.11:g.43115729C>T
- NG_005905.2:g.102255G>A
- NM_001407571.1:c.-58G>A
- NM_001407581.1:c.131G>A
- NM_001407582.1:c.131G>A
- NM_001407583.1:c.131G>A
- NM_001407585.1:c.131G>A
- NM_001407587.1:c.131G>A
- NM_001407590.1:c.131G>A
- NM_001407591.1:c.131G>A
- NM_001407593.1:c.131G>A
- NM_001407594.1:c.131G>A
- NM_001407596.1:c.131G>A
- NM_001407597.1:c.131G>A
- NM_001407598.1:c.131G>A
- NM_001407602.1:c.131G>A
- NM_001407603.1:c.131G>A
- NM_001407605.1:c.131G>A
- NM_001407610.1:c.131G>A
- NM_001407611.1:c.131G>A
- NM_001407612.1:c.131G>A
- NM_001407613.1:c.131G>A
- NM_001407614.1:c.131G>A
- NM_001407615.1:c.131G>A
- NM_001407616.1:c.131G>A
- NM_001407617.1:c.131G>A
- NM_001407618.1:c.131G>A
- NM_001407619.1:c.131G>A
- NM_001407620.1:c.131G>A
- NM_001407621.1:c.131G>A
- NM_001407622.1:c.131G>A
- NM_001407623.1:c.131G>A
- NM_001407624.1:c.131G>A
- NM_001407625.1:c.131G>A
- NM_001407626.1:c.131G>A
- NM_001407627.1:c.131G>A
- NM_001407628.1:c.131G>A
- NM_001407629.1:c.131G>A
- NM_001407630.1:c.131G>A
- NM_001407631.1:c.131G>A
- NM_001407632.1:c.131G>A
- NM_001407633.1:c.131G>A
- NM_001407634.1:c.131G>A
- NM_001407635.1:c.131G>A
- NM_001407636.1:c.131G>A
- NM_001407637.1:c.131G>A
- NM_001407638.1:c.131G>A
- NM_001407639.1:c.131G>A
- NM_001407640.1:c.131G>A
- NM_001407641.1:c.131G>A
- NM_001407642.1:c.131G>A
- NM_001407644.1:c.131G>A
- NM_001407645.1:c.131G>A
- NM_001407646.1:c.131G>A
- NM_001407647.1:c.131G>A
- NM_001407648.1:c.131G>A
- NM_001407649.1:c.131G>A
- NM_001407652.1:c.131G>A
- NM_001407653.1:c.131G>A
- NM_001407654.1:c.131G>A
- NM_001407655.1:c.131G>A
- NM_001407656.1:c.131G>A
- NM_001407657.1:c.131G>A
- NM_001407658.1:c.131G>A
- NM_001407659.1:c.131G>A
- NM_001407660.1:c.131G>A
- NM_001407661.1:c.131G>A
- NM_001407662.1:c.131G>A
- NM_001407663.1:c.131G>A
- NM_001407664.1:c.131G>A
- NM_001407665.1:c.131G>A
- NM_001407666.1:c.131G>A
- NM_001407667.1:c.131G>A
- NM_001407668.1:c.131G>A
- NM_001407669.1:c.131G>A
- NM_001407670.1:c.131G>A
- NM_001407671.1:c.131G>A
- NM_001407672.1:c.131G>A
- NM_001407673.1:c.131G>A
- NM_001407674.1:c.131G>A
- NM_001407675.1:c.131G>A
- NM_001407676.1:c.131G>A
- NM_001407677.1:c.131G>A
- NM_001407678.1:c.131G>A
- NM_001407679.1:c.131G>A
- NM_001407680.1:c.131G>A
- NM_001407681.1:c.131G>A
- NM_001407682.1:c.131G>A
- NM_001407683.1:c.131G>A
- NM_001407684.1:c.131G>A
- NM_001407685.1:c.131G>A
- NM_001407686.1:c.131G>A
- NM_001407687.1:c.131G>A
- NM_001407688.1:c.131G>A
- NM_001407689.1:c.131G>A
- NM_001407690.1:c.131G>A
- NM_001407691.1:c.131G>A
- NM_001407694.1:c.-127G>A
- NM_001407695.1:c.-131G>A
- NM_001407696.1:c.-127G>A
- NM_001407697.1:c.-11G>A
- NM_001407724.1:c.-127G>A
- NM_001407725.1:c.-11G>A
- NM_001407727.1:c.-127G>A
- NM_001407728.1:c.-11G>A
- NM_001407729.1:c.-11G>A
- NM_001407730.1:c.-11G>A
- NM_001407731.1:c.-127G>A
- NM_001407733.1:c.-127G>A
- NM_001407734.1:c.-11G>A
- NM_001407735.1:c.-11G>A
- NM_001407737.1:c.-11G>A
- NM_001407739.1:c.-11G>A
- NM_001407740.1:c.-11G>A
- NM_001407741.1:c.-11G>A
- NM_001407743.1:c.-11G>A
- NM_001407745.1:c.-11G>A
- NM_001407746.1:c.-127G>A
- NM_001407748.1:c.-11G>A
- NM_001407749.1:c.-127G>A
- NM_001407752.1:c.-11G>A
- NM_001407838.1:c.-11G>A
- NM_001407839.1:c.-11G>A
- NM_001407842.1:c.-127G>A
- NM_001407843.1:c.-127G>A
- NM_001407844.1:c.-11G>A
- NM_001407846.1:c.-11G>A
- NM_001407847.1:c.-11G>A
- NM_001407848.1:c.-11G>A
- NM_001407850.1:c.-11G>A
- NM_001407851.1:c.-11G>A
- NM_001407853.1:c.-58G>A
- NM_001407854.1:c.131G>A
- NM_001407858.1:c.131G>A
- NM_001407859.1:c.131G>A
- NM_001407860.1:c.131G>A
- NM_001407861.1:c.131G>A
- NM_001407862.1:c.131G>A
- NM_001407863.1:c.131G>A
- NM_001407874.1:c.131G>A
- NM_001407875.1:c.131G>A
- NM_001407879.1:c.-58G>A
- NM_001407882.1:c.-58G>A
- NM_001407884.1:c.-58G>A
- NM_001407885.1:c.-58G>A
- NM_001407886.1:c.-58G>A
- NM_001407887.1:c.-58G>A
- NM_001407889.1:c.-174G>A
- NM_001407894.1:c.-58G>A
- NM_001407895.1:c.-58G>A
- NM_001407896.1:c.-58G>A
- NM_001407897.1:c.-58G>A
- NM_001407899.1:c.-58G>A
- NM_001407900.1:c.-174G>A
- NM_001407904.1:c.-58G>A
- NM_001407906.1:c.-58G>A
- NM_001407907.1:c.-58G>A
- NM_001407908.1:c.-58G>A
- NM_001407909.1:c.-58G>A
- NM_001407910.1:c.-58G>A
- NM_001407915.1:c.-58G>A
- NM_001407916.1:c.-58G>A
- NM_001407917.1:c.-58G>A
- NM_001407918.1:c.-58G>A
- NM_001407919.1:c.131G>A
- NM_001407920.1:c.-11G>A
- NM_001407921.1:c.-11G>A
- NM_001407922.1:c.-11G>A
- NM_001407923.1:c.-11G>A
- NM_001407926.1:c.-11G>A
- NM_001407927.1:c.-11G>A
- NM_001407930.1:c.-127G>A
- NM_001407933.1:c.-11G>A
- NM_001407934.1:c.-11G>A
- NM_001407935.1:c.-11G>A
- NM_001407937.1:c.131G>A
- NM_001407938.1:c.131G>A
- NM_001407939.1:c.131G>A
- NM_001407940.1:c.131G>A
- NM_001407941.1:c.131G>A
- NM_001407942.1:c.-127G>A
- NM_001407943.1:c.-11G>A
- NM_001407944.1:c.-11G>A
- NM_001407946.1:c.-58G>A
- NM_001407947.1:c.-58G>A
- NM_001407948.1:c.-58G>A
- NM_001407949.1:c.-58G>A
- NM_001407950.1:c.-58G>A
- NM_001407951.1:c.-58G>A
- NM_001407952.1:c.-58G>A
- NM_001407953.1:c.-58G>A
- NM_001407954.1:c.-58G>A
- NM_001407955.1:c.-58G>A
- NM_001407956.1:c.-58G>A
- NM_001407957.1:c.-58G>A
- NM_001407958.1:c.-58G>A
- NM_001407960.1:c.-173G>A
- NM_001407962.1:c.-173G>A
- NM_001407964.1:c.-11G>A
- NM_001407965.1:c.-289G>A
- NM_001407968.1:c.131G>A
- NM_001407969.1:c.131G>A
- NM_001407970.1:c.131G>A
- NM_001407971.1:c.131G>A
- NM_001407972.1:c.131G>A
- NM_001407973.1:c.131G>A
- NM_001407974.1:c.131G>A
- NM_001407975.1:c.131G>A
- NM_001407976.1:c.131G>A
- NM_001407977.1:c.131G>A
- NM_001407978.1:c.131G>A
- NM_001407979.1:c.131G>A
- NM_001407980.1:c.131G>A
- NM_001407981.1:c.131G>A
- NM_001407982.1:c.131G>A
- NM_001407983.1:c.131G>A
- NM_001407984.1:c.131G>A
- NM_001407985.1:c.131G>A
- NM_001407986.1:c.131G>A
- NM_001407990.1:c.131G>A
- NM_001407991.1:c.131G>A
- NM_001407992.1:c.131G>A
- NM_001407993.1:c.131G>A
- NM_001408392.1:c.131G>A
- NM_001408396.1:c.131G>A
- NM_001408397.1:c.131G>A
- NM_001408398.1:c.131G>A
- NM_001408399.1:c.131G>A
- NM_001408400.1:c.131G>A
- NM_001408401.1:c.131G>A
- NM_001408402.1:c.131G>A
- NM_001408403.1:c.131G>A
- NM_001408404.1:c.131G>A
- NM_001408406.1:c.131G>A
- NM_001408407.1:c.131G>A
- NM_001408408.1:c.131G>A
- NM_001408409.1:c.131G>A
- NM_001408410.1:c.-11G>A
- NM_001408411.1:c.131G>A
- NM_001408412.1:c.131G>A
- NM_001408413.1:c.131G>A
- NM_001408414.1:c.131G>A
- NM_001408415.1:c.131G>A
- NM_001408416.1:c.131G>A
- NM_001408418.1:c.131G>A
- NM_001408419.1:c.131G>A
- NM_001408420.1:c.131G>A
- NM_001408421.1:c.131G>A
- NM_001408422.1:c.131G>A
- NM_001408423.1:c.131G>A
- NM_001408424.1:c.131G>A
- NM_001408425.1:c.131G>A
- NM_001408426.1:c.131G>A
- NM_001408427.1:c.131G>A
- NM_001408428.1:c.131G>A
- NM_001408429.1:c.131G>A
- NM_001408430.1:c.131G>A
- NM_001408431.1:c.131G>A
- NM_001408432.1:c.131G>A
- NM_001408433.1:c.131G>A
- NM_001408434.1:c.131G>A
- NM_001408435.1:c.131G>A
- NM_001408436.1:c.131G>A
- NM_001408437.1:c.131G>A
- NM_001408438.1:c.131G>A
- NM_001408439.1:c.131G>A
- NM_001408440.1:c.131G>A
- NM_001408441.1:c.131G>A
- NM_001408442.1:c.131G>A
- NM_001408443.1:c.131G>A
- NM_001408444.1:c.131G>A
- NM_001408445.1:c.131G>A
- NM_001408446.1:c.131G>A
- NM_001408447.1:c.131G>A
- NM_001408448.1:c.131G>A
- NM_001408450.1:c.131G>A
- NM_001408452.1:c.-11G>A
- NM_001408453.1:c.-11G>A
- NM_001408455.1:c.-127G>A
- NM_001408456.1:c.-127G>A
- NM_001408458.1:c.-11G>A
- NM_001408462.1:c.-11G>A
- NM_001408463.1:c.-11G>A
- NM_001408465.1:c.-131G>A
- NM_001408466.1:c.-11G>A
- NM_001408468.1:c.-127G>A
- NM_001408469.1:c.-11G>A
- NM_001408470.1:c.-11G>A
- NM_001408472.1:c.131G>A
- NM_001408473.1:c.131G>A
- NM_001408474.1:c.131G>A
- NM_001408475.1:c.131G>A
- NM_001408476.1:c.131G>A
- NM_001408478.1:c.-58G>A
- NM_001408479.1:c.-58G>A
- NM_001408480.1:c.-58G>A
- NM_001408481.1:c.-58G>A
- NM_001408482.1:c.-58G>A
- NM_001408483.1:c.-58G>A
- NM_001408484.1:c.-58G>A
- NM_001408485.1:c.-58G>A
- NM_001408489.1:c.-58G>A
- NM_001408490.1:c.-58G>A
- NM_001408491.1:c.-58G>A
- NM_001408492.1:c.-174G>A
- NM_001408493.1:c.-58G>A
- NM_001408494.1:c.131G>A
- NM_001408495.1:c.131G>A
- NM_001408497.1:c.-11G>A
- NM_001408499.1:c.-11G>A
- NM_001408500.1:c.-11G>A
- NM_001408501.1:c.-127G>A
- NM_001408502.1:c.-58G>A
- NM_001408503.1:c.-11G>A
- NM_001408504.1:c.-11G>A
- NM_001408505.1:c.-11G>A
- NM_001408506.1:c.-58G>A
- NM_001408507.1:c.-58G>A
- NM_001408508.1:c.-58G>A
- NM_001408509.1:c.-58G>A
- NM_001408510.1:c.-173G>A
- NM_001408512.1:c.-173G>A
- NM_001408513.1:c.-58G>A
- NM_001408514.1:c.-58G>A
- NM_007294.4:c.131G>AMANE SELECT
- NM_007297.4:c.-8+8288G>A
- NM_007298.4:c.131G>A
- NM_007299.4:c.131G>A
- NM_007300.4:c.131G>A
- NM_007304.2:c.131G>A
- NP_001394510.1:p.Cys44Tyr
- NP_001394511.1:p.Cys44Tyr
- NP_001394512.1:p.Cys44Tyr
- NP_001394514.1:p.Cys44Tyr
- NP_001394516.1:p.Cys44Tyr
- NP_001394519.1:p.Cys44Tyr
- NP_001394520.1:p.Cys44Tyr
- NP_001394522.1:p.Cys44Tyr
- NP_001394523.1:p.Cys44Tyr
- NP_001394525.1:p.Cys44Tyr
- NP_001394526.1:p.Cys44Tyr
- NP_001394527.1:p.Cys44Tyr
- NP_001394531.1:p.Cys44Tyr
- NP_001394532.1:p.Cys44Tyr
- NP_001394534.1:p.Cys44Tyr
- NP_001394539.1:p.Cys44Tyr
- NP_001394540.1:p.Cys44Tyr
- NP_001394541.1:p.Cys44Tyr
- NP_001394542.1:p.Cys44Tyr
- NP_001394543.1:p.Cys44Tyr
- NP_001394544.1:p.Cys44Tyr
- NP_001394545.1:p.Cys44Tyr
- NP_001394546.1:p.Cys44Tyr
- NP_001394547.1:p.Cys44Tyr
- NP_001394548.1:p.Cys44Tyr
- NP_001394549.1:p.Cys44Tyr
- NP_001394550.1:p.Cys44Tyr
- NP_001394551.1:p.Cys44Tyr
- NP_001394552.1:p.Cys44Tyr
- NP_001394553.1:p.Cys44Tyr
- NP_001394554.1:p.Cys44Tyr
- NP_001394555.1:p.Cys44Tyr
- NP_001394556.1:p.Cys44Tyr
- NP_001394557.1:p.Cys44Tyr
- NP_001394558.1:p.Cys44Tyr
- NP_001394559.1:p.Cys44Tyr
- NP_001394560.1:p.Cys44Tyr
- NP_001394561.1:p.Cys44Tyr
- NP_001394562.1:p.Cys44Tyr
- NP_001394563.1:p.Cys44Tyr
- NP_001394564.1:p.Cys44Tyr
- NP_001394565.1:p.Cys44Tyr
- NP_001394566.1:p.Cys44Tyr
- NP_001394567.1:p.Cys44Tyr
- NP_001394568.1:p.Cys44Tyr
- NP_001394569.1:p.Cys44Tyr
- NP_001394570.1:p.Cys44Tyr
- NP_001394571.1:p.Cys44Tyr
- NP_001394573.1:p.Cys44Tyr
- NP_001394574.1:p.Cys44Tyr
- NP_001394575.1:p.Cys44Tyr
- NP_001394576.1:p.Cys44Tyr
- NP_001394577.1:p.Cys44Tyr
- NP_001394578.1:p.Cys44Tyr
- NP_001394581.1:p.Cys44Tyr
- NP_001394582.1:p.Cys44Tyr
- NP_001394583.1:p.Cys44Tyr
- NP_001394584.1:p.Cys44Tyr
- NP_001394585.1:p.Cys44Tyr
- NP_001394586.1:p.Cys44Tyr
- NP_001394587.1:p.Cys44Tyr
- NP_001394588.1:p.Cys44Tyr
- NP_001394589.1:p.Cys44Tyr
- NP_001394590.1:p.Cys44Tyr
- NP_001394591.1:p.Cys44Tyr
- NP_001394592.1:p.Cys44Tyr
- NP_001394593.1:p.Cys44Tyr
- NP_001394594.1:p.Cys44Tyr
- NP_001394595.1:p.Cys44Tyr
- NP_001394596.1:p.Cys44Tyr
- NP_001394597.1:p.Cys44Tyr
- NP_001394598.1:p.Cys44Tyr
- NP_001394599.1:p.Cys44Tyr
- NP_001394600.1:p.Cys44Tyr
- NP_001394601.1:p.Cys44Tyr
- NP_001394602.1:p.Cys44Tyr
- NP_001394603.1:p.Cys44Tyr
- NP_001394604.1:p.Cys44Tyr
- NP_001394605.1:p.Cys44Tyr
- NP_001394606.1:p.Cys44Tyr
- NP_001394607.1:p.Cys44Tyr
- NP_001394608.1:p.Cys44Tyr
- NP_001394609.1:p.Cys44Tyr
- NP_001394610.1:p.Cys44Tyr
- NP_001394611.1:p.Cys44Tyr
- NP_001394612.1:p.Cys44Tyr
- NP_001394613.1:p.Cys44Tyr
- NP_001394614.1:p.Cys44Tyr
- NP_001394615.1:p.Cys44Tyr
- NP_001394616.1:p.Cys44Tyr
- NP_001394617.1:p.Cys44Tyr
- NP_001394618.1:p.Cys44Tyr
- NP_001394619.1:p.Cys44Tyr
- NP_001394620.1:p.Cys44Tyr
- NP_001394783.1:p.Cys44Tyr
- NP_001394787.1:p.Cys44Tyr
- NP_001394788.1:p.Cys44Tyr
- NP_001394789.1:p.Cys44Tyr
- NP_001394790.1:p.Cys44Tyr
- NP_001394791.1:p.Cys44Tyr
- NP_001394792.1:p.Cys44Tyr
- NP_001394803.1:p.Cys44Tyr
- NP_001394804.1:p.Cys44Tyr
- NP_001394848.1:p.Cys44Tyr
- NP_001394866.1:p.Cys44Tyr
- NP_001394867.1:p.Cys44Tyr
- NP_001394868.1:p.Cys44Tyr
- NP_001394869.1:p.Cys44Tyr
- NP_001394870.1:p.Cys44Tyr
- NP_001394897.1:p.Cys44Tyr
- NP_001394898.1:p.Cys44Tyr
- NP_001394899.1:p.Cys44Tyr
- NP_001394900.1:p.Cys44Tyr
- NP_001394901.1:p.Cys44Tyr
- NP_001394902.1:p.Cys44Tyr
- NP_001394903.1:p.Cys44Tyr
- NP_001394904.1:p.Cys44Tyr
- NP_001394905.1:p.Cys44Tyr
- NP_001394906.1:p.Cys44Tyr
- NP_001394907.1:p.Cys44Tyr
- NP_001394908.1:p.Cys44Tyr
- NP_001394909.1:p.Cys44Tyr
- NP_001394910.1:p.Cys44Tyr
- NP_001394911.1:p.Cys44Tyr
- NP_001394912.1:p.Cys44Tyr
- NP_001394913.1:p.Cys44Tyr
- NP_001394914.1:p.Cys44Tyr
- NP_001394915.1:p.Cys44Tyr
- NP_001394919.1:p.Cys44Tyr
- NP_001394920.1:p.Cys44Tyr
- NP_001394921.1:p.Cys44Tyr
- NP_001394922.1:p.Cys44Tyr
- NP_001395321.1:p.Cys44Tyr
- NP_001395325.1:p.Cys44Tyr
- NP_001395326.1:p.Cys44Tyr
- NP_001395327.1:p.Cys44Tyr
- NP_001395328.1:p.Cys44Tyr
- NP_001395329.1:p.Cys44Tyr
- NP_001395330.1:p.Cys44Tyr
- NP_001395331.1:p.Cys44Tyr
- NP_001395332.1:p.Cys44Tyr
- NP_001395333.1:p.Cys44Tyr
- NP_001395335.1:p.Cys44Tyr
- NP_001395336.1:p.Cys44Tyr
- NP_001395337.1:p.Cys44Tyr
- NP_001395338.1:p.Cys44Tyr
- NP_001395340.1:p.Cys44Tyr
- NP_001395341.1:p.Cys44Tyr
- NP_001395342.1:p.Cys44Tyr
- NP_001395343.1:p.Cys44Tyr
- NP_001395344.1:p.Cys44Tyr
- NP_001395345.1:p.Cys44Tyr
- NP_001395347.1:p.Cys44Tyr
- NP_001395348.1:p.Cys44Tyr
- NP_001395349.1:p.Cys44Tyr
- NP_001395350.1:p.Cys44Tyr
- NP_001395351.1:p.Cys44Tyr
- NP_001395352.1:p.Cys44Tyr
- NP_001395353.1:p.Cys44Tyr
- NP_001395354.1:p.Cys44Tyr
- NP_001395355.1:p.Cys44Tyr
- NP_001395356.1:p.Cys44Tyr
- NP_001395357.1:p.Cys44Tyr
- NP_001395358.1:p.Cys44Tyr
- NP_001395359.1:p.Cys44Tyr
- NP_001395360.1:p.Cys44Tyr
- NP_001395361.1:p.Cys44Tyr
- NP_001395362.1:p.Cys44Tyr
- NP_001395363.1:p.Cys44Tyr
- NP_001395364.1:p.Cys44Tyr
- NP_001395365.1:p.Cys44Tyr
- NP_001395366.1:p.Cys44Tyr
- NP_001395367.1:p.Cys44Tyr
- NP_001395368.1:p.Cys44Tyr
- NP_001395369.1:p.Cys44Tyr
- NP_001395370.1:p.Cys44Tyr
- NP_001395371.1:p.Cys44Tyr
- NP_001395372.1:p.Cys44Tyr
- NP_001395373.1:p.Cys44Tyr
- NP_001395374.1:p.Cys44Tyr
- NP_001395375.1:p.Cys44Tyr
- NP_001395376.1:p.Cys44Tyr
- NP_001395377.1:p.Cys44Tyr
- NP_001395379.1:p.Cys44Tyr
- NP_001395401.1:p.Cys44Tyr
- NP_001395402.1:p.Cys44Tyr
- NP_001395403.1:p.Cys44Tyr
- NP_001395404.1:p.Cys44Tyr
- NP_001395405.1:p.Cys44Tyr
- NP_001395423.1:p.Cys44Tyr
- NP_001395424.1:p.Cys44Tyr
- NP_009225.1:p.Cys44Tyr
- NP_009225.1:p.Cys44Tyr
- NP_009229.2:p.Cys44Tyr
- NP_009229.2:p.Cys44Tyr
- NP_009230.2:p.Cys44Tyr
- NP_009231.2:p.Cys44Tyr
- NP_009235.2:p.Cys44Tyr
- LRG_292t1:c.131G>A
- LRG_292:g.102255G>A
- LRG_292p1:p.Cys44Tyr
- NC_000017.10:g.41267746C>T
- NM_007294.3:c.131G>A
- NM_007298.3:c.131G>A
- NR_027676.2:n.333G>A
- U14680.1:n.250G>A
This HGVS expression did not pass validation- Nucleotide change:
- 250G>A
- Protein change:
- C44Y
- Links:
- BRCA1-HCI: BRCA1_00114; dbSNP: rs80357446
- NCBI 1000 Genomes Browser:
- rs80357446
- Molecular consequence:
- NM_007297.4:c.-8+8288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.333G>A - 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.131G>A, a MISSENSE variant, produced a function score of -2.4, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001587208 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Nov 30, 2023) | germline | clinical testing |
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
Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS.
Clin Cancer Res. 2016 Aug 15;22(16):4087-4094. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.
- PMID:
- 27083775
- PMCID:
- PMC4987173
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV001587208.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (7) |
Description
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 44 of the BRCA1 protein (p.Cys44Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and ovarian cancer (PMID: 19543972, 27083775). ClinVar contains an entry for this variant (Variation ID: 54199). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 21922593, 27272900). This variant disrupts the p.Cys44 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19543972, 21990134, 27272900). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024