NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 25, 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:
- RCV003530163.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser)]
NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser)
- 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>C (p.Cys44Ser)
- HGVS:
- NC_000017.11:g.43115729C>G
- NG_005905.2:g.102255G>C
- NM_001407571.1:c.-58G>C
- NM_001407581.1:c.131G>C
- NM_001407582.1:c.131G>C
- NM_001407583.1:c.131G>C
- NM_001407585.1:c.131G>C
- NM_001407587.1:c.131G>C
- NM_001407590.1:c.131G>C
- NM_001407591.1:c.131G>C
- NM_001407593.1:c.131G>C
- NM_001407594.1:c.131G>C
- NM_001407596.1:c.131G>C
- NM_001407597.1:c.131G>C
- NM_001407598.1:c.131G>C
- NM_001407602.1:c.131G>C
- NM_001407603.1:c.131G>C
- NM_001407605.1:c.131G>C
- NM_001407610.1:c.131G>C
- NM_001407611.1:c.131G>C
- NM_001407612.1:c.131G>C
- NM_001407613.1:c.131G>C
- NM_001407614.1:c.131G>C
- NM_001407615.1:c.131G>C
- NM_001407616.1:c.131G>C
- NM_001407617.1:c.131G>C
- NM_001407618.1:c.131G>C
- NM_001407619.1:c.131G>C
- NM_001407620.1:c.131G>C
- NM_001407621.1:c.131G>C
- NM_001407622.1:c.131G>C
- NM_001407623.1:c.131G>C
- NM_001407624.1:c.131G>C
- NM_001407625.1:c.131G>C
- NM_001407626.1:c.131G>C
- NM_001407627.1:c.131G>C
- NM_001407628.1:c.131G>C
- NM_001407629.1:c.131G>C
- NM_001407630.1:c.131G>C
- NM_001407631.1:c.131G>C
- NM_001407632.1:c.131G>C
- NM_001407633.1:c.131G>C
- NM_001407634.1:c.131G>C
- NM_001407635.1:c.131G>C
- NM_001407636.1:c.131G>C
- NM_001407637.1:c.131G>C
- NM_001407638.1:c.131G>C
- NM_001407639.1:c.131G>C
- NM_001407640.1:c.131G>C
- NM_001407641.1:c.131G>C
- NM_001407642.1:c.131G>C
- NM_001407644.1:c.131G>C
- NM_001407645.1:c.131G>C
- NM_001407646.1:c.131G>C
- NM_001407647.1:c.131G>C
- NM_001407648.1:c.131G>C
- NM_001407649.1:c.131G>C
- NM_001407652.1:c.131G>C
- NM_001407653.1:c.131G>C
- NM_001407654.1:c.131G>C
- NM_001407655.1:c.131G>C
- NM_001407656.1:c.131G>C
- NM_001407657.1:c.131G>C
- NM_001407658.1:c.131G>C
- NM_001407659.1:c.131G>C
- NM_001407660.1:c.131G>C
- NM_001407661.1:c.131G>C
- NM_001407662.1:c.131G>C
- NM_001407663.1:c.131G>C
- NM_001407664.1:c.131G>C
- NM_001407665.1:c.131G>C
- NM_001407666.1:c.131G>C
- NM_001407667.1:c.131G>C
- NM_001407668.1:c.131G>C
- NM_001407669.1:c.131G>C
- NM_001407670.1:c.131G>C
- NM_001407671.1:c.131G>C
- NM_001407672.1:c.131G>C
- NM_001407673.1:c.131G>C
- NM_001407674.1:c.131G>C
- NM_001407675.1:c.131G>C
- NM_001407676.1:c.131G>C
- NM_001407677.1:c.131G>C
- NM_001407678.1:c.131G>C
- NM_001407679.1:c.131G>C
- NM_001407680.1:c.131G>C
- NM_001407681.1:c.131G>C
- NM_001407682.1:c.131G>C
- NM_001407683.1:c.131G>C
- NM_001407684.1:c.131G>C
- NM_001407685.1:c.131G>C
- NM_001407686.1:c.131G>C
- NM_001407687.1:c.131G>C
- NM_001407688.1:c.131G>C
- NM_001407689.1:c.131G>C
- NM_001407690.1:c.131G>C
- NM_001407691.1:c.131G>C
- NM_001407694.1:c.-127G>C
- NM_001407695.1:c.-131G>C
- NM_001407696.1:c.-127G>C
- NM_001407697.1:c.-11G>C
- NM_001407724.1:c.-127G>C
- NM_001407725.1:c.-11G>C
- NM_001407727.1:c.-127G>C
- NM_001407728.1:c.-11G>C
- NM_001407729.1:c.-11G>C
- NM_001407730.1:c.-11G>C
- NM_001407731.1:c.-127G>C
- NM_001407733.1:c.-127G>C
- NM_001407734.1:c.-11G>C
- NM_001407735.1:c.-11G>C
- NM_001407737.1:c.-11G>C
- NM_001407739.1:c.-11G>C
- NM_001407740.1:c.-11G>C
- NM_001407741.1:c.-11G>C
- NM_001407743.1:c.-11G>C
- NM_001407745.1:c.-11G>C
- NM_001407746.1:c.-127G>C
- NM_001407748.1:c.-11G>C
- NM_001407749.1:c.-127G>C
- NM_001407752.1:c.-11G>C
- NM_001407838.1:c.-11G>C
- NM_001407839.1:c.-11G>C
- NM_001407842.1:c.-127G>C
- NM_001407843.1:c.-127G>C
- NM_001407844.1:c.-11G>C
- NM_001407846.1:c.-11G>C
- NM_001407847.1:c.-11G>C
- NM_001407848.1:c.-11G>C
- NM_001407850.1:c.-11G>C
- NM_001407851.1:c.-11G>C
- NM_001407853.1:c.-58G>C
- NM_001407854.1:c.131G>C
- NM_001407858.1:c.131G>C
- NM_001407859.1:c.131G>C
- NM_001407860.1:c.131G>C
- NM_001407861.1:c.131G>C
- NM_001407862.1:c.131G>C
- NM_001407863.1:c.131G>C
- NM_001407874.1:c.131G>C
- NM_001407875.1:c.131G>C
- NM_001407879.1:c.-58G>C
- NM_001407882.1:c.-58G>C
- NM_001407884.1:c.-58G>C
- NM_001407885.1:c.-58G>C
- NM_001407886.1:c.-58G>C
- NM_001407887.1:c.-58G>C
- NM_001407889.1:c.-174G>C
- NM_001407894.1:c.-58G>C
- NM_001407895.1:c.-58G>C
- NM_001407896.1:c.-58G>C
- NM_001407897.1:c.-58G>C
- NM_001407899.1:c.-58G>C
- NM_001407900.1:c.-174G>C
- NM_001407904.1:c.-58G>C
- NM_001407906.1:c.-58G>C
- NM_001407907.1:c.-58G>C
- NM_001407908.1:c.-58G>C
- NM_001407909.1:c.-58G>C
- NM_001407910.1:c.-58G>C
- NM_001407915.1:c.-58G>C
- NM_001407916.1:c.-58G>C
- NM_001407917.1:c.-58G>C
- NM_001407918.1:c.-58G>C
- NM_001407919.1:c.131G>C
- NM_001407920.1:c.-11G>C
- NM_001407921.1:c.-11G>C
- NM_001407922.1:c.-11G>C
- NM_001407923.1:c.-11G>C
- NM_001407926.1:c.-11G>C
- NM_001407927.1:c.-11G>C
- NM_001407930.1:c.-127G>C
- NM_001407933.1:c.-11G>C
- NM_001407934.1:c.-11G>C
- NM_001407935.1:c.-11G>C
- NM_001407937.1:c.131G>C
- NM_001407938.1:c.131G>C
- NM_001407939.1:c.131G>C
- NM_001407940.1:c.131G>C
- NM_001407941.1:c.131G>C
- NM_001407942.1:c.-127G>C
- NM_001407943.1:c.-11G>C
- NM_001407944.1:c.-11G>C
- NM_001407946.1:c.-58G>C
- NM_001407947.1:c.-58G>C
- NM_001407948.1:c.-58G>C
- NM_001407949.1:c.-58G>C
- NM_001407950.1:c.-58G>C
- NM_001407951.1:c.-58G>C
- NM_001407952.1:c.-58G>C
- NM_001407953.1:c.-58G>C
- NM_001407954.1:c.-58G>C
- NM_001407955.1:c.-58G>C
- NM_001407956.1:c.-58G>C
- NM_001407957.1:c.-58G>C
- NM_001407958.1:c.-58G>C
- NM_001407960.1:c.-173G>C
- NM_001407962.1:c.-173G>C
- NM_001407964.1:c.-11G>C
- NM_001407965.1:c.-289G>C
- NM_001407968.1:c.131G>C
- NM_001407969.1:c.131G>C
- NM_001407970.1:c.131G>C
- NM_001407971.1:c.131G>C
- NM_001407972.1:c.131G>C
- NM_001407973.1:c.131G>C
- NM_001407974.1:c.131G>C
- NM_001407975.1:c.131G>C
- NM_001407976.1:c.131G>C
- NM_001407977.1:c.131G>C
- NM_001407978.1:c.131G>C
- NM_001407979.1:c.131G>C
- NM_001407980.1:c.131G>C
- NM_001407981.1:c.131G>C
- NM_001407982.1:c.131G>C
- NM_001407983.1:c.131G>C
- NM_001407984.1:c.131G>C
- NM_001407985.1:c.131G>C
- NM_001407986.1:c.131G>C
- NM_001407990.1:c.131G>C
- NM_001407991.1:c.131G>C
- NM_001407992.1:c.131G>C
- NM_001407993.1:c.131G>C
- NM_001408392.1:c.131G>C
- NM_001408396.1:c.131G>C
- NM_001408397.1:c.131G>C
- NM_001408398.1:c.131G>C
- NM_001408399.1:c.131G>C
- NM_001408400.1:c.131G>C
- NM_001408401.1:c.131G>C
- NM_001408402.1:c.131G>C
- NM_001408403.1:c.131G>C
- NM_001408404.1:c.131G>C
- NM_001408406.1:c.131G>C
- NM_001408407.1:c.131G>C
- NM_001408408.1:c.131G>C
- NM_001408409.1:c.131G>C
- NM_001408410.1:c.-11G>C
- NM_001408411.1:c.131G>C
- NM_001408412.1:c.131G>C
- NM_001408413.1:c.131G>C
- NM_001408414.1:c.131G>C
- NM_001408415.1:c.131G>C
- NM_001408416.1:c.131G>C
- NM_001408418.1:c.131G>C
- NM_001408419.1:c.131G>C
- NM_001408420.1:c.131G>C
- NM_001408421.1:c.131G>C
- NM_001408422.1:c.131G>C
- NM_001408423.1:c.131G>C
- NM_001408424.1:c.131G>C
- NM_001408425.1:c.131G>C
- NM_001408426.1:c.131G>C
- NM_001408427.1:c.131G>C
- NM_001408428.1:c.131G>C
- NM_001408429.1:c.131G>C
- NM_001408430.1:c.131G>C
- NM_001408431.1:c.131G>C
- NM_001408432.1:c.131G>C
- NM_001408433.1:c.131G>C
- NM_001408434.1:c.131G>C
- NM_001408435.1:c.131G>C
- NM_001408436.1:c.131G>C
- NM_001408437.1:c.131G>C
- NM_001408438.1:c.131G>C
- NM_001408439.1:c.131G>C
- NM_001408440.1:c.131G>C
- NM_001408441.1:c.131G>C
- NM_001408442.1:c.131G>C
- NM_001408443.1:c.131G>C
- NM_001408444.1:c.131G>C
- NM_001408445.1:c.131G>C
- NM_001408446.1:c.131G>C
- NM_001408447.1:c.131G>C
- NM_001408448.1:c.131G>C
- NM_001408450.1:c.131G>C
- NM_001408452.1:c.-11G>C
- NM_001408453.1:c.-11G>C
- NM_001408455.1:c.-127G>C
- NM_001408456.1:c.-127G>C
- NM_001408458.1:c.-11G>C
- NM_001408462.1:c.-11G>C
- NM_001408463.1:c.-11G>C
- NM_001408465.1:c.-131G>C
- NM_001408466.1:c.-11G>C
- NM_001408468.1:c.-127G>C
- NM_001408469.1:c.-11G>C
- NM_001408470.1:c.-11G>C
- NM_001408472.1:c.131G>C
- NM_001408473.1:c.131G>C
- NM_001408474.1:c.131G>C
- NM_001408475.1:c.131G>C
- NM_001408476.1:c.131G>C
- NM_001408478.1:c.-58G>C
- NM_001408479.1:c.-58G>C
- NM_001408480.1:c.-58G>C
- NM_001408481.1:c.-58G>C
- NM_001408482.1:c.-58G>C
- NM_001408483.1:c.-58G>C
- NM_001408484.1:c.-58G>C
- NM_001408485.1:c.-58G>C
- NM_001408489.1:c.-58G>C
- NM_001408490.1:c.-58G>C
- NM_001408491.1:c.-58G>C
- NM_001408492.1:c.-174G>C
- NM_001408493.1:c.-58G>C
- NM_001408494.1:c.131G>C
- NM_001408495.1:c.131G>C
- NM_001408497.1:c.-11G>C
- NM_001408499.1:c.-11G>C
- NM_001408500.1:c.-11G>C
- NM_001408501.1:c.-127G>C
- NM_001408502.1:c.-58G>C
- NM_001408503.1:c.-11G>C
- NM_001408504.1:c.-11G>C
- NM_001408505.1:c.-11G>C
- NM_001408506.1:c.-58G>C
- NM_001408507.1:c.-58G>C
- NM_001408508.1:c.-58G>C
- NM_001408509.1:c.-58G>C
- NM_001408510.1:c.-173G>C
- NM_001408512.1:c.-173G>C
- NM_001408513.1:c.-58G>C
- NM_001408514.1:c.-58G>C
- NM_007294.4:c.131G>CMANE SELECT
- NM_007297.4:c.-8+8288G>C
- NM_007298.4:c.131G>C
- NM_007299.4:c.131G>C
- NM_007300.4:c.131G>C
- NM_007304.2:c.131G>C
- NP_001394510.1:p.Cys44Ser
- NP_001394511.1:p.Cys44Ser
- NP_001394512.1:p.Cys44Ser
- NP_001394514.1:p.Cys44Ser
- NP_001394516.1:p.Cys44Ser
- NP_001394519.1:p.Cys44Ser
- NP_001394520.1:p.Cys44Ser
- NP_001394522.1:p.Cys44Ser
- NP_001394523.1:p.Cys44Ser
- NP_001394525.1:p.Cys44Ser
- NP_001394526.1:p.Cys44Ser
- NP_001394527.1:p.Cys44Ser
- NP_001394531.1:p.Cys44Ser
- NP_001394532.1:p.Cys44Ser
- NP_001394534.1:p.Cys44Ser
- NP_001394539.1:p.Cys44Ser
- NP_001394540.1:p.Cys44Ser
- NP_001394541.1:p.Cys44Ser
- NP_001394542.1:p.Cys44Ser
- NP_001394543.1:p.Cys44Ser
- NP_001394544.1:p.Cys44Ser
- NP_001394545.1:p.Cys44Ser
- NP_001394546.1:p.Cys44Ser
- NP_001394547.1:p.Cys44Ser
- NP_001394548.1:p.Cys44Ser
- NP_001394549.1:p.Cys44Ser
- NP_001394550.1:p.Cys44Ser
- NP_001394551.1:p.Cys44Ser
- NP_001394552.1:p.Cys44Ser
- NP_001394553.1:p.Cys44Ser
- NP_001394554.1:p.Cys44Ser
- NP_001394555.1:p.Cys44Ser
- NP_001394556.1:p.Cys44Ser
- NP_001394557.1:p.Cys44Ser
- NP_001394558.1:p.Cys44Ser
- NP_001394559.1:p.Cys44Ser
- NP_001394560.1:p.Cys44Ser
- NP_001394561.1:p.Cys44Ser
- NP_001394562.1:p.Cys44Ser
- NP_001394563.1:p.Cys44Ser
- NP_001394564.1:p.Cys44Ser
- NP_001394565.1:p.Cys44Ser
- NP_001394566.1:p.Cys44Ser
- NP_001394567.1:p.Cys44Ser
- NP_001394568.1:p.Cys44Ser
- NP_001394569.1:p.Cys44Ser
- NP_001394570.1:p.Cys44Ser
- NP_001394571.1:p.Cys44Ser
- NP_001394573.1:p.Cys44Ser
- NP_001394574.1:p.Cys44Ser
- NP_001394575.1:p.Cys44Ser
- NP_001394576.1:p.Cys44Ser
- NP_001394577.1:p.Cys44Ser
- NP_001394578.1:p.Cys44Ser
- NP_001394581.1:p.Cys44Ser
- NP_001394582.1:p.Cys44Ser
- NP_001394583.1:p.Cys44Ser
- NP_001394584.1:p.Cys44Ser
- NP_001394585.1:p.Cys44Ser
- NP_001394586.1:p.Cys44Ser
- NP_001394587.1:p.Cys44Ser
- NP_001394588.1:p.Cys44Ser
- NP_001394589.1:p.Cys44Ser
- NP_001394590.1:p.Cys44Ser
- NP_001394591.1:p.Cys44Ser
- NP_001394592.1:p.Cys44Ser
- NP_001394593.1:p.Cys44Ser
- NP_001394594.1:p.Cys44Ser
- NP_001394595.1:p.Cys44Ser
- NP_001394596.1:p.Cys44Ser
- NP_001394597.1:p.Cys44Ser
- NP_001394598.1:p.Cys44Ser
- NP_001394599.1:p.Cys44Ser
- NP_001394600.1:p.Cys44Ser
- NP_001394601.1:p.Cys44Ser
- NP_001394602.1:p.Cys44Ser
- NP_001394603.1:p.Cys44Ser
- NP_001394604.1:p.Cys44Ser
- NP_001394605.1:p.Cys44Ser
- NP_001394606.1:p.Cys44Ser
- NP_001394607.1:p.Cys44Ser
- NP_001394608.1:p.Cys44Ser
- NP_001394609.1:p.Cys44Ser
- NP_001394610.1:p.Cys44Ser
- NP_001394611.1:p.Cys44Ser
- NP_001394612.1:p.Cys44Ser
- NP_001394613.1:p.Cys44Ser
- NP_001394614.1:p.Cys44Ser
- NP_001394615.1:p.Cys44Ser
- NP_001394616.1:p.Cys44Ser
- NP_001394617.1:p.Cys44Ser
- NP_001394618.1:p.Cys44Ser
- NP_001394619.1:p.Cys44Ser
- NP_001394620.1:p.Cys44Ser
- NP_001394783.1:p.Cys44Ser
- NP_001394787.1:p.Cys44Ser
- NP_001394788.1:p.Cys44Ser
- NP_001394789.1:p.Cys44Ser
- NP_001394790.1:p.Cys44Ser
- NP_001394791.1:p.Cys44Ser
- NP_001394792.1:p.Cys44Ser
- NP_001394803.1:p.Cys44Ser
- NP_001394804.1:p.Cys44Ser
- NP_001394848.1:p.Cys44Ser
- NP_001394866.1:p.Cys44Ser
- NP_001394867.1:p.Cys44Ser
- NP_001394868.1:p.Cys44Ser
- NP_001394869.1:p.Cys44Ser
- NP_001394870.1:p.Cys44Ser
- NP_001394897.1:p.Cys44Ser
- NP_001394898.1:p.Cys44Ser
- NP_001394899.1:p.Cys44Ser
- NP_001394900.1:p.Cys44Ser
- NP_001394901.1:p.Cys44Ser
- NP_001394902.1:p.Cys44Ser
- NP_001394903.1:p.Cys44Ser
- NP_001394904.1:p.Cys44Ser
- NP_001394905.1:p.Cys44Ser
- NP_001394906.1:p.Cys44Ser
- NP_001394907.1:p.Cys44Ser
- NP_001394908.1:p.Cys44Ser
- NP_001394909.1:p.Cys44Ser
- NP_001394910.1:p.Cys44Ser
- NP_001394911.1:p.Cys44Ser
- NP_001394912.1:p.Cys44Ser
- NP_001394913.1:p.Cys44Ser
- NP_001394914.1:p.Cys44Ser
- NP_001394915.1:p.Cys44Ser
- NP_001394919.1:p.Cys44Ser
- NP_001394920.1:p.Cys44Ser
- NP_001394921.1:p.Cys44Ser
- NP_001394922.1:p.Cys44Ser
- NP_001395321.1:p.Cys44Ser
- NP_001395325.1:p.Cys44Ser
- NP_001395326.1:p.Cys44Ser
- NP_001395327.1:p.Cys44Ser
- NP_001395328.1:p.Cys44Ser
- NP_001395329.1:p.Cys44Ser
- NP_001395330.1:p.Cys44Ser
- NP_001395331.1:p.Cys44Ser
- NP_001395332.1:p.Cys44Ser
- NP_001395333.1:p.Cys44Ser
- NP_001395335.1:p.Cys44Ser
- NP_001395336.1:p.Cys44Ser
- NP_001395337.1:p.Cys44Ser
- NP_001395338.1:p.Cys44Ser
- NP_001395340.1:p.Cys44Ser
- NP_001395341.1:p.Cys44Ser
- NP_001395342.1:p.Cys44Ser
- NP_001395343.1:p.Cys44Ser
- NP_001395344.1:p.Cys44Ser
- NP_001395345.1:p.Cys44Ser
- NP_001395347.1:p.Cys44Ser
- NP_001395348.1:p.Cys44Ser
- NP_001395349.1:p.Cys44Ser
- NP_001395350.1:p.Cys44Ser
- NP_001395351.1:p.Cys44Ser
- NP_001395352.1:p.Cys44Ser
- NP_001395353.1:p.Cys44Ser
- NP_001395354.1:p.Cys44Ser
- NP_001395355.1:p.Cys44Ser
- NP_001395356.1:p.Cys44Ser
- NP_001395357.1:p.Cys44Ser
- NP_001395358.1:p.Cys44Ser
- NP_001395359.1:p.Cys44Ser
- NP_001395360.1:p.Cys44Ser
- NP_001395361.1:p.Cys44Ser
- NP_001395362.1:p.Cys44Ser
- NP_001395363.1:p.Cys44Ser
- NP_001395364.1:p.Cys44Ser
- NP_001395365.1:p.Cys44Ser
- NP_001395366.1:p.Cys44Ser
- NP_001395367.1:p.Cys44Ser
- NP_001395368.1:p.Cys44Ser
- NP_001395369.1:p.Cys44Ser
- NP_001395370.1:p.Cys44Ser
- NP_001395371.1:p.Cys44Ser
- NP_001395372.1:p.Cys44Ser
- NP_001395373.1:p.Cys44Ser
- NP_001395374.1:p.Cys44Ser
- NP_001395375.1:p.Cys44Ser
- NP_001395376.1:p.Cys44Ser
- NP_001395377.1:p.Cys44Ser
- NP_001395379.1:p.Cys44Ser
- NP_001395401.1:p.Cys44Ser
- NP_001395402.1:p.Cys44Ser
- NP_001395403.1:p.Cys44Ser
- NP_001395404.1:p.Cys44Ser
- NP_001395405.1:p.Cys44Ser
- NP_001395423.1:p.Cys44Ser
- NP_001395424.1:p.Cys44Ser
- NP_009225.1:p.Cys44Ser
- NP_009225.1:p.Cys44Ser
- NP_009229.2:p.Cys44Ser
- NP_009229.2:p.Cys44Ser
- NP_009230.2:p.Cys44Ser
- NP_009231.2:p.Cys44Ser
- NP_009235.2:p.Cys44Ser
- LRG_292t1:c.131G>C
- LRG_292:g.102255G>C
- LRG_292p1:p.Cys44Ser
- NC_000017.10:g.41267746C>G
- NC_000017.10:g.41267746C>G
- NM_007294.3:c.131G>C
- NM_007298.3:c.131G>C
- NR_027676.2:n.333G>C
This HGVS expression did not pass validation- Protein change:
- C44S
- Links:
- dbSNP: rs80357446
- NCBI 1000 Genomes Browser:
- rs80357446
- Molecular consequence:
- NM_007297.4:c.-8+8288G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.131G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.333G>C - 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>C, a MISSENSE variant, produced a function score of -2.27, 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 |
---|---|---|---|---|---|---|
SCV004306662 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Jul 25, 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
Variation of breast cancer risk among BRCA1/2 carriers.
Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL.
JAMA. 2008 Jan 9;299(2):194-201. doi: 10.1001/jama.2007.55-a.
- PMID:
- 18182601
- PMCID:
- PMC2714486
A common Greenlandic Inuit BRCA1 RING domain founder mutation.
Hansen TV, Ejlertsen B, Albrechtsen A, Bergsten E, Bjerregaard P, Hansen T, Myrhøj T, Nielsen PB, Timmermans-Wielenga V, Andersen MK, Jønson L, Nielsen FC.
Breast Cancer Res Treat. 2009 May;115(1):69-76. doi: 10.1007/s10549-008-0060-z. Epub 2008 May 26.
- PMID:
- 18500671
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV004306662.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (14) |
Description
This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 44 of the BRCA1 protein (p.Cys44Ser). 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: 18182601, 18500671, 19543972, 20104584, 35858847). ClinVar contains an entry for this variant (Variation ID: 868170). 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. 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: 16403807, 20103620, 21725363, 21922593, 21990134, 23161852, 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