NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (8 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000047597.38
Allele description [Variation Report for NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)]
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
- Other names:
- p.C61G:TGT>GGT; NP_009225.1:p.Cys61Gly
- HGVS:
- NC_000017.11:g.43106487A>C
- NG_005905.2:g.111497T>G
- NM_001407571.1:c.-8T>G
- NM_001407581.1:c.181T>G
- NM_001407582.1:c.181T>G
- NM_001407583.1:c.181T>G
- NM_001407585.1:c.181T>G
- NM_001407587.1:c.181T>G
- NM_001407590.1:c.181T>G
- NM_001407591.1:c.181T>G
- NM_001407593.1:c.181T>G
- NM_001407594.1:c.181T>G
- NM_001407596.1:c.181T>G
- NM_001407597.1:c.181T>G
- NM_001407598.1:c.181T>G
- NM_001407602.1:c.181T>G
- NM_001407603.1:c.181T>G
- NM_001407605.1:c.181T>G
- NM_001407610.1:c.181T>G
- NM_001407611.1:c.181T>G
- NM_001407612.1:c.181T>G
- NM_001407613.1:c.181T>G
- NM_001407614.1:c.181T>G
- NM_001407615.1:c.181T>G
- NM_001407616.1:c.181T>G
- NM_001407617.1:c.181T>G
- NM_001407618.1:c.181T>G
- NM_001407619.1:c.181T>G
- NM_001407620.1:c.181T>G
- NM_001407621.1:c.181T>G
- NM_001407622.1:c.181T>G
- NM_001407623.1:c.181T>G
- NM_001407624.1:c.181T>G
- NM_001407625.1:c.181T>G
- NM_001407626.1:c.181T>G
- NM_001407627.1:c.181T>G
- NM_001407628.1:c.181T>G
- NM_001407629.1:c.181T>G
- NM_001407630.1:c.181T>G
- NM_001407631.1:c.181T>G
- NM_001407632.1:c.181T>G
- NM_001407633.1:c.181T>G
- NM_001407634.1:c.181T>G
- NM_001407635.1:c.181T>G
- NM_001407636.1:c.181T>G
- NM_001407637.1:c.181T>G
- NM_001407638.1:c.181T>G
- NM_001407639.1:c.181T>G
- NM_001407640.1:c.181T>G
- NM_001407641.1:c.181T>G
- NM_001407642.1:c.181T>G
- NM_001407644.1:c.181T>G
- NM_001407645.1:c.181T>G
- NM_001407646.1:c.181T>G
- NM_001407647.1:c.181T>G
- NM_001407648.1:c.181T>G
- NM_001407649.1:c.181T>G
- NM_001407652.1:c.181T>G
- NM_001407664.1:c.181T>G
- NM_001407665.1:c.181T>G
- NM_001407666.1:c.181T>G
- NM_001407667.1:c.181T>G
- NM_001407668.1:c.181T>G
- NM_001407669.1:c.181T>G
- NM_001407670.1:c.181T>G
- NM_001407671.1:c.181T>G
- NM_001407672.1:c.181T>G
- NM_001407673.1:c.181T>G
- NM_001407674.1:c.181T>G
- NM_001407675.1:c.181T>G
- NM_001407676.1:c.181T>G
- NM_001407677.1:c.181T>G
- NM_001407678.1:c.181T>G
- NM_001407679.1:c.181T>G
- NM_001407680.1:c.181T>G
- NM_001407681.1:c.181T>G
- NM_001407682.1:c.181T>G
- NM_001407683.1:c.181T>G
- NM_001407684.1:c.181T>G
- NM_001407685.1:c.181T>G
- NM_001407686.1:c.181T>G
- NM_001407687.1:c.181T>G
- NM_001407688.1:c.181T>G
- NM_001407689.1:c.181T>G
- NM_001407690.1:c.181T>G
- NM_001407691.1:c.181T>G
- NM_001407692.1:c.40T>G
- NM_001407694.1:c.40T>G
- NM_001407695.1:c.40T>G
- NM_001407696.1:c.40T>G
- NM_001407697.1:c.40T>G
- NM_001407698.1:c.40T>G
- NM_001407724.1:c.40T>G
- NM_001407725.1:c.40T>G
- NM_001407726.1:c.40T>G
- NM_001407727.1:c.40T>G
- NM_001407728.1:c.40T>G
- NM_001407729.1:c.40T>G
- NM_001407730.1:c.40T>G
- NM_001407731.1:c.40T>G
- NM_001407732.1:c.40T>G
- NM_001407733.1:c.40T>G
- NM_001407734.1:c.40T>G
- NM_001407735.1:c.40T>G
- NM_001407736.1:c.40T>G
- NM_001407737.1:c.40T>G
- NM_001407738.1:c.40T>G
- NM_001407739.1:c.40T>G
- NM_001407740.1:c.40T>G
- NM_001407741.1:c.40T>G
- NM_001407742.1:c.40T>G
- NM_001407743.1:c.40T>G
- NM_001407744.1:c.40T>G
- NM_001407745.1:c.40T>G
- NM_001407746.1:c.40T>G
- NM_001407747.1:c.40T>G
- NM_001407748.1:c.40T>G
- NM_001407749.1:c.40T>G
- NM_001407750.1:c.40T>G
- NM_001407751.1:c.40T>G
- NM_001407752.1:c.40T>G
- NM_001407838.1:c.40T>G
- NM_001407839.1:c.40T>G
- NM_001407841.1:c.40T>G
- NM_001407842.1:c.40T>G
- NM_001407843.1:c.40T>G
- NM_001407844.1:c.40T>G
- NM_001407845.1:c.40T>G
- NM_001407846.1:c.40T>G
- NM_001407847.1:c.40T>G
- NM_001407848.1:c.40T>G
- NM_001407849.1:c.40T>G
- NM_001407850.1:c.40T>G
- NM_001407851.1:c.40T>G
- NM_001407852.1:c.40T>G
- NM_001407853.1:c.-8T>G
- NM_001407854.1:c.181T>G
- NM_001407858.1:c.181T>G
- NM_001407859.1:c.181T>G
- NM_001407860.1:c.181T>G
- NM_001407861.1:c.181T>G
- NM_001407863.1:c.181T>G
- NM_001407879.1:c.-8T>G
- NM_001407881.1:c.-8T>G
- NM_001407882.1:c.-8T>G
- NM_001407884.1:c.-8T>G
- NM_001407885.1:c.-8T>G
- NM_001407886.1:c.-8T>G
- NM_001407887.1:c.-8T>G
- NM_001407889.1:c.-8T>G
- NM_001407894.1:c.-8T>G
- NM_001407895.1:c.-8T>G
- NM_001407896.1:c.-8T>G
- NM_001407897.1:c.-8T>G
- NM_001407898.1:c.-8T>G
- NM_001407899.1:c.-8T>G
- NM_001407900.1:c.-8T>G
- NM_001407902.1:c.-8T>G
- NM_001407904.1:c.-8T>G
- NM_001407906.1:c.-8T>G
- NM_001407907.1:c.-8T>G
- NM_001407908.1:c.-8T>G
- NM_001407909.1:c.-8T>G
- NM_001407910.1:c.-8T>G
- NM_001407915.1:c.-8T>G
- NM_001407916.1:c.-8T>G
- NM_001407917.1:c.-8T>G
- NM_001407918.1:c.-8T>G
- NM_001407919.1:c.181T>G
- NM_001407920.1:c.40T>G
- NM_001407921.1:c.40T>G
- NM_001407922.1:c.40T>G
- NM_001407923.1:c.40T>G
- NM_001407924.1:c.40T>G
- NM_001407925.1:c.40T>G
- NM_001407926.1:c.40T>G
- NM_001407927.1:c.40T>G
- NM_001407928.1:c.40T>G
- NM_001407929.1:c.40T>G
- NM_001407930.1:c.40T>G
- NM_001407931.1:c.40T>G
- NM_001407932.1:c.40T>G
- NM_001407933.1:c.40T>G
- NM_001407934.1:c.40T>G
- NM_001407935.1:c.40T>G
- NM_001407936.1:c.40T>G
- NM_001407937.1:c.181T>G
- NM_001407938.1:c.181T>G
- NM_001407939.1:c.181T>G
- NM_001407940.1:c.181T>G
- NM_001407941.1:c.181T>G
- NM_001407942.1:c.40T>G
- NM_001407943.1:c.40T>G
- NM_001407944.1:c.40T>G
- NM_001407945.1:c.40T>G
- NM_001407946.1:c.-8T>G
- NM_001407947.1:c.-8T>G
- NM_001407948.1:c.-8T>G
- NM_001407949.1:c.-8T>G
- NM_001407950.1:c.-8T>G
- NM_001407951.1:c.-8T>G
- NM_001407952.1:c.-8T>G
- NM_001407953.1:c.-8T>G
- NM_001407954.1:c.-8T>G
- NM_001407955.1:c.-8T>G
- NM_001407956.1:c.-8T>G
- NM_001407957.1:c.-8T>G
- NM_001407958.1:c.-8T>G
- NM_001407964.1:c.40T>G
- NM_001407968.1:c.181T>G
- NM_001407969.1:c.181T>G
- NM_001407970.1:c.181T>G
- NM_001407971.1:c.181T>G
- NM_001407972.1:c.181T>G
- NM_001407973.1:c.181T>G
- NM_001407974.1:c.181T>G
- NM_001407975.1:c.181T>G
- NM_001407976.1:c.181T>G
- NM_001407977.1:c.181T>G
- NM_001407978.1:c.181T>G
- NM_001407979.1:c.181T>G
- NM_001407980.1:c.181T>G
- NM_001407981.1:c.181T>G
- NM_001407982.1:c.181T>G
- NM_001407983.1:c.181T>G
- NM_001407984.1:c.181T>G
- NM_001407985.1:c.181T>G
- NM_001407986.1:c.181T>G
- NM_001407990.1:c.181T>G
- NM_001407991.1:c.181T>G
- NM_001407992.1:c.181T>G
- NM_001407993.1:c.181T>G
- NM_001408392.1:c.181T>G
- NM_001408396.1:c.181T>G
- NM_001408397.1:c.181T>G
- NM_001408398.1:c.181T>G
- NM_001408399.1:c.181T>G
- NM_001408400.1:c.181T>G
- NM_001408401.1:c.181T>G
- NM_001408402.1:c.181T>G
- NM_001408403.1:c.181T>G
- NM_001408404.1:c.181T>G
- NM_001408406.1:c.181T>G
- NM_001408407.1:c.181T>G
- NM_001408408.1:c.181T>G
- NM_001408410.1:c.40T>G
- NM_001408418.1:c.181T>G
- NM_001408419.1:c.181T>G
- NM_001408420.1:c.181T>G
- NM_001408421.1:c.181T>G
- NM_001408422.1:c.181T>G
- NM_001408423.1:c.181T>G
- NM_001408424.1:c.181T>G
- NM_001408425.1:c.181T>G
- NM_001408426.1:c.181T>G
- NM_001408427.1:c.181T>G
- NM_001408428.1:c.181T>G
- NM_001408429.1:c.181T>G
- NM_001408430.1:c.181T>G
- NM_001408431.1:c.181T>G
- NM_001408432.1:c.181T>G
- NM_001408433.1:c.181T>G
- NM_001408434.1:c.181T>G
- NM_001408435.1:c.181T>G
- NM_001408436.1:c.181T>G
- NM_001408437.1:c.181T>G
- NM_001408438.1:c.181T>G
- NM_001408439.1:c.181T>G
- NM_001408440.1:c.181T>G
- NM_001408441.1:c.181T>G
- NM_001408442.1:c.181T>G
- NM_001408443.1:c.181T>G
- NM_001408444.1:c.181T>G
- NM_001408445.1:c.181T>G
- NM_001408446.1:c.181T>G
- NM_001408447.1:c.181T>G
- NM_001408448.1:c.181T>G
- NM_001408450.1:c.181T>G
- NM_001408452.1:c.40T>G
- NM_001408453.1:c.40T>G
- NM_001408454.1:c.40T>G
- NM_001408455.1:c.40T>G
- NM_001408456.1:c.40T>G
- NM_001408457.1:c.40T>G
- NM_001408458.1:c.40T>G
- NM_001408459.1:c.40T>G
- NM_001408460.1:c.40T>G
- NM_001408461.1:c.40T>G
- NM_001408462.1:c.40T>G
- NM_001408463.1:c.40T>G
- NM_001408464.1:c.40T>G
- NM_001408465.1:c.40T>G
- NM_001408466.1:c.40T>G
- NM_001408467.1:c.40T>G
- NM_001408468.1:c.40T>G
- NM_001408469.1:c.40T>G
- NM_001408470.1:c.40T>G
- NM_001408472.1:c.181T>G
- NM_001408473.1:c.181T>G
- NM_001408478.1:c.-8T>G
- NM_001408479.1:c.-8T>G
- NM_001408480.1:c.-8T>G
- NM_001408481.1:c.-8T>G
- NM_001408482.1:c.-8T>G
- NM_001408483.1:c.-8T>G
- NM_001408484.1:c.-8T>G
- NM_001408485.1:c.-8T>G
- NM_001408489.1:c.-8T>G
- NM_001408490.1:c.-8T>G
- NM_001408491.1:c.-8T>G
- NM_001408492.1:c.-8T>G
- NM_001408493.1:c.-8T>G
- NM_001408494.1:c.181T>G
- NM_001408495.1:c.181T>G
- NM_001408496.1:c.40T>G
- NM_001408497.1:c.40T>G
- NM_001408498.1:c.40T>G
- NM_001408499.1:c.40T>G
- NM_001408500.1:c.40T>G
- NM_001408501.1:c.40T>G
- NM_001408502.1:c.-8T>G
- NM_001408503.1:c.40T>G
- NM_001408504.1:c.40T>G
- NM_001408505.1:c.40T>G
- NM_001408506.1:c.-8T>G
- NM_001408507.1:c.-8T>G
- NM_001408508.1:c.-8T>G
- NM_001408509.1:c.-8T>G
- NM_001408511.1:c.40T>G
- NM_001408513.1:c.-8T>G
- NM_001408514.1:c.-8T>G
- NM_007294.4:c.181T>GMANE SELECT
- NM_007297.4:c.40T>G
- NM_007298.4:c.181T>G
- NM_007299.4:c.181T>G
- NM_007300.4:c.181T>G
- NM_007304.2:c.181T>G
- NP_001394510.1:p.Cys61Gly
- NP_001394511.1:p.Cys61Gly
- NP_001394512.1:p.Cys61Gly
- NP_001394514.1:p.Cys61Gly
- NP_001394516.1:p.Cys61Gly
- NP_001394519.1:p.Cys61Gly
- NP_001394520.1:p.Cys61Gly
- NP_001394522.1:p.Cys61Gly
- NP_001394523.1:p.Cys61Gly
- NP_001394525.1:p.Cys61Gly
- NP_001394526.1:p.Cys61Gly
- NP_001394527.1:p.Cys61Gly
- NP_001394531.1:p.Cys61Gly
- NP_001394532.1:p.Cys61Gly
- NP_001394534.1:p.Cys61Gly
- NP_001394539.1:p.Cys61Gly
- NP_001394540.1:p.Cys61Gly
- NP_001394541.1:p.Cys61Gly
- NP_001394542.1:p.Cys61Gly
- NP_001394543.1:p.Cys61Gly
- NP_001394544.1:p.Cys61Gly
- NP_001394545.1:p.Cys61Gly
- NP_001394546.1:p.Cys61Gly
- NP_001394547.1:p.Cys61Gly
- NP_001394548.1:p.Cys61Gly
- NP_001394549.1:p.Cys61Gly
- NP_001394550.1:p.Cys61Gly
- NP_001394551.1:p.Cys61Gly
- NP_001394552.1:p.Cys61Gly
- NP_001394553.1:p.Cys61Gly
- NP_001394554.1:p.Cys61Gly
- NP_001394555.1:p.Cys61Gly
- NP_001394556.1:p.Cys61Gly
- NP_001394557.1:p.Cys61Gly
- NP_001394558.1:p.Cys61Gly
- NP_001394559.1:p.Cys61Gly
- NP_001394560.1:p.Cys61Gly
- NP_001394561.1:p.Cys61Gly
- NP_001394562.1:p.Cys61Gly
- NP_001394563.1:p.Cys61Gly
- NP_001394564.1:p.Cys61Gly
- NP_001394565.1:p.Cys61Gly
- NP_001394566.1:p.Cys61Gly
- NP_001394567.1:p.Cys61Gly
- NP_001394568.1:p.Cys61Gly
- NP_001394569.1:p.Cys61Gly
- NP_001394570.1:p.Cys61Gly
- NP_001394571.1:p.Cys61Gly
- NP_001394573.1:p.Cys61Gly
- NP_001394574.1:p.Cys61Gly
- NP_001394575.1:p.Cys61Gly
- NP_001394576.1:p.Cys61Gly
- NP_001394577.1:p.Cys61Gly
- NP_001394578.1:p.Cys61Gly
- NP_001394581.1:p.Cys61Gly
- NP_001394593.1:p.Cys61Gly
- NP_001394594.1:p.Cys61Gly
- NP_001394595.1:p.Cys61Gly
- NP_001394596.1:p.Cys61Gly
- NP_001394597.1:p.Cys61Gly
- NP_001394598.1:p.Cys61Gly
- NP_001394599.1:p.Cys61Gly
- NP_001394600.1:p.Cys61Gly
- NP_001394601.1:p.Cys61Gly
- NP_001394602.1:p.Cys61Gly
- NP_001394603.1:p.Cys61Gly
- NP_001394604.1:p.Cys61Gly
- NP_001394605.1:p.Cys61Gly
- NP_001394606.1:p.Cys61Gly
- NP_001394607.1:p.Cys61Gly
- NP_001394608.1:p.Cys61Gly
- NP_001394609.1:p.Cys61Gly
- NP_001394610.1:p.Cys61Gly
- NP_001394611.1:p.Cys61Gly
- NP_001394612.1:p.Cys61Gly
- NP_001394613.1:p.Cys61Gly
- NP_001394614.1:p.Cys61Gly
- NP_001394615.1:p.Cys61Gly
- NP_001394616.1:p.Cys61Gly
- NP_001394617.1:p.Cys61Gly
- NP_001394618.1:p.Cys61Gly
- NP_001394619.1:p.Cys61Gly
- NP_001394620.1:p.Cys61Gly
- NP_001394621.1:p.Cys14Gly
- NP_001394623.1:p.Cys14Gly
- NP_001394624.1:p.Cys14Gly
- NP_001394625.1:p.Cys14Gly
- NP_001394626.1:p.Cys14Gly
- NP_001394627.1:p.Cys14Gly
- NP_001394653.1:p.Cys14Gly
- NP_001394654.1:p.Cys14Gly
- NP_001394655.1:p.Cys14Gly
- NP_001394656.1:p.Cys14Gly
- NP_001394657.1:p.Cys14Gly
- NP_001394658.1:p.Cys14Gly
- NP_001394659.1:p.Cys14Gly
- NP_001394660.1:p.Cys14Gly
- NP_001394661.1:p.Cys14Gly
- NP_001394662.1:p.Cys14Gly
- NP_001394663.1:p.Cys14Gly
- NP_001394664.1:p.Cys14Gly
- NP_001394665.1:p.Cys14Gly
- NP_001394666.1:p.Cys14Gly
- NP_001394667.1:p.Cys14Gly
- NP_001394668.1:p.Cys14Gly
- NP_001394669.1:p.Cys14Gly
- NP_001394670.1:p.Cys14Gly
- NP_001394671.1:p.Cys14Gly
- NP_001394672.1:p.Cys14Gly
- NP_001394673.1:p.Cys14Gly
- NP_001394674.1:p.Cys14Gly
- NP_001394675.1:p.Cys14Gly
- NP_001394676.1:p.Cys14Gly
- NP_001394677.1:p.Cys14Gly
- NP_001394678.1:p.Cys14Gly
- NP_001394679.1:p.Cys14Gly
- NP_001394680.1:p.Cys14Gly
- NP_001394681.1:p.Cys14Gly
- NP_001394767.1:p.Cys14Gly
- NP_001394768.1:p.Cys14Gly
- NP_001394770.1:p.Cys14Gly
- NP_001394771.1:p.Cys14Gly
- NP_001394772.1:p.Cys14Gly
- NP_001394773.1:p.Cys14Gly
- NP_001394774.1:p.Cys14Gly
- NP_001394775.1:p.Cys14Gly
- NP_001394776.1:p.Cys14Gly
- NP_001394777.1:p.Cys14Gly
- NP_001394778.1:p.Cys14Gly
- NP_001394779.1:p.Cys14Gly
- NP_001394780.1:p.Cys14Gly
- NP_001394781.1:p.Cys14Gly
- NP_001394783.1:p.Cys61Gly
- NP_001394787.1:p.Cys61Gly
- NP_001394788.1:p.Cys61Gly
- NP_001394789.1:p.Cys61Gly
- NP_001394790.1:p.Cys61Gly
- NP_001394792.1:p.Cys61Gly
- NP_001394848.1:p.Cys61Gly
- NP_001394849.1:p.Cys14Gly
- NP_001394850.1:p.Cys14Gly
- NP_001394851.1:p.Cys14Gly
- NP_001394852.1:p.Cys14Gly
- NP_001394853.1:p.Cys14Gly
- NP_001394854.1:p.Cys14Gly
- NP_001394855.1:p.Cys14Gly
- NP_001394856.1:p.Cys14Gly
- NP_001394857.1:p.Cys14Gly
- NP_001394858.1:p.Cys14Gly
- NP_001394859.1:p.Cys14Gly
- NP_001394860.1:p.Cys14Gly
- NP_001394861.1:p.Cys14Gly
- NP_001394862.1:p.Cys14Gly
- NP_001394863.1:p.Cys14Gly
- NP_001394864.1:p.Cys14Gly
- NP_001394865.1:p.Cys14Gly
- NP_001394866.1:p.Cys61Gly
- NP_001394867.1:p.Cys61Gly
- NP_001394868.1:p.Cys61Gly
- NP_001394869.1:p.Cys61Gly
- NP_001394870.1:p.Cys61Gly
- NP_001394871.1:p.Cys14Gly
- NP_001394872.1:p.Cys14Gly
- NP_001394873.1:p.Cys14Gly
- NP_001394874.1:p.Cys14Gly
- NP_001394893.1:p.Cys14Gly
- NP_001394897.1:p.Cys61Gly
- NP_001394898.1:p.Cys61Gly
- NP_001394899.1:p.Cys61Gly
- NP_001394900.1:p.Cys61Gly
- NP_001394901.1:p.Cys61Gly
- NP_001394902.1:p.Cys61Gly
- NP_001394903.1:p.Cys61Gly
- NP_001394904.1:p.Cys61Gly
- NP_001394905.1:p.Cys61Gly
- NP_001394906.1:p.Cys61Gly
- NP_001394907.1:p.Cys61Gly
- NP_001394908.1:p.Cys61Gly
- NP_001394909.1:p.Cys61Gly
- NP_001394910.1:p.Cys61Gly
- NP_001394911.1:p.Cys61Gly
- NP_001394912.1:p.Cys61Gly
- NP_001394913.1:p.Cys61Gly
- NP_001394914.1:p.Cys61Gly
- NP_001394915.1:p.Cys61Gly
- NP_001394919.1:p.Cys61Gly
- NP_001394920.1:p.Cys61Gly
- NP_001394921.1:p.Cys61Gly
- NP_001394922.1:p.Cys61Gly
- NP_001395321.1:p.Cys61Gly
- NP_001395325.1:p.Cys61Gly
- NP_001395326.1:p.Cys61Gly
- NP_001395327.1:p.Cys61Gly
- NP_001395328.1:p.Cys61Gly
- NP_001395329.1:p.Cys61Gly
- NP_001395330.1:p.Cys61Gly
- NP_001395331.1:p.Cys61Gly
- NP_001395332.1:p.Cys61Gly
- NP_001395333.1:p.Cys61Gly
- NP_001395335.1:p.Cys61Gly
- NP_001395336.1:p.Cys61Gly
- NP_001395337.1:p.Cys61Gly
- NP_001395339.1:p.Cys14Gly
- NP_001395347.1:p.Cys61Gly
- NP_001395348.1:p.Cys61Gly
- NP_001395349.1:p.Cys61Gly
- NP_001395350.1:p.Cys61Gly
- NP_001395351.1:p.Cys61Gly
- NP_001395352.1:p.Cys61Gly
- NP_001395353.1:p.Cys61Gly
- NP_001395354.1:p.Cys61Gly
- NP_001395355.1:p.Cys61Gly
- NP_001395356.1:p.Cys61Gly
- NP_001395357.1:p.Cys61Gly
- NP_001395358.1:p.Cys61Gly
- NP_001395359.1:p.Cys61Gly
- NP_001395360.1:p.Cys61Gly
- NP_001395361.1:p.Cys61Gly
- NP_001395362.1:p.Cys61Gly
- NP_001395363.1:p.Cys61Gly
- NP_001395364.1:p.Cys61Gly
- NP_001395365.1:p.Cys61Gly
- NP_001395366.1:p.Cys61Gly
- NP_001395367.1:p.Cys61Gly
- NP_001395368.1:p.Cys61Gly
- NP_001395369.1:p.Cys61Gly
- NP_001395370.1:p.Cys61Gly
- NP_001395371.1:p.Cys61Gly
- NP_001395372.1:p.Cys61Gly
- NP_001395373.1:p.Cys61Gly
- NP_001395374.1:p.Cys61Gly
- NP_001395375.1:p.Cys61Gly
- NP_001395376.1:p.Cys61Gly
- NP_001395377.1:p.Cys61Gly
- NP_001395379.1:p.Cys61Gly
- NP_001395381.1:p.Cys14Gly
- NP_001395382.1:p.Cys14Gly
- NP_001395383.1:p.Cys14Gly
- NP_001395384.1:p.Cys14Gly
- NP_001395385.1:p.Cys14Gly
- NP_001395386.1:p.Cys14Gly
- NP_001395387.1:p.Cys14Gly
- NP_001395388.1:p.Cys14Gly
- NP_001395389.1:p.Cys14Gly
- NP_001395390.1:p.Cys14Gly
- NP_001395391.1:p.Cys14Gly
- NP_001395392.1:p.Cys14Gly
- NP_001395393.1:p.Cys14Gly
- NP_001395394.1:p.Cys14Gly
- NP_001395395.1:p.Cys14Gly
- NP_001395396.1:p.Cys14Gly
- NP_001395397.1:p.Cys14Gly
- NP_001395398.1:p.Cys14Gly
- NP_001395399.1:p.Cys14Gly
- NP_001395401.1:p.Cys61Gly
- NP_001395402.1:p.Cys61Gly
- NP_001395423.1:p.Cys61Gly
- NP_001395424.1:p.Cys61Gly
- NP_001395425.1:p.Cys14Gly
- NP_001395426.1:p.Cys14Gly
- NP_001395427.1:p.Cys14Gly
- NP_001395428.1:p.Cys14Gly
- NP_001395429.1:p.Cys14Gly
- NP_001395430.1:p.Cys14Gly
- NP_001395432.1:p.Cys14Gly
- NP_001395433.1:p.Cys14Gly
- NP_001395434.1:p.Cys14Gly
- NP_001395440.1:p.Cys14Gly
- NP_009225.1:p.Cys61Gly
- NP_009225.1:p.Cys61Gly
- NP_009228.2:p.Cys14Gly
- NP_009229.2:p.Cys61Gly
- NP_009229.2:p.Cys61Gly
- NP_009230.2:p.Cys61Gly
- NP_009231.2:p.Cys61Gly
- NP_009235.2:p.Cys61Gly
- LRG_292t1:c.181T>G
- LRG_292:g.111497T>G
- LRG_292p1:p.Cys61Gly
- NC_000017.10:g.41258504A>C
- NM_007294.3:c.181T>G
- NM_007298.3:c.181T>G
- NM_007299.3:c.181T>G
- NM_007300.3:c.181T>G
- NR_027676.2:n.383T>G
- P38398:p.Cys61Gly
- U14680.1:n.300T>G
- p.C61G
This HGVS expression did not pass validation- Nucleotide change:
- 300T>G
- Protein change:
- C14G; CYS61GLY
- Links:
- BRCA1-HCI: BRCA1_00099; UniProtKB: P38398#VAR_007757; OMIM: 113705.0002; dbSNP: rs28897672
- NCBI 1000 Genomes Browser:
- rs28897672
- Molecular consequence:
- NM_001407581.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.40T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.181T>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.383T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.181T>G, a MISSENSE variant, produced a function score of -1.74, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘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.
- variation affecting protein function [Variation Ontology: 0003]
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- Observations:
- 1
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 |
---|---|---|---|---|---|---|
SCV000075610 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Jan 31, 2024) | germline | clinical testing | |
SCV000271313 | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | criteria provided, single submitter (LMM Criteria) | Pathogenic (Jan 31, 2019) | germline | clinical testing | |
SCV000587024 | Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR) | no assertion criteria provided | Pathogenic (Jan 31, 2014) | germline | research | |
SCV000588026 | Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR) | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Apr 20, 2017) | germline | clinical testing | |
SCV000698888 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Aug 24, 2017) | germline | clinical testing | PubMed (7) LabCorp Variant Classification Summary - May 2015.docx, |
SCV001749337 | GenomeConnect - Invitae Patient Insights Network | no classification provided | not provided | unknown | phenotyping only | |
SCV002026038 | National Health Laboratory Service, Universitas Academic Hospital and University of the Free State | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 16, 2021) | germline | clinical testing | |
SCV002104292 | University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing, research |
not provided | germline | unknown | 1 | 1 | not provided | not provided | not provided | clinical testing |
Caucasians MedGen:C0043157 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | phenotyping only |
Citations
PubMed
Domchek SM, Friebel TM, Garber JE, Isaacs C, Matloff E, Eeles R, Evans DG, Rubinstein W, Singer CF, Rubin S, Lynch HT, Daly MB, Weitzel J, Ganz PA, Pichert G, Olopade OI, Tomlinson G, Tung N, Blum JL, Couch F, Rebbeck TR.
Breast Cancer Res Treat. 2010 Nov;124(1):195-203. doi: 10.1007/s10549-010-0799-x. Epub 2010 Feb 24.
- PMID:
- 20180014
- PMCID:
- PMC2949487
Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals.
Kaufman B, Laitman Y, Gronwald J, Lubinski J, Friedman E.
Genet Test Mol Biomarkers. 2009 Aug;13(4):465-9. doi: 10.1089/gtmb.2009.0001.
- PMID:
- 19594371
Details of each submission
From Invitae, SCV000075610.17
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (16) |
Description
This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 61 of the BRCA1 protein (p.Cys61Gly). This variant is present in population databases (rs28897672, gnomAD 0.006%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 7894493, 10788334, 20180014, 21324516). It is commonly reported in individuals of Eastern European ancestry (PMID: 19594371, 20345474, 20507347, 20569256). This variant is also known as 300T>G. ClinVar contains an entry for this variant (Variation ID: 17661). 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: 9525870, 11278247, 22172724, 22843421, 23161852, 23867111). For these reasons, this variant has been classified as Pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271313.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (9) |
Description
The p.Cys61Gly variant in BRCA1 has been identified in >300 individuals with BRCA1-associated cancers and has segregated with disease in multiple families, including one male with breast cancer (Friedman 1994, Gorski 1999, Cherbal 2010, Bogdanova 2010, Breast Cancer Information Core database, www.research.nhgri.nih.gov/bic/). This variant has been identified in 8/65364 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28897672). Please note this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. In vitro functional studies have shown that the p.Cys61Gly variant disrupts protein function and produces drug-resistant tumors in mouse models (Brzvoic 1998 and Drost 2011). In summary, this variant meets our criteria to be classified as pathogenic for HBOC in an autosomal dominant manner based upon segregation studies, presence in affected individuals, low frequency in controls, and functional evidence. The ACMG/AMP criteria applied: PS4, PS3_M, PP1_M, PM2_P.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | 1 | not provided | 1 | not provided |
From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587024.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR), SCV000588026.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698888.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (7) |
Description
Variant summary: The BRCA1 c.181T>G (p.Cys61Gly) variant involves the alteration of a conserved nucleotide that leads to the alteration of an amino acid residue in the RING domain of BRCA1 protein (InterPro). 4/5 in silico tools predict a damaging outcome for this variant and several functional studies demonstrated the Cys61Gly mutation affects several functional properties of the BRCA1 NH2-terminal domain (e.g. Brzovic 1998, 2003). This variant was found in 8/119006 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000122 (8/65364). This frequency is smaller than the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). This is a well established disease variant that was reported in multiple patients with HBOC (e.g. Friedman 1994, Gorski 2000, Thorstenson 2003, Bogdanova 2010). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From GenomeConnect - Invitae Patient Insights Network, SCV001749337.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Caucasians MedGen:C0043157 | not provided | not provided | not provided | phenotyping only | not provided |
Description
Variant interpreted as Pathogenic and reported on 08-22-2015 by Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | validation | not provided | not provided | not provided | not provided |
From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002026038.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 2 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided |
From University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM), SCV002104292.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | 1 | not provided | not provided | clinical testing | PubMed (3) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Apr 15, 2024