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 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: 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

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: â€˜functionalâ€™, score > -0.748; â€˜intermediateâ€™, -0.748 > score > -1.328; â€˜non-functionalâ€™, 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]

Observations:

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

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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	PubMed (16) [See all records that cite these PMIDs] 7894493, 10788334, 20180014, 21324516, 19594371, 20345474, 20507347, 20569256, 30209399, 9525870, 11278247, 22172724, 22843421, 23161852, 23867111, 28492532
SCV000271313	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Jan 31, 2019)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 7894493, 22172724, 21324516, 9525870, 16168118, 10788334, 20683152, 20569256, 24033266
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	PubMed (1) [See all records that cite this PMID]
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) [See all records that cite these PMIDs] 7795652, 7894493, 20569256, 12732733, 10788334, 12810666, 9525870 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
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	PubMed (1) [See all records that cite this PMID]
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	PubMed (3) [See all records that cite these PMIDs] 28478614, 20683152, 25741868

Help

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

Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers.

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.

PubMed [citation]

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.

PubMed [citation]

PMID:: 19594371

See all PubMed Citations (24)

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

Relating variation to medicine