NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (7 submissions)
Last evaluated:: Apr 22, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000031018.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)]

NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)

Other names:

2080_2081insA

HGVS:

NC_000017.11:g.43093577dup
NG_005905.2:g.124414dup
NM_001407571.1:c.1748dup
NM_001407581.1:c.1961dup
NM_001407582.1:c.1961dup
NM_001407583.1:c.1961dup
NM_001407585.1:c.1961dup
NM_001407587.1:c.1958dup
NM_001407590.1:c.1958dup
NM_001407591.1:c.1958dup
NM_001407593.1:c.1961dup
NM_001407594.1:c.1961dup
NM_001407596.1:c.1961dup
NM_001407597.1:c.1961dup
NM_001407598.1:c.1961dup
NM_001407602.1:c.1961dup
NM_001407603.1:c.1961dup
NM_001407605.1:c.1961dup
NM_001407610.1:c.1958dup
NM_001407611.1:c.1958dup
NM_001407612.1:c.1958dup
NM_001407613.1:c.1958dup
NM_001407614.1:c.1958dup
NM_001407615.1:c.1958dup
NM_001407616.1:c.1961dup
NM_001407617.1:c.1961dup
NM_001407618.1:c.1961dup
NM_001407619.1:c.1961dup
NM_001407620.1:c.1961dup
NM_001407621.1:c.1961dup
NM_001407622.1:c.1961dup
NM_001407623.1:c.1961dup
NM_001407624.1:c.1961dup
NM_001407625.1:c.1961dup
NM_001407626.1:c.1961dup
NM_001407627.1:c.1958dup
NM_001407628.1:c.1958dup
NM_001407629.1:c.1958dup
NM_001407630.1:c.1958dup
NM_001407631.1:c.1958dup
NM_001407632.1:c.1958dup
NM_001407633.1:c.1958dup
NM_001407634.1:c.1958dup
NM_001407635.1:c.1958dup
NM_001407636.1:c.1958dup
NM_001407637.1:c.1958dup
NM_001407638.1:c.1958dup
NM_001407639.1:c.1961dup
NM_001407640.1:c.1961dup
NM_001407641.1:c.1961dup
NM_001407642.1:c.1961dup
NM_001407644.1:c.1958dup
NM_001407645.1:c.1958dup
NM_001407646.1:c.1952dup
NM_001407647.1:c.1952dup
NM_001407648.1:c.1838dup
NM_001407649.1:c.1835dup
NM_001407652.1:c.1961dup
NM_001407653.1:c.1883dup
NM_001407654.1:c.1883dup
NM_001407655.1:c.1883dup
NM_001407656.1:c.1883dup
NM_001407657.1:c.1883dup
NM_001407658.1:c.1883dup
NM_001407659.1:c.1880dup
NM_001407660.1:c.1880dup
NM_001407661.1:c.1880dup
NM_001407662.1:c.1880dup
NM_001407663.1:c.1883dup
NM_001407664.1:c.1838dup
NM_001407665.1:c.1838dup
NM_001407666.1:c.1838dup
NM_001407667.1:c.1838dup
NM_001407668.1:c.1838dup
NM_001407669.1:c.1838dup
NM_001407670.1:c.1835dup
NM_001407671.1:c.1835dup
NM_001407672.1:c.1835dup
NM_001407673.1:c.1835dup
NM_001407674.1:c.1838dup
NM_001407675.1:c.1838dup
NM_001407676.1:c.1838dup
NM_001407677.1:c.1838dup
NM_001407678.1:c.1838dup
NM_001407679.1:c.1838dup
NM_001407680.1:c.1838dup
NM_001407681.1:c.1838dup
NM_001407682.1:c.1838dup
NM_001407683.1:c.1838dup
NM_001407684.1:c.1961dup
NM_001407685.1:c.1835dup
NM_001407686.1:c.1835dup
NM_001407687.1:c.1835dup
NM_001407688.1:c.1835dup
NM_001407689.1:c.1835dup
NM_001407690.1:c.1835dup
NM_001407691.1:c.1835dup
NM_001407692.1:c.1820dup
NM_001407694.1:c.1820dup
NM_001407695.1:c.1820dup
NM_001407696.1:c.1820dup
NM_001407697.1:c.1820dup
NM_001407698.1:c.1820dup
NM_001407724.1:c.1820dup
NM_001407725.1:c.1820dup
NM_001407726.1:c.1820dup
NM_001407727.1:c.1820dup
NM_001407728.1:c.1820dup
NM_001407729.1:c.1820dup
NM_001407730.1:c.1820dup
NM_001407731.1:c.1820dup
NM_001407732.1:c.1820dup
NM_001407733.1:c.1820dup
NM_001407734.1:c.1820dup
NM_001407735.1:c.1820dup
NM_001407736.1:c.1820dup
NM_001407737.1:c.1820dup
NM_001407738.1:c.1820dup
NM_001407739.1:c.1820dup
NM_001407740.1:c.1817dup
NM_001407741.1:c.1817dup
NM_001407742.1:c.1817dup
NM_001407743.1:c.1817dup
NM_001407744.1:c.1817dup
NM_001407745.1:c.1817dup
NM_001407746.1:c.1817dup
NM_001407747.1:c.1817dup
NM_001407748.1:c.1817dup
NM_001407749.1:c.1817dup
NM_001407750.1:c.1820dup
NM_001407751.1:c.1820dup
NM_001407752.1:c.1820dup
NM_001407838.1:c.1817dup
NM_001407839.1:c.1817dup
NM_001407841.1:c.1817dup
NM_001407842.1:c.1817dup
NM_001407843.1:c.1817dup
NM_001407844.1:c.1817dup
NM_001407845.1:c.1817dup
NM_001407846.1:c.1817dup
NM_001407847.1:c.1817dup
NM_001407848.1:c.1817dup
NM_001407849.1:c.1817dup
NM_001407850.1:c.1820dup
NM_001407851.1:c.1820dup
NM_001407852.1:c.1820dup
NM_001407853.1:c.1748dup
NM_001407854.1:c.1961dup
NM_001407858.1:c.1961dup
NM_001407859.1:c.1961dup
NM_001407860.1:c.1958dup
NM_001407861.1:c.1958dup
NM_001407862.1:c.1760dup
NM_001407863.1:c.1838dup
NM_001407874.1:c.1757dup
NM_001407875.1:c.1757dup
NM_001407879.1:c.1751dup
NM_001407881.1:c.1751dup
NM_001407882.1:c.1751dup
NM_001407884.1:c.1751dup
NM_001407885.1:c.1751dup
NM_001407886.1:c.1751dup
NM_001407887.1:c.1751dup
NM_001407889.1:c.1751dup
NM_001407894.1:c.1748dup
NM_001407895.1:c.1748dup
NM_001407896.1:c.1748dup
NM_001407897.1:c.1748dup
NM_001407898.1:c.1748dup
NM_001407899.1:c.1748dup
NM_001407900.1:c.1751dup
NM_001407902.1:c.1751dup
NM_001407904.1:c.1751dup
NM_001407906.1:c.1751dup
NM_001407907.1:c.1751dup
NM_001407908.1:c.1751dup
NM_001407909.1:c.1751dup
NM_001407910.1:c.1751dup
NM_001407915.1:c.1748dup
NM_001407916.1:c.1748dup
NM_001407917.1:c.1748dup
NM_001407918.1:c.1748dup
NM_001407919.1:c.1838dup
NM_001407920.1:c.1697dup
NM_001407921.1:c.1697dup
NM_001407922.1:c.1697dup
NM_001407923.1:c.1697dup
NM_001407924.1:c.1697dup
NM_001407925.1:c.1697dup
NM_001407926.1:c.1697dup
NM_001407927.1:c.1697dup
NM_001407928.1:c.1697dup
NM_001407929.1:c.1697dup
NM_001407930.1:c.1694dup
NM_001407931.1:c.1694dup
NM_001407932.1:c.1694dup
NM_001407933.1:c.1697dup
NM_001407934.1:c.1694dup
NM_001407935.1:c.1697dup
NM_001407936.1:c.1694dup
NM_001407937.1:c.1838dup
NM_001407938.1:c.1838dup
NM_001407939.1:c.1838dup
NM_001407940.1:c.1835dup
NM_001407941.1:c.1835dup
NM_001407942.1:c.1820dup
NM_001407943.1:c.1817dup
NM_001407944.1:c.1820dup
NM_001407945.1:c.1820dup
NM_001407946.1:c.1628dup
NM_001407947.1:c.1628dup
NM_001407948.1:c.1628dup
NM_001407949.1:c.1628dup
NM_001407950.1:c.1628dup
NM_001407951.1:c.1628dup
NM_001407952.1:c.1628dup
NM_001407953.1:c.1628dup
NM_001407954.1:c.1625dup
NM_001407955.1:c.1625dup
NM_001407956.1:c.1625dup
NM_001407957.1:c.1628dup
NM_001407958.1:c.1625dup
NM_001407959.1:c.1580dup
NM_001407960.1:c.1580dup
NM_001407962.1:c.1577dup
NM_001407963.1:c.1580dup
NM_001407964.1:c.1817dup
NM_001407965.1:c.1457dup
NM_001407966.1:c.1073dup
NM_001407967.1:c.1073dup
NM_001407968.1:c.787+1174dup
NM_001407969.1:c.787+1174dup
NM_001407970.1:c.787+1174dup
NM_001407971.1:c.787+1174dup
NM_001407972.1:c.784+1174dup
NM_001407973.1:c.787+1174dup
NM_001407974.1:c.787+1174dup
NM_001407975.1:c.787+1174dup
NM_001407976.1:c.787+1174dup
NM_001407977.1:c.787+1174dup
NM_001407978.1:c.787+1174dup
NM_001407979.1:c.787+1174dup
NM_001407980.1:c.787+1174dup
NM_001407981.1:c.787+1174dup
NM_001407982.1:c.787+1174dup
NM_001407983.1:c.787+1174dup
NM_001407984.1:c.784+1174dup
NM_001407985.1:c.784+1174dup
NM_001407986.1:c.784+1174dup
NM_001407990.1:c.787+1174dup
NM_001407991.1:c.784+1174dup
NM_001407992.1:c.784+1174dup
NM_001407993.1:c.787+1174dup
NM_001408392.1:c.784+1174dup
NM_001408396.1:c.784+1174dup
NM_001408397.1:c.784+1174dup
NM_001408398.1:c.784+1174dup
NM_001408399.1:c.784+1174dup
NM_001408400.1:c.784+1174dup
NM_001408401.1:c.784+1174dup
NM_001408402.1:c.784+1174dup
NM_001408403.1:c.787+1174dup
NM_001408404.1:c.787+1174dup
NM_001408406.1:c.790+1171dup
NM_001408407.1:c.784+1174dup
NM_001408408.1:c.778+1174dup
NM_001408409.1:c.709+1174dup
NM_001408410.1:c.646+1174dup
NM_001408411.1:c.709+1174dup
NM_001408412.1:c.709+1174dup
NM_001408413.1:c.706+1174dup
NM_001408414.1:c.709+1174dup
NM_001408415.1:c.709+1174dup
NM_001408416.1:c.706+1174dup
NM_001408418.1:c.670+2276dup
NM_001408419.1:c.670+2276dup
NM_001408420.1:c.670+2276dup
NM_001408421.1:c.667+2276dup
NM_001408422.1:c.670+2276dup
NM_001408423.1:c.670+2276dup
NM_001408424.1:c.667+2276dup
NM_001408425.1:c.664+1174dup
NM_001408426.1:c.664+1174dup
NM_001408427.1:c.664+1174dup
NM_001408428.1:c.664+1174dup
NM_001408429.1:c.664+1174dup
NM_001408430.1:c.664+1174dup
NM_001408431.1:c.667+2276dup
NM_001408432.1:c.661+1174dup
NM_001408433.1:c.661+1174dup
NM_001408434.1:c.661+1174dup
NM_001408435.1:c.661+1174dup
NM_001408436.1:c.664+1174dup
NM_001408437.1:c.664+1174dup
NM_001408438.1:c.664+1174dup
NM_001408439.1:c.664+1174dup
NM_001408440.1:c.664+1174dup
NM_001408441.1:c.664+1174dup
NM_001408442.1:c.664+1174dup
NM_001408443.1:c.664+1174dup
NM_001408444.1:c.664+1174dup
NM_001408445.1:c.661+1174dup
NM_001408446.1:c.661+1174dup
NM_001408447.1:c.661+1174dup
NM_001408448.1:c.661+1174dup
NM_001408450.1:c.661+1174dup
NM_001408451.1:c.652+1174dup
NM_001408452.1:c.646+1174dup
NM_001408453.1:c.646+1174dup
NM_001408454.1:c.646+1174dup
NM_001408455.1:c.646+1174dup
NM_001408456.1:c.646+1174dup
NM_001408457.1:c.646+1174dup
NM_001408458.1:c.646+1174dup
NM_001408459.1:c.646+1174dup
NM_001408460.1:c.646+1174dup
NM_001408461.1:c.646+1174dup
NM_001408462.1:c.643+1174dup
NM_001408463.1:c.643+1174dup
NM_001408464.1:c.643+1174dup
NM_001408465.1:c.643+1174dup
NM_001408466.1:c.646+1174dup
NM_001408467.1:c.646+1174dup
NM_001408468.1:c.643+1174dup
NM_001408469.1:c.646+1174dup
NM_001408470.1:c.643+1174dup
NM_001408472.1:c.787+1174dup
NM_001408473.1:c.784+1174dup
NM_001408474.1:c.586+1174dup
NM_001408475.1:c.583+1174dup
NM_001408476.1:c.586+1174dup
NM_001408478.1:c.577+1174dup
NM_001408479.1:c.577+1174dup
NM_001408480.1:c.577+1174dup
NM_001408481.1:c.577+1174dup
NM_001408482.1:c.577+1174dup
NM_001408483.1:c.577+1174dup
NM_001408484.1:c.577+1174dup
NM_001408485.1:c.577+1174dup
NM_001408489.1:c.577+1174dup
NM_001408490.1:c.574+1174dup
NM_001408491.1:c.574+1174dup
NM_001408492.1:c.577+1174dup
NM_001408493.1:c.574+1174dup
NM_001408494.1:c.548-2538dup
NM_001408495.1:c.545-2538dup
NM_001408496.1:c.523+1174dup
NM_001408497.1:c.523+1174dup
NM_001408498.1:c.523+1174dup
NM_001408499.1:c.523+1174dup
NM_001408500.1:c.523+1174dup
NM_001408501.1:c.523+1174dup
NM_001408502.1:c.454+1174dup
NM_001408503.1:c.520+1174dup
NM_001408504.1:c.520+1174dup
NM_001408505.1:c.520+1174dup
NM_001408506.1:c.460+2276dup
NM_001408507.1:c.460+2276dup
NM_001408508.1:c.451+1174dup
NM_001408509.1:c.451+1174dup
NM_001408510.1:c.406+1174dup
NM_001408511.1:c.404-2538dup
NM_001408512.1:c.283+1174dup
NM_001408513.1:c.577+1174dup
NM_001408514.1:c.577+1174dup
NM_007294.4:c.1961dupMANE SELECT
NM_007297.4:c.1820dup
NM_007298.4:c.787+1174dup
NM_007299.4:c.787+1174dup
NM_007300.4:c.1961dup
NP_001394500.1:p.Tyr584fs
NP_001394510.1:p.Tyr655fs
NP_001394511.1:p.Tyr655fs
NP_001394512.1:p.Tyr655fs
NP_001394514.1:p.Tyr655fs
NP_001394516.1:p.Tyr654fs
NP_001394519.1:p.Tyr654fs
NP_001394520.1:p.Tyr654fs
NP_001394522.1:p.Tyr655fs
NP_001394523.1:p.Tyr655fs
NP_001394525.1:p.Tyr655fs
NP_001394526.1:p.Tyr655fs
NP_001394527.1:p.Tyr655fs
NP_001394531.1:p.Tyr655fs
NP_001394532.1:p.Tyr655fs
NP_001394534.1:p.Tyr655fs
NP_001394539.1:p.Tyr654fs
NP_001394540.1:p.Tyr654fs
NP_001394541.1:p.Tyr654fs
NP_001394542.1:p.Tyr654fs
NP_001394543.1:p.Tyr654fs
NP_001394544.1:p.Tyr654fs
NP_001394545.1:p.Tyr655fs
NP_001394546.1:p.Tyr655fs
NP_001394547.1:p.Tyr655fs
NP_001394548.1:p.Tyr655fs
NP_001394549.1:p.Tyr655fs
NP_001394550.1:p.Tyr655fs
NP_001394551.1:p.Tyr655fs
NP_001394552.1:p.Tyr655fs
NP_001394553.1:p.Tyr655fs
NP_001394554.1:p.Tyr655fs
NP_001394555.1:p.Tyr655fs
NP_001394556.1:p.Tyr654fs
NP_001394557.1:p.Tyr654fs
NP_001394558.1:p.Tyr654fs
NP_001394559.1:p.Tyr654fs
NP_001394560.1:p.Tyr654fs
NP_001394561.1:p.Tyr654fs
NP_001394562.1:p.Tyr654fs
NP_001394563.1:p.Tyr654fs
NP_001394564.1:p.Tyr654fs
NP_001394565.1:p.Tyr654fs
NP_001394566.1:p.Tyr654fs
NP_001394567.1:p.Tyr654fs
NP_001394568.1:p.Tyr655fs
NP_001394569.1:p.Tyr655fs
NP_001394570.1:p.Tyr655fs
NP_001394571.1:p.Tyr655fs
NP_001394573.1:p.Tyr654fs
NP_001394574.1:p.Tyr654fs
NP_001394575.1:p.Tyr652fs
NP_001394576.1:p.Tyr652fs
NP_001394577.1:p.Tyr614fs
NP_001394578.1:p.Tyr613fs
NP_001394581.1:p.Tyr655fs
NP_001394582.1:p.Tyr629fs
NP_001394583.1:p.Tyr629fs
NP_001394584.1:p.Tyr629fs
NP_001394585.1:p.Tyr629fs
NP_001394586.1:p.Tyr629fs
NP_001394587.1:p.Tyr629fs
NP_001394588.1:p.Tyr628fs
NP_001394589.1:p.Tyr628fs
NP_001394590.1:p.Tyr628fs
NP_001394591.1:p.Tyr628fs
NP_001394592.1:p.Tyr629fs
NP_001394593.1:p.Tyr614fs
NP_001394594.1:p.Tyr614fs
NP_001394595.1:p.Tyr614fs
NP_001394596.1:p.Tyr614fs
NP_001394597.1:p.Tyr614fs
NP_001394598.1:p.Tyr614fs
NP_001394599.1:p.Tyr613fs
NP_001394600.1:p.Tyr613fs
NP_001394601.1:p.Tyr613fs
NP_001394602.1:p.Tyr613fs
NP_001394603.1:p.Tyr614fs
NP_001394604.1:p.Tyr614fs
NP_001394605.1:p.Tyr614fs
NP_001394606.1:p.Tyr614fs
NP_001394607.1:p.Tyr614fs
NP_001394608.1:p.Tyr614fs
NP_001394609.1:p.Tyr614fs
NP_001394610.1:p.Tyr614fs
NP_001394611.1:p.Tyr614fs
NP_001394612.1:p.Tyr614fs
NP_001394613.1:p.Tyr655fs
NP_001394614.1:p.Tyr613fs
NP_001394615.1:p.Tyr613fs
NP_001394616.1:p.Tyr613fs
NP_001394617.1:p.Tyr613fs
NP_001394618.1:p.Tyr613fs
NP_001394619.1:p.Tyr613fs
NP_001394620.1:p.Tyr613fs
NP_001394621.1:p.Tyr608fs
NP_001394623.1:p.Tyr608fs
NP_001394624.1:p.Tyr608fs
NP_001394625.1:p.Tyr608fs
NP_001394626.1:p.Tyr608fs
NP_001394627.1:p.Tyr608fs
NP_001394653.1:p.Tyr608fs
NP_001394654.1:p.Tyr608fs
NP_001394655.1:p.Tyr608fs
NP_001394656.1:p.Tyr608fs
NP_001394657.1:p.Tyr608fs
NP_001394658.1:p.Tyr608fs
NP_001394659.1:p.Tyr608fs
NP_001394660.1:p.Tyr608fs
NP_001394661.1:p.Tyr608fs
NP_001394662.1:p.Tyr608fs
NP_001394663.1:p.Tyr608fs
NP_001394664.1:p.Tyr608fs
NP_001394665.1:p.Tyr608fs
NP_001394666.1:p.Tyr608fs
NP_001394667.1:p.Tyr608fs
NP_001394668.1:p.Tyr608fs
NP_001394669.1:p.Tyr607fs
NP_001394670.1:p.Tyr607fs
NP_001394671.1:p.Tyr607fs
NP_001394672.1:p.Tyr607fs
NP_001394673.1:p.Tyr607fs
NP_001394674.1:p.Tyr607fs
NP_001394675.1:p.Tyr607fs
NP_001394676.1:p.Tyr607fs
NP_001394677.1:p.Tyr607fs
NP_001394678.1:p.Tyr607fs
NP_001394679.1:p.Tyr608fs
NP_001394680.1:p.Tyr608fs
NP_001394681.1:p.Tyr608fs
NP_001394767.1:p.Tyr607fs
NP_001394768.1:p.Tyr607fs
NP_001394770.1:p.Tyr607fs
NP_001394771.1:p.Tyr607fs
NP_001394772.1:p.Tyr607fs
NP_001394773.1:p.Tyr607fs
NP_001394774.1:p.Tyr607fs
NP_001394775.1:p.Tyr607fs
NP_001394776.1:p.Tyr607fs
NP_001394777.1:p.Tyr607fs
NP_001394778.1:p.Tyr607fs
NP_001394779.1:p.Tyr608fs
NP_001394780.1:p.Tyr608fs
NP_001394781.1:p.Tyr608fs
NP_001394782.1:p.Tyr584fs
NP_001394783.1:p.Tyr655fs
NP_001394787.1:p.Tyr655fs
NP_001394788.1:p.Tyr655fs
NP_001394789.1:p.Tyr654fs
NP_001394790.1:p.Tyr654fs
NP_001394791.1:p.Tyr588fs
NP_001394792.1:p.Tyr614fs
NP_001394803.1:p.Tyr587fs
NP_001394804.1:p.Tyr587fs
NP_001394808.1:p.Tyr585fs
NP_001394810.1:p.Tyr585fs
NP_001394811.1:p.Tyr585fs
NP_001394813.1:p.Tyr585fs
NP_001394814.1:p.Tyr585fs
NP_001394815.1:p.Tyr585fs
NP_001394816.1:p.Tyr585fs
NP_001394818.1:p.Tyr585fs
NP_001394823.1:p.Tyr584fs
NP_001394824.1:p.Tyr584fs
NP_001394825.1:p.Tyr584fs
NP_001394826.1:p.Tyr584fs
NP_001394827.1:p.Tyr584fs
NP_001394828.1:p.Tyr584fs
NP_001394829.1:p.Tyr585fs
NP_001394831.1:p.Tyr585fs
NP_001394833.1:p.Tyr585fs
NP_001394835.1:p.Tyr585fs
NP_001394836.1:p.Tyr585fs
NP_001394837.1:p.Tyr585fs
NP_001394838.1:p.Tyr585fs
NP_001394839.1:p.Tyr585fs
NP_001394844.1:p.Tyr584fs
NP_001394845.1:p.Tyr584fs
NP_001394846.1:p.Tyr584fs
NP_001394847.1:p.Tyr584fs
NP_001394848.1:p.Tyr614fs
NP_001394849.1:p.Tyr567fs
NP_001394850.1:p.Tyr567fs
NP_001394851.1:p.Tyr567fs
NP_001394852.1:p.Tyr567fs
NP_001394853.1:p.Tyr567fs
NP_001394854.1:p.Tyr567fs
NP_001394855.1:p.Tyr567fs
NP_001394856.1:p.Tyr567fs
NP_001394857.1:p.Tyr567fs
NP_001394858.1:p.Tyr567fs
NP_001394859.1:p.Tyr566fs
NP_001394860.1:p.Tyr566fs
NP_001394861.1:p.Tyr566fs
NP_001394862.1:p.Tyr567fs
NP_001394863.1:p.Tyr566fs
NP_001394864.1:p.Tyr567fs
NP_001394865.1:p.Tyr566fs
NP_001394866.1:p.Tyr614fs
NP_001394867.1:p.Tyr614fs
NP_001394868.1:p.Tyr614fs
NP_001394869.1:p.Tyr613fs
NP_001394870.1:p.Tyr613fs
NP_001394871.1:p.Tyr608fs
NP_001394872.1:p.Tyr607fs
NP_001394873.1:p.Tyr608fs
NP_001394874.1:p.Tyr608fs
NP_001394875.1:p.Tyr544fs
NP_001394876.1:p.Tyr544fs
NP_001394877.1:p.Tyr544fs
NP_001394878.1:p.Tyr544fs
NP_001394879.1:p.Tyr544fs
NP_001394880.1:p.Tyr544fs
NP_001394881.1:p.Tyr544fs
NP_001394882.1:p.Tyr544fs
NP_001394883.1:p.Tyr543fs
NP_001394884.1:p.Tyr543fs
NP_001394885.1:p.Tyr543fs
NP_001394886.1:p.Tyr544fs
NP_001394887.1:p.Tyr543fs
NP_001394888.1:p.Tyr528fs
NP_001394889.1:p.Tyr528fs
NP_001394891.1:p.Tyr527fs
NP_001394892.1:p.Tyr528fs
NP_001394893.1:p.Tyr607fs
NP_001394894.1:p.Tyr487fs
NP_001394895.1:p.Tyr359fs
NP_001394896.1:p.Tyr359fs
NP_009225.1:p.Tyr655Valfs
NP_009225.1:p.Tyr655fs
NP_009228.2:p.Tyr608fs
NP_009231.2:p.Tyr655fs
LRG_292t1:c.1954dup
LRG_292:g.124414dup
LRG_292p1:p.Tyr655Valfs
NC_000017.10:g.41245594dup
NC_000017.10:g.41245594dup
NM_007294.3:c.1954dup
NM_007294.3:c.1961dupA
NP_009225.1:p.Lys654delinsLysValfs
NR_027676.1:n.2090dup
U14680.1:n.2080_2081insA
p.Tyr655Valfs*18
p.Y655Vfs*18
p.Y655VfsX18

Nucleotide change:

2080insA

Protein change:

Y359fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2080&base_change=ins A; dbSNP: rs80357522

NCBI 1000 Genomes Browser:

rs80357522

Molecular consequence:

NM_001407571.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1952dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1952dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1880dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1880dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1880dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1880dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1883dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1958dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1760dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1757dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1757dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1697dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1694dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1625dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1625dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1625dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1625dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1580dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1580dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1577dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1580dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1817dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1457dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1073dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1073dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1171dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2538dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2538dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2276dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2538dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1174dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053611	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Jul 28, 2010)	germline	clinical testing
SCV000144261	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, somatic	clinical testing
SCV000282270	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325203	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000564296	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002589090	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing
SCV004216971	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 29, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	9	2	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	28	not provided	not provided	not provided	clinical testing, curation
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
Asian, Pakistan	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Chinese	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Near Eastern, Pakistan	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053611.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144261.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	clinical testing	not provided
2	Asian, Pakistan	1	not provided	not provided	clinical testing	not provided
3	Chinese	1	not provided	not provided	clinical testing	not provided
4	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
5	Near Eastern, Pakistan	1	not provided	not provided	clinical testing	not provided
6	Western European	2	not provided	not provided	clinical testing	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		8	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282270.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325203.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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	28	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564296.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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		1	not provided	not provided	not provided

From BRCAlab, Lund University, SCV002589090.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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	2	not provided

From Baylor Genetics, SCV004216971.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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