NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Oct 20, 2023
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:: RCV000167828.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)]

NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)

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.1874_1877dup (p.Val627fs)

Other names:

1996ins4

HGVS:

NC_000017.11:g.43093654_43093657dup
NG_005905.2:g.124327_124330dup
NM_001407571.1:c.1661_1664dup
NM_001407581.1:c.1874_1877dup
NM_001407582.1:c.1874_1877dup
NM_001407583.1:c.1874_1877dup
NM_001407585.1:c.1874_1877dup
NM_001407587.1:c.1871_1874dup
NM_001407590.1:c.1871_1874dup
NM_001407591.1:c.1871_1874dup
NM_001407593.1:c.1874_1877dup
NM_001407594.1:c.1874_1877dup
NM_001407596.1:c.1874_1877dup
NM_001407597.1:c.1874_1877dup
NM_001407598.1:c.1874_1877dup
NM_001407602.1:c.1874_1877dup
NM_001407603.1:c.1874_1877dup
NM_001407605.1:c.1874_1877dup
NM_001407610.1:c.1871_1874dup
NM_001407611.1:c.1871_1874dup
NM_001407612.1:c.1871_1874dup
NM_001407613.1:c.1871_1874dup
NM_001407614.1:c.1871_1874dup
NM_001407615.1:c.1871_1874dup
NM_001407616.1:c.1874_1877dup
NM_001407617.1:c.1874_1877dup
NM_001407618.1:c.1874_1877dup
NM_001407619.1:c.1874_1877dup
NM_001407620.1:c.1874_1877dup
NM_001407621.1:c.1874_1877dup
NM_001407622.1:c.1874_1877dup
NM_001407623.1:c.1874_1877dup
NM_001407624.1:c.1874_1877dup
NM_001407625.1:c.1874_1877dup
NM_001407626.1:c.1874_1877dup
NM_001407627.1:c.1871_1874dup
NM_001407628.1:c.1871_1874dup
NM_001407629.1:c.1871_1874dup
NM_001407630.1:c.1871_1874dup
NM_001407631.1:c.1871_1874dup
NM_001407632.1:c.1871_1874dup
NM_001407633.1:c.1871_1874dup
NM_001407634.1:c.1871_1874dup
NM_001407635.1:c.1871_1874dup
NM_001407636.1:c.1871_1874dup
NM_001407637.1:c.1871_1874dup
NM_001407638.1:c.1871_1874dup
NM_001407639.1:c.1874_1877dup
NM_001407640.1:c.1874_1877dup
NM_001407641.1:c.1874_1877dup
NM_001407642.1:c.1874_1877dup
NM_001407644.1:c.1871_1874dup
NM_001407645.1:c.1871_1874dup
NM_001407646.1:c.1865_1868dup
NM_001407647.1:c.1865_1868dup
NM_001407648.1:c.1751_1754dup
NM_001407649.1:c.1748_1751dup
NM_001407652.1:c.1874_1877dup
NM_001407653.1:c.1796_1799dup
NM_001407654.1:c.1796_1799dup
NM_001407655.1:c.1796_1799dup
NM_001407656.1:c.1796_1799dup
NM_001407657.1:c.1796_1799dup
NM_001407658.1:c.1796_1799dup
NM_001407659.1:c.1793_1796dup
NM_001407660.1:c.1793_1796dup
NM_001407661.1:c.1793_1796dup
NM_001407662.1:c.1793_1796dup
NM_001407663.1:c.1796_1799dup
NM_001407664.1:c.1751_1754dup
NM_001407665.1:c.1751_1754dup
NM_001407666.1:c.1751_1754dup
NM_001407667.1:c.1751_1754dup
NM_001407668.1:c.1751_1754dup
NM_001407669.1:c.1751_1754dup
NM_001407670.1:c.1748_1751dup
NM_001407671.1:c.1748_1751dup
NM_001407672.1:c.1748_1751dup
NM_001407673.1:c.1748_1751dup
NM_001407674.1:c.1751_1754dup
NM_001407675.1:c.1751_1754dup
NM_001407676.1:c.1751_1754dup
NM_001407677.1:c.1751_1754dup
NM_001407678.1:c.1751_1754dup
NM_001407679.1:c.1751_1754dup
NM_001407680.1:c.1751_1754dup
NM_001407681.1:c.1751_1754dup
NM_001407682.1:c.1751_1754dup
NM_001407683.1:c.1751_1754dup
NM_001407684.1:c.1874_1877dup
NM_001407685.1:c.1748_1751dup
NM_001407686.1:c.1748_1751dup
NM_001407687.1:c.1748_1751dup
NM_001407688.1:c.1748_1751dup
NM_001407689.1:c.1748_1751dup
NM_001407690.1:c.1748_1751dup
NM_001407691.1:c.1748_1751dup
NM_001407692.1:c.1733_1736dup
NM_001407694.1:c.1733_1736dup
NM_001407695.1:c.1733_1736dup
NM_001407696.1:c.1733_1736dup
NM_001407697.1:c.1733_1736dup
NM_001407698.1:c.1733_1736dup
NM_001407724.1:c.1733_1736dup
NM_001407725.1:c.1733_1736dup
NM_001407726.1:c.1733_1736dup
NM_001407727.1:c.1733_1736dup
NM_001407728.1:c.1733_1736dup
NM_001407729.1:c.1733_1736dup
NM_001407730.1:c.1733_1736dup
NM_001407731.1:c.1733_1736dup
NM_001407732.1:c.1733_1736dup
NM_001407733.1:c.1733_1736dup
NM_001407734.1:c.1733_1736dup
NM_001407735.1:c.1733_1736dup
NM_001407736.1:c.1733_1736dup
NM_001407737.1:c.1733_1736dup
NM_001407738.1:c.1733_1736dup
NM_001407739.1:c.1733_1736dup
NM_001407740.1:c.1730_1733dup
NM_001407741.1:c.1730_1733dup
NM_001407742.1:c.1730_1733dup
NM_001407743.1:c.1730_1733dup
NM_001407744.1:c.1730_1733dup
NM_001407745.1:c.1730_1733dup
NM_001407746.1:c.1730_1733dup
NM_001407747.1:c.1730_1733dup
NM_001407748.1:c.1730_1733dup
NM_001407749.1:c.1730_1733dup
NM_001407750.1:c.1733_1736dup
NM_001407751.1:c.1733_1736dup
NM_001407752.1:c.1733_1736dup
NM_001407838.1:c.1730_1733dup
NM_001407839.1:c.1730_1733dup
NM_001407841.1:c.1730_1733dup
NM_001407842.1:c.1730_1733dup
NM_001407843.1:c.1730_1733dup
NM_001407844.1:c.1730_1733dup
NM_001407845.1:c.1730_1733dup
NM_001407846.1:c.1730_1733dup
NM_001407847.1:c.1730_1733dup
NM_001407848.1:c.1730_1733dup
NM_001407849.1:c.1730_1733dup
NM_001407850.1:c.1733_1736dup
NM_001407851.1:c.1733_1736dup
NM_001407852.1:c.1733_1736dup
NM_001407853.1:c.1661_1664dup
NM_001407854.1:c.1874_1877dup
NM_001407858.1:c.1874_1877dup
NM_001407859.1:c.1874_1877dup
NM_001407860.1:c.1871_1874dup
NM_001407861.1:c.1871_1874dup
NM_001407862.1:c.1673_1676dup
NM_001407863.1:c.1751_1754dup
NM_001407874.1:c.1670_1673dup
NM_001407875.1:c.1670_1673dup
NM_001407879.1:c.1664_1667dup
NM_001407881.1:c.1664_1667dup
NM_001407882.1:c.1664_1667dup
NM_001407884.1:c.1664_1667dup
NM_001407885.1:c.1664_1667dup
NM_001407886.1:c.1664_1667dup
NM_001407887.1:c.1664_1667dup
NM_001407889.1:c.1664_1667dup
NM_001407894.1:c.1661_1664dup
NM_001407895.1:c.1661_1664dup
NM_001407896.1:c.1661_1664dup
NM_001407897.1:c.1661_1664dup
NM_001407898.1:c.1661_1664dup
NM_001407899.1:c.1661_1664dup
NM_001407900.1:c.1664_1667dup
NM_001407902.1:c.1664_1667dup
NM_001407904.1:c.1664_1667dup
NM_001407906.1:c.1664_1667dup
NM_001407907.1:c.1664_1667dup
NM_001407908.1:c.1664_1667dup
NM_001407909.1:c.1664_1667dup
NM_001407910.1:c.1664_1667dup
NM_001407915.1:c.1661_1664dup
NM_001407916.1:c.1661_1664dup
NM_001407917.1:c.1661_1664dup
NM_001407918.1:c.1661_1664dup
NM_001407919.1:c.1751_1754dup
NM_001407920.1:c.1610_1613dup
NM_001407921.1:c.1610_1613dup
NM_001407922.1:c.1610_1613dup
NM_001407923.1:c.1610_1613dup
NM_001407924.1:c.1610_1613dup
NM_001407925.1:c.1610_1613dup
NM_001407926.1:c.1610_1613dup
NM_001407927.1:c.1610_1613dup
NM_001407928.1:c.1610_1613dup
NM_001407929.1:c.1610_1613dup
NM_001407930.1:c.1607_1610dup
NM_001407931.1:c.1607_1610dup
NM_001407932.1:c.1607_1610dup
NM_001407933.1:c.1610_1613dup
NM_001407934.1:c.1607_1610dup
NM_001407935.1:c.1610_1613dup
NM_001407936.1:c.1607_1610dup
NM_001407937.1:c.1751_1754dup
NM_001407938.1:c.1751_1754dup
NM_001407939.1:c.1751_1754dup
NM_001407940.1:c.1748_1751dup
NM_001407941.1:c.1748_1751dup
NM_001407942.1:c.1733_1736dup
NM_001407943.1:c.1730_1733dup
NM_001407944.1:c.1733_1736dup
NM_001407945.1:c.1733_1736dup
NM_001407946.1:c.1541_1544dup
NM_001407947.1:c.1541_1544dup
NM_001407948.1:c.1541_1544dup
NM_001407949.1:c.1541_1544dup
NM_001407950.1:c.1541_1544dup
NM_001407951.1:c.1541_1544dup
NM_001407952.1:c.1541_1544dup
NM_001407953.1:c.1541_1544dup
NM_001407954.1:c.1538_1541dup
NM_001407955.1:c.1538_1541dup
NM_001407956.1:c.1538_1541dup
NM_001407957.1:c.1541_1544dup
NM_001407958.1:c.1538_1541dup
NM_001407959.1:c.1493_1496dup
NM_001407960.1:c.1493_1496dup
NM_001407962.1:c.1490_1493dup
NM_001407963.1:c.1493_1496dup
NM_001407964.1:c.1730_1733dup
NM_001407965.1:c.1370_1373dup
NM_001407966.1:c.986_989dup
NM_001407967.1:c.986_989dup
NM_001407968.1:c.787+1087_787+1090dup
NM_001407969.1:c.787+1087_787+1090dup
NM_001407970.1:c.787+1087_787+1090dup
NM_001407971.1:c.787+1087_787+1090dup
NM_001407972.1:c.784+1087_784+1090dup
NM_001407973.1:c.787+1087_787+1090dup
NM_001407974.1:c.787+1087_787+1090dup
NM_001407975.1:c.787+1087_787+1090dup
NM_001407976.1:c.787+1087_787+1090dup
NM_001407977.1:c.787+1087_787+1090dup
NM_001407978.1:c.787+1087_787+1090dup
NM_001407979.1:c.787+1087_787+1090dup
NM_001407980.1:c.787+1087_787+1090dup
NM_001407981.1:c.787+1087_787+1090dup
NM_001407982.1:c.787+1087_787+1090dup
NM_001407983.1:c.787+1087_787+1090dup
NM_001407984.1:c.784+1087_784+1090dup
NM_001407985.1:c.784+1087_784+1090dup
NM_001407986.1:c.784+1087_784+1090dup
NM_001407990.1:c.787+1087_787+1090dup
NM_001407991.1:c.784+1087_784+1090dup
NM_001407992.1:c.784+1087_784+1090dup
NM_001407993.1:c.787+1087_787+1090dup
NM_001408392.1:c.784+1087_784+1090dup
NM_001408396.1:c.784+1087_784+1090dup
NM_001408397.1:c.784+1087_784+1090dup
NM_001408398.1:c.784+1087_784+1090dup
NM_001408399.1:c.784+1087_784+1090dup
NM_001408400.1:c.784+1087_784+1090dup
NM_001408401.1:c.784+1087_784+1090dup
NM_001408402.1:c.784+1087_784+1090dup
NM_001408403.1:c.787+1087_787+1090dup
NM_001408404.1:c.787+1087_787+1090dup
NM_001408406.1:c.790+1084_790+1087dup
NM_001408407.1:c.784+1087_784+1090dup
NM_001408408.1:c.778+1087_778+1090dup
NM_001408409.1:c.709+1087_709+1090dup
NM_001408410.1:c.646+1087_646+1090dup
NM_001408411.1:c.709+1087_709+1090dup
NM_001408412.1:c.709+1087_709+1090dup
NM_001408413.1:c.706+1087_706+1090dup
NM_001408414.1:c.709+1087_709+1090dup
NM_001408415.1:c.709+1087_709+1090dup
NM_001408416.1:c.706+1087_706+1090dup
NM_001408418.1:c.670+2189_670+2192dup
NM_001408419.1:c.670+2189_670+2192dup
NM_001408420.1:c.670+2189_670+2192dup
NM_001408421.1:c.667+2189_667+2192dup
NM_001408422.1:c.670+2189_670+2192dup
NM_001408423.1:c.670+2189_670+2192dup
NM_001408424.1:c.667+2189_667+2192dup
NM_001408425.1:c.664+1087_664+1090dup
NM_001408426.1:c.664+1087_664+1090dup
NM_001408427.1:c.664+1087_664+1090dup
NM_001408428.1:c.664+1087_664+1090dup
NM_001408429.1:c.664+1087_664+1090dup
NM_001408430.1:c.664+1087_664+1090dup
NM_001408431.1:c.667+2189_667+2192dup
NM_001408432.1:c.661+1087_661+1090dup
NM_001408433.1:c.661+1087_661+1090dup
NM_001408434.1:c.661+1087_661+1090dup
NM_001408435.1:c.661+1087_661+1090dup
NM_001408436.1:c.664+1087_664+1090dup
NM_001408437.1:c.664+1087_664+1090dup
NM_001408438.1:c.664+1087_664+1090dup
NM_001408439.1:c.664+1087_664+1090dup
NM_001408440.1:c.664+1087_664+1090dup
NM_001408441.1:c.664+1087_664+1090dup
NM_001408442.1:c.664+1087_664+1090dup
NM_001408443.1:c.664+1087_664+1090dup
NM_001408444.1:c.664+1087_664+1090dup
NM_001408445.1:c.661+1087_661+1090dup
NM_001408446.1:c.661+1087_661+1090dup
NM_001408447.1:c.661+1087_661+1090dup
NM_001408448.1:c.661+1087_661+1090dup
NM_001408450.1:c.661+1087_661+1090dup
NM_001408451.1:c.652+1087_652+1090dup
NM_001408452.1:c.646+1087_646+1090dup
NM_001408453.1:c.646+1087_646+1090dup
NM_001408454.1:c.646+1087_646+1090dup
NM_001408455.1:c.646+1087_646+1090dup
NM_001408456.1:c.646+1087_646+1090dup
NM_001408457.1:c.646+1087_646+1090dup
NM_001408458.1:c.646+1087_646+1090dup
NM_001408459.1:c.646+1087_646+1090dup
NM_001408460.1:c.646+1087_646+1090dup
NM_001408461.1:c.646+1087_646+1090dup
NM_001408462.1:c.643+1087_643+1090dup
NM_001408463.1:c.643+1087_643+1090dup
NM_001408464.1:c.643+1087_643+1090dup
NM_001408465.1:c.643+1087_643+1090dup
NM_001408466.1:c.646+1087_646+1090dup
NM_001408467.1:c.646+1087_646+1090dup
NM_001408468.1:c.643+1087_643+1090dup
NM_001408469.1:c.646+1087_646+1090dup
NM_001408470.1:c.643+1087_643+1090dup
NM_001408472.1:c.787+1087_787+1090dup
NM_001408473.1:c.784+1087_784+1090dup
NM_001408474.1:c.586+1087_586+1090dup
NM_001408475.1:c.583+1087_583+1090dup
NM_001408476.1:c.586+1087_586+1090dup
NM_001408478.1:c.577+1087_577+1090dup
NM_001408479.1:c.577+1087_577+1090dup
NM_001408480.1:c.577+1087_577+1090dup
NM_001408481.1:c.577+1087_577+1090dup
NM_001408482.1:c.577+1087_577+1090dup
NM_001408483.1:c.577+1087_577+1090dup
NM_001408484.1:c.577+1087_577+1090dup
NM_001408485.1:c.577+1087_577+1090dup
NM_001408489.1:c.577+1087_577+1090dup
NM_001408490.1:c.574+1087_574+1090dup
NM_001408491.1:c.574+1087_574+1090dup
NM_001408492.1:c.577+1087_577+1090dup
NM_001408493.1:c.574+1087_574+1090dup
NM_001408494.1:c.548-2625_548-2622dup
NM_001408495.1:c.545-2625_545-2622dup
NM_001408496.1:c.523+1087_523+1090dup
NM_001408497.1:c.523+1087_523+1090dup
NM_001408498.1:c.523+1087_523+1090dup
NM_001408499.1:c.523+1087_523+1090dup
NM_001408500.1:c.523+1087_523+1090dup
NM_001408501.1:c.523+1087_523+1090dup
NM_001408502.1:c.454+1087_454+1090dup
NM_001408503.1:c.520+1087_520+1090dup
NM_001408504.1:c.520+1087_520+1090dup
NM_001408505.1:c.520+1087_520+1090dup
NM_001408506.1:c.460+2189_460+2192dup
NM_001408507.1:c.460+2189_460+2192dup
NM_001408508.1:c.451+1087_451+1090dup
NM_001408509.1:c.451+1087_451+1090dup
NM_001408510.1:c.406+1087_406+1090dup
NM_001408511.1:c.404-2625_404-2622dup
NM_001408512.1:c.283+1087_283+1090dup
NM_001408513.1:c.577+1087_577+1090dup
NM_001408514.1:c.577+1087_577+1090dup
NM_007294.4:c.1874_1877dupMANE SELECT
NM_007297.4:c.1733_1736dup
NM_007298.4:c.787+1087_787+1090dup
NM_007299.4:c.787+1087_787+1090dup
NM_007300.4:c.1874_1877dup
NP_001394500.1:p.Val556fs
NP_001394510.1:p.Val627fs
NP_001394511.1:p.Val627fs
NP_001394512.1:p.Val627fs
NP_001394514.1:p.Val627fs
NP_001394516.1:p.Val626fs
NP_001394519.1:p.Val626fs
NP_001394520.1:p.Val626fs
NP_001394522.1:p.Val627fs
NP_001394523.1:p.Val627fs
NP_001394525.1:p.Val627fs
NP_001394526.1:p.Val627fs
NP_001394527.1:p.Val627fs
NP_001394531.1:p.Val627fs
NP_001394532.1:p.Val627fs
NP_001394534.1:p.Val627fs
NP_001394539.1:p.Val626fs
NP_001394540.1:p.Val626fs
NP_001394541.1:p.Val626fs
NP_001394542.1:p.Val626fs
NP_001394543.1:p.Val626fs
NP_001394544.1:p.Val626fs
NP_001394545.1:p.Val627fs
NP_001394546.1:p.Val627fs
NP_001394547.1:p.Val627fs
NP_001394548.1:p.Val627fs
NP_001394549.1:p.Val627fs
NP_001394550.1:p.Val627fs
NP_001394551.1:p.Val627fs
NP_001394552.1:p.Val627fs
NP_001394553.1:p.Val627fs
NP_001394554.1:p.Val627fs
NP_001394555.1:p.Val627fs
NP_001394556.1:p.Val626fs
NP_001394557.1:p.Val626fs
NP_001394558.1:p.Val626fs
NP_001394559.1:p.Val626fs
NP_001394560.1:p.Val626fs
NP_001394561.1:p.Val626fs
NP_001394562.1:p.Val626fs
NP_001394563.1:p.Val626fs
NP_001394564.1:p.Val626fs
NP_001394565.1:p.Val626fs
NP_001394566.1:p.Val626fs
NP_001394567.1:p.Val626fs
NP_001394568.1:p.Val627fs
NP_001394569.1:p.Val627fs
NP_001394570.1:p.Val627fs
NP_001394571.1:p.Val627fs
NP_001394573.1:p.Val626fs
NP_001394574.1:p.Val626fs
NP_001394575.1:p.Val624fs
NP_001394576.1:p.Val624fs
NP_001394577.1:p.Val586fs
NP_001394578.1:p.Val585fs
NP_001394581.1:p.Val627fs
NP_001394582.1:p.Val601fs
NP_001394583.1:p.Val601fs
NP_001394584.1:p.Val601fs
NP_001394585.1:p.Val601fs
NP_001394586.1:p.Val601fs
NP_001394587.1:p.Val601fs
NP_001394588.1:p.Val600fs
NP_001394589.1:p.Val600fs
NP_001394590.1:p.Val600fs
NP_001394591.1:p.Val600fs
NP_001394592.1:p.Val601fs
NP_001394593.1:p.Val586fs
NP_001394594.1:p.Val586fs
NP_001394595.1:p.Val586fs
NP_001394596.1:p.Val586fs
NP_001394597.1:p.Val586fs
NP_001394598.1:p.Val586fs
NP_001394599.1:p.Val585fs
NP_001394600.1:p.Val585fs
NP_001394601.1:p.Val585fs
NP_001394602.1:p.Val585fs
NP_001394603.1:p.Val586fs
NP_001394604.1:p.Val586fs
NP_001394605.1:p.Val586fs
NP_001394606.1:p.Val586fs
NP_001394607.1:p.Val586fs
NP_001394608.1:p.Val586fs
NP_001394609.1:p.Val586fs
NP_001394610.1:p.Val586fs
NP_001394611.1:p.Val586fs
NP_001394612.1:p.Val586fs
NP_001394613.1:p.Val627fs
NP_001394614.1:p.Val585fs
NP_001394615.1:p.Val585fs
NP_001394616.1:p.Val585fs
NP_001394617.1:p.Val585fs
NP_001394618.1:p.Val585fs
NP_001394619.1:p.Val585fs
NP_001394620.1:p.Val585fs
NP_001394621.1:p.Val580fs
NP_001394623.1:p.Val580fs
NP_001394624.1:p.Val580fs
NP_001394625.1:p.Val580fs
NP_001394626.1:p.Val580fs
NP_001394627.1:p.Val580fs
NP_001394653.1:p.Val580fs
NP_001394654.1:p.Val580fs
NP_001394655.1:p.Val580fs
NP_001394656.1:p.Val580fs
NP_001394657.1:p.Val580fs
NP_001394658.1:p.Val580fs
NP_001394659.1:p.Val580fs
NP_001394660.1:p.Val580fs
NP_001394661.1:p.Val580fs
NP_001394662.1:p.Val580fs
NP_001394663.1:p.Val580fs
NP_001394664.1:p.Val580fs
NP_001394665.1:p.Val580fs
NP_001394666.1:p.Val580fs
NP_001394667.1:p.Val580fs
NP_001394668.1:p.Val580fs
NP_001394669.1:p.Val579fs
NP_001394670.1:p.Val579fs
NP_001394671.1:p.Val579fs
NP_001394672.1:p.Val579fs
NP_001394673.1:p.Val579fs
NP_001394674.1:p.Val579fs
NP_001394675.1:p.Val579fs
NP_001394676.1:p.Val579fs
NP_001394677.1:p.Val579fs
NP_001394678.1:p.Val579fs
NP_001394679.1:p.Val580fs
NP_001394680.1:p.Val580fs
NP_001394681.1:p.Val580fs
NP_001394767.1:p.Val579fs
NP_001394768.1:p.Val579fs
NP_001394770.1:p.Val579fs
NP_001394771.1:p.Val579fs
NP_001394772.1:p.Val579fs
NP_001394773.1:p.Val579fs
NP_001394774.1:p.Val579fs
NP_001394775.1:p.Val579fs
NP_001394776.1:p.Val579fs
NP_001394777.1:p.Val579fs
NP_001394778.1:p.Val579fs
NP_001394779.1:p.Val580fs
NP_001394780.1:p.Val580fs
NP_001394781.1:p.Val580fs
NP_001394782.1:p.Val556fs
NP_001394783.1:p.Val627fs
NP_001394787.1:p.Val627fs
NP_001394788.1:p.Val627fs
NP_001394789.1:p.Val626fs
NP_001394790.1:p.Val626fs
NP_001394791.1:p.Val560fs
NP_001394792.1:p.Val586fs
NP_001394803.1:p.Val559fs
NP_001394804.1:p.Val559fs
NP_001394808.1:p.Val557fs
NP_001394810.1:p.Val557fs
NP_001394811.1:p.Val557fs
NP_001394813.1:p.Val557fs
NP_001394814.1:p.Val557fs
NP_001394815.1:p.Val557fs
NP_001394816.1:p.Val557fs
NP_001394818.1:p.Val557fs
NP_001394823.1:p.Val556fs
NP_001394824.1:p.Val556fs
NP_001394825.1:p.Val556fs
NP_001394826.1:p.Val556fs
NP_001394827.1:p.Val556fs
NP_001394828.1:p.Val556fs
NP_001394829.1:p.Val557fs
NP_001394831.1:p.Val557fs
NP_001394833.1:p.Val557fs
NP_001394835.1:p.Val557fs
NP_001394836.1:p.Val557fs
NP_001394837.1:p.Val557fs
NP_001394838.1:p.Val557fs
NP_001394839.1:p.Val557fs
NP_001394844.1:p.Val556fs
NP_001394845.1:p.Val556fs
NP_001394846.1:p.Val556fs
NP_001394847.1:p.Val556fs
NP_001394848.1:p.Val586fs
NP_001394849.1:p.Val539fs
NP_001394850.1:p.Val539fs
NP_001394851.1:p.Val539fs
NP_001394852.1:p.Val539fs
NP_001394853.1:p.Val539fs
NP_001394854.1:p.Val539fs
NP_001394855.1:p.Val539fs
NP_001394856.1:p.Val539fs
NP_001394857.1:p.Val539fs
NP_001394858.1:p.Val539fs
NP_001394859.1:p.Val538fs
NP_001394860.1:p.Val538fs
NP_001394861.1:p.Val538fs
NP_001394862.1:p.Val539fs
NP_001394863.1:p.Val538fs
NP_001394864.1:p.Val539fs
NP_001394865.1:p.Val538fs
NP_001394866.1:p.Val586fs
NP_001394867.1:p.Val586fs
NP_001394868.1:p.Val586fs
NP_001394869.1:p.Val585fs
NP_001394870.1:p.Val585fs
NP_001394871.1:p.Val580fs
NP_001394872.1:p.Val579fs
NP_001394873.1:p.Val580fs
NP_001394874.1:p.Val580fs
NP_001394875.1:p.Val516fs
NP_001394876.1:p.Val516fs
NP_001394877.1:p.Val516fs
NP_001394878.1:p.Val516fs
NP_001394879.1:p.Val516fs
NP_001394880.1:p.Val516fs
NP_001394881.1:p.Val516fs
NP_001394882.1:p.Val516fs
NP_001394883.1:p.Val515fs
NP_001394884.1:p.Val515fs
NP_001394885.1:p.Val515fs
NP_001394886.1:p.Val516fs
NP_001394887.1:p.Val515fs
NP_001394888.1:p.Val500fs
NP_001394889.1:p.Val500fs
NP_001394891.1:p.Val499fs
NP_001394892.1:p.Val500fs
NP_001394893.1:p.Val579fs
NP_001394894.1:p.Val459fs
NP_001394895.1:p.Val331fs
NP_001394896.1:p.Val331fs
NP_009225.1:p.Val627fs
NP_009228.2:p.Val580fs
NP_009231.2:p.Val627fs
LRG_292t1:c.1874_1877dup
LRG_292:g.124327_124330dup
LRG_292p1:p.Val627Serfs
NC_000017.10:g.41245671_41245674dup
NC_000017.10:g.41245671_41245674dup
NC_000017.11:g.43093653_43093654insACTA
NM_007294.3:c.1874_1877dupTAGT
NM_007294.4:c.1874_1877dup
NR_027676.1:n.2010_2013dup
U14680.1:n.1996_1997insTAGT
p.V626VFS*5
p.V627SfsX4
p.Val627Serfs*4

Protein change:

V331fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 1996&base_change=ins TAGT; dbSNP: rs80357516

NCBI 1000 Genomes Browser:

rs80357516

Molecular consequence:

NM_001407571.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1865_1868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1865_1868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1793_1796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1793_1796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1793_1796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1793_1796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1796_1799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1871_1874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1673_1676dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1670_1673dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1670_1673dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1664_1667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1661_1664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1607_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1607_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1607_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1607_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1610_1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1607_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1751_1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1748_1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1538_1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1538_1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1538_1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1541_1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1538_1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1493_1496dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1493_1496dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1490_1493dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1493_1496dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1730_1733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1370_1373dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.986_989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.986_989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1733_1736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1874_1877dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1084_790+1087dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1087_778+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1087_709+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1087_709+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1087_709+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1087_706+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1087_709+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1087_709+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1087_706+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2189_670+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2189_670+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2189_670+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2189_667+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2189_670+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2189_670+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2189_667+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2189_667+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1087_664+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1087_661+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1087_652+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1087_646+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1087_643+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1087_784+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1087_586+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1087_583+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1087_586+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1087_574+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1087_574+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1087_574+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2625_548-2622dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2625_545-2622dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1087_523+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1087_454+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1087_520+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1087_520+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1087_520+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2189_460+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2189_460+2192dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1087_451+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1087_451+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1087_406+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2625_404-2622dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1087_283+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1087_577+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1087_787+1090dup - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000075628	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 20, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20104584, 12505256, 22970155, 28492532
SCV000587165	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
SCV000698894	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (May 31, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18465347, 22970155, 12505256, 25452441, 29446198 Citation Link,
SCV004847913	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 14, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22970155, 12505256, 18465347, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000075628.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Val627Serfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer and an individual affected with breast and/or ovarian cancer (PMID: 12505256, 22970155). This variant is also known as 1996insTAGT. ClinVar contains an entry for this variant (Variation ID: 54376). 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 Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587165.1

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698894.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: BRCA1 c.1874_1877dupTAGT (p.Val627SerfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251314 control chromosomes. c.1874_1877dupTAGT has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Balz_2002, Thomassen_2008, Kwong_2012, Couch_2015, Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submissions from clinical diagnostic laboratories and one expert panel (ENIGMA)(evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was 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, SCV004847913.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.Val627SerfsX4 variant in BRCA1 has been reported in at least 17 individuals with hereditary breast and/or ovarian cancer (HBOC; Kwong 2014, Balz 2002, Thomassen 2008, BIC database) and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 627 and leads to a premature termination codon 4 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant HBOC. Additionally, this variant was classified as Pathogenic on Sep 8, 2016 by the ClinGen-approved ENIGMA expert panel (Variation ID: 54376). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine