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 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- 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
This HGVS expression did not pass validation- 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
Assertion and evidence details
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 | |
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 | |
SCV004847913 | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Oct 14, 2019) | germline | clinical testing |
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
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.
- 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..
- PMID:
- 28492532
- PMCID:
- PMC5632818
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: Nov 24, 2024