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NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 16, 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:
RCV000047615.21

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209880GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 16, 2023) 		germlineclinical testing

Citation Link,

SCV000296276Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Dec 15, 2014) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families.

Balz V, Prisack HB, Bier H, Bojar H.

Cancer Genet Cytogenet. 2002 Oct 15;138(2):120-7.

PubMed [citation]
PMID:
12505256

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000209880.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in several individuals with personal and/or family histories consistent with hereditary breast and/or ovarian cancer (Balz et al., 2002; Thomassen et al., 2008; Bellacosa et al., 2010; Kwong et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 1877_1878insTAGT, 1878_1879insTAGT, 1997insTAGT, and 1996insTAGT; This variant is associated with the following publications: (PMID: 21702907, 16267036, 18465347, 28888541, 12505256, 20051372, 27157322, 22970155, 33087929, 29446198)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296276.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024