NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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

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

Record status:: current
Accession:: RCV000241092.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)]

NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)

Other names:

LRG_292t1:c.2066_2069delGTAA

HGVS:

NC_000017.11:g.43093464_43093467del
NG_005905.2:g.124519_124522del
NM_001407571.1:c.1853_1856del
NM_001407581.1:c.2066_2069del
NM_001407582.1:c.2066_2069del
NM_001407583.1:c.2066_2069del
NM_001407585.1:c.2066_2069del
NM_001407587.1:c.2063_2066del
NM_001407590.1:c.2063_2066del
NM_001407591.1:c.2063_2066del
NM_001407593.1:c.2066_2069del
NM_001407594.1:c.2066_2069del
NM_001407596.1:c.2066_2069del
NM_001407597.1:c.2066_2069del
NM_001407598.1:c.2066_2069del
NM_001407602.1:c.2066_2069del
NM_001407603.1:c.2066_2069del
NM_001407605.1:c.2066_2069del
NM_001407610.1:c.2063_2066del
NM_001407611.1:c.2063_2066del
NM_001407612.1:c.2063_2066del
NM_001407613.1:c.2063_2066del
NM_001407614.1:c.2063_2066del
NM_001407615.1:c.2063_2066del
NM_001407616.1:c.2066_2069del
NM_001407617.1:c.2066_2069del
NM_001407618.1:c.2066_2069del
NM_001407619.1:c.2066_2069del
NM_001407620.1:c.2066_2069del
NM_001407621.1:c.2066_2069del
NM_001407622.1:c.2066_2069del
NM_001407623.1:c.2066_2069del
NM_001407624.1:c.2066_2069del
NM_001407625.1:c.2066_2069del
NM_001407626.1:c.2066_2069del
NM_001407627.1:c.2063_2066del
NM_001407628.1:c.2063_2066del
NM_001407629.1:c.2063_2066del
NM_001407630.1:c.2063_2066del
NM_001407631.1:c.2063_2066del
NM_001407632.1:c.2063_2066del
NM_001407633.1:c.2063_2066del
NM_001407634.1:c.2063_2066del
NM_001407635.1:c.2063_2066del
NM_001407636.1:c.2063_2066del
NM_001407637.1:c.2063_2066del
NM_001407638.1:c.2063_2066del
NM_001407639.1:c.2066_2069del
NM_001407640.1:c.2066_2069del
NM_001407641.1:c.2066_2069del
NM_001407642.1:c.2066_2069del
NM_001407644.1:c.2063_2066del
NM_001407645.1:c.2063_2066del
NM_001407646.1:c.2057_2060del
NM_001407647.1:c.2057_2060del
NM_001407648.1:c.1943_1946del
NM_001407649.1:c.1940_1943del
NM_001407652.1:c.2066_2069del
NM_001407653.1:c.1988_1991del
NM_001407654.1:c.1988_1991del
NM_001407655.1:c.1988_1991del
NM_001407656.1:c.1988_1991del
NM_001407657.1:c.1988_1991del
NM_001407658.1:c.1988_1991del
NM_001407659.1:c.1985_1988del
NM_001407660.1:c.1985_1988del
NM_001407661.1:c.1985_1988del
NM_001407662.1:c.1985_1988del
NM_001407663.1:c.1988_1991del
NM_001407664.1:c.1943_1946del
NM_001407665.1:c.1943_1946del
NM_001407666.1:c.1943_1946del
NM_001407667.1:c.1943_1946del
NM_001407668.1:c.1943_1946del
NM_001407669.1:c.1943_1946del
NM_001407670.1:c.1940_1943del
NM_001407671.1:c.1940_1943del
NM_001407672.1:c.1940_1943del
NM_001407673.1:c.1940_1943del
NM_001407674.1:c.1943_1946del
NM_001407675.1:c.1943_1946del
NM_001407676.1:c.1943_1946del
NM_001407677.1:c.1943_1946del
NM_001407678.1:c.1943_1946del
NM_001407679.1:c.1943_1946del
NM_001407680.1:c.1943_1946del
NM_001407681.1:c.1943_1946del
NM_001407682.1:c.1943_1946del
NM_001407683.1:c.1943_1946del
NM_001407684.1:c.2066_2069del
NM_001407685.1:c.1940_1943del
NM_001407686.1:c.1940_1943del
NM_001407687.1:c.1940_1943del
NM_001407688.1:c.1940_1943del
NM_001407689.1:c.1940_1943del
NM_001407690.1:c.1940_1943del
NM_001407691.1:c.1940_1943del
NM_001407692.1:c.1925_1928del
NM_001407694.1:c.1925_1928del
NM_001407695.1:c.1925_1928del
NM_001407696.1:c.1925_1928del
NM_001407697.1:c.1925_1928del
NM_001407698.1:c.1925_1928del
NM_001407724.1:c.1925_1928del
NM_001407725.1:c.1925_1928del
NM_001407726.1:c.1925_1928del
NM_001407727.1:c.1925_1928del
NM_001407728.1:c.1925_1928del
NM_001407729.1:c.1925_1928del
NM_001407730.1:c.1925_1928del
NM_001407731.1:c.1925_1928del
NM_001407732.1:c.1925_1928del
NM_001407733.1:c.1925_1928del
NM_001407734.1:c.1925_1928del
NM_001407735.1:c.1925_1928del
NM_001407736.1:c.1925_1928del
NM_001407737.1:c.1925_1928del
NM_001407738.1:c.1925_1928del
NM_001407739.1:c.1925_1928del
NM_001407740.1:c.1922_1925del
NM_001407741.1:c.1922_1925del
NM_001407742.1:c.1922_1925del
NM_001407743.1:c.1922_1925del
NM_001407744.1:c.1922_1925del
NM_001407745.1:c.1922_1925del
NM_001407746.1:c.1922_1925del
NM_001407747.1:c.1922_1925del
NM_001407748.1:c.1922_1925del
NM_001407749.1:c.1922_1925del
NM_001407750.1:c.1925_1928del
NM_001407751.1:c.1925_1928del
NM_001407752.1:c.1925_1928del
NM_001407838.1:c.1922_1925del
NM_001407839.1:c.1922_1925del
NM_001407841.1:c.1922_1925del
NM_001407842.1:c.1922_1925del
NM_001407843.1:c.1922_1925del
NM_001407844.1:c.1922_1925del
NM_001407845.1:c.1922_1925del
NM_001407846.1:c.1922_1925del
NM_001407847.1:c.1922_1925del
NM_001407848.1:c.1922_1925del
NM_001407849.1:c.1922_1925del
NM_001407850.1:c.1925_1928del
NM_001407851.1:c.1925_1928del
NM_001407852.1:c.1925_1928del
NM_001407853.1:c.1853_1856del
NM_001407854.1:c.2066_2069del
NM_001407858.1:c.2066_2069del
NM_001407859.1:c.2066_2069del
NM_001407860.1:c.2063_2066del
NM_001407861.1:c.2063_2066del
NM_001407862.1:c.1865_1868del
NM_001407863.1:c.1943_1946del
NM_001407874.1:c.1862_1865del
NM_001407875.1:c.1862_1865del
NM_001407879.1:c.1856_1859del
NM_001407881.1:c.1856_1859del
NM_001407882.1:c.1856_1859del
NM_001407884.1:c.1856_1859del
NM_001407885.1:c.1856_1859del
NM_001407886.1:c.1856_1859del
NM_001407887.1:c.1856_1859del
NM_001407889.1:c.1856_1859del
NM_001407894.1:c.1853_1856del
NM_001407895.1:c.1853_1856del
NM_001407896.1:c.1853_1856del
NM_001407897.1:c.1853_1856del
NM_001407898.1:c.1853_1856del
NM_001407899.1:c.1853_1856del
NM_001407900.1:c.1856_1859del
NM_001407902.1:c.1856_1859del
NM_001407904.1:c.1856_1859del
NM_001407906.1:c.1856_1859del
NM_001407907.1:c.1856_1859del
NM_001407908.1:c.1856_1859del
NM_001407909.1:c.1856_1859del
NM_001407910.1:c.1856_1859del
NM_001407915.1:c.1853_1856del
NM_001407916.1:c.1853_1856del
NM_001407917.1:c.1853_1856del
NM_001407918.1:c.1853_1856del
NM_001407919.1:c.1943_1946del
NM_001407920.1:c.1802_1805del
NM_001407921.1:c.1802_1805del
NM_001407922.1:c.1802_1805del
NM_001407923.1:c.1802_1805del
NM_001407924.1:c.1802_1805del
NM_001407925.1:c.1802_1805del
NM_001407926.1:c.1802_1805del
NM_001407927.1:c.1802_1805del
NM_001407928.1:c.1802_1805del
NM_001407929.1:c.1802_1805del
NM_001407930.1:c.1799_1802del
NM_001407931.1:c.1799_1802del
NM_001407932.1:c.1799_1802del
NM_001407933.1:c.1802_1805del
NM_001407934.1:c.1799_1802del
NM_001407935.1:c.1802_1805del
NM_001407936.1:c.1799_1802del
NM_001407937.1:c.1943_1946del
NM_001407938.1:c.1943_1946del
NM_001407939.1:c.1943_1946del
NM_001407940.1:c.1940_1943del
NM_001407941.1:c.1940_1943del
NM_001407942.1:c.1925_1928del
NM_001407943.1:c.1922_1925del
NM_001407944.1:c.1925_1928del
NM_001407945.1:c.1925_1928del
NM_001407946.1:c.1733_1736del
NM_001407947.1:c.1733_1736del
NM_001407948.1:c.1733_1736del
NM_001407949.1:c.1733_1736del
NM_001407950.1:c.1733_1736del
NM_001407951.1:c.1733_1736del
NM_001407952.1:c.1733_1736del
NM_001407953.1:c.1733_1736del
NM_001407954.1:c.1730_1733del
NM_001407955.1:c.1730_1733del
NM_001407956.1:c.1730_1733del
NM_001407957.1:c.1733_1736del
NM_001407958.1:c.1730_1733del
NM_001407959.1:c.1685_1688del
NM_001407960.1:c.1685_1688del
NM_001407962.1:c.1682_1685del
NM_001407963.1:c.1685_1688del
NM_001407964.1:c.1922_1925del
NM_001407965.1:c.1562_1565del
NM_001407966.1:c.1178_1181del
NM_001407967.1:c.1178_1181del
NM_001407968.1:c.787+1279_787+1282del
NM_001407969.1:c.787+1279_787+1282del
NM_001407970.1:c.787+1279_787+1282del
NM_001407971.1:c.787+1279_787+1282del
NM_001407972.1:c.784+1279_784+1282del
NM_001407973.1:c.787+1279_787+1282del
NM_001407974.1:c.787+1279_787+1282del
NM_001407975.1:c.787+1279_787+1282del
NM_001407976.1:c.787+1279_787+1282del
NM_001407977.1:c.787+1279_787+1282del
NM_001407978.1:c.787+1279_787+1282del
NM_001407979.1:c.787+1279_787+1282del
NM_001407980.1:c.787+1279_787+1282del
NM_001407981.1:c.787+1279_787+1282del
NM_001407982.1:c.787+1279_787+1282del
NM_001407983.1:c.787+1279_787+1282del
NM_001407984.1:c.784+1279_784+1282del
NM_001407985.1:c.784+1279_784+1282del
NM_001407986.1:c.784+1279_784+1282del
NM_001407990.1:c.787+1279_787+1282del
NM_001407991.1:c.784+1279_784+1282del
NM_001407992.1:c.784+1279_784+1282del
NM_001407993.1:c.787+1279_787+1282del
NM_001408392.1:c.784+1279_784+1282del
NM_001408396.1:c.784+1279_784+1282del
NM_001408397.1:c.784+1279_784+1282del
NM_001408398.1:c.784+1279_784+1282del
NM_001408399.1:c.784+1279_784+1282del
NM_001408400.1:c.784+1279_784+1282del
NM_001408401.1:c.784+1279_784+1282del
NM_001408402.1:c.784+1279_784+1282del
NM_001408403.1:c.787+1279_787+1282del
NM_001408404.1:c.787+1279_787+1282del
NM_001408406.1:c.790+1276_790+1279del
NM_001408407.1:c.784+1279_784+1282del
NM_001408408.1:c.778+1279_778+1282del
NM_001408409.1:c.709+1279_709+1282del
NM_001408410.1:c.646+1279_646+1282del
NM_001408411.1:c.709+1279_709+1282del
NM_001408412.1:c.709+1279_709+1282del
NM_001408413.1:c.706+1279_706+1282del
NM_001408414.1:c.709+1279_709+1282del
NM_001408415.1:c.709+1279_709+1282del
NM_001408416.1:c.706+1279_706+1282del
NM_001408418.1:c.670+2381_670+2384del
NM_001408419.1:c.670+2381_670+2384del
NM_001408420.1:c.670+2381_670+2384del
NM_001408421.1:c.667+2381_667+2384del
NM_001408422.1:c.670+2381_670+2384del
NM_001408423.1:c.670+2381_670+2384del
NM_001408424.1:c.667+2381_667+2384del
NM_001408425.1:c.664+1279_664+1282del
NM_001408426.1:c.664+1279_664+1282del
NM_001408427.1:c.664+1279_664+1282del
NM_001408428.1:c.664+1279_664+1282del
NM_001408429.1:c.664+1279_664+1282del
NM_001408430.1:c.664+1279_664+1282del
NM_001408431.1:c.667+2381_667+2384del
NM_001408432.1:c.661+1279_661+1282del
NM_001408433.1:c.661+1279_661+1282del
NM_001408434.1:c.661+1279_661+1282del
NM_001408435.1:c.661+1279_661+1282del
NM_001408436.1:c.664+1279_664+1282del
NM_001408437.1:c.664+1279_664+1282del
NM_001408438.1:c.664+1279_664+1282del
NM_001408439.1:c.664+1279_664+1282del
NM_001408440.1:c.664+1279_664+1282del
NM_001408441.1:c.664+1279_664+1282del
NM_001408442.1:c.664+1279_664+1282del
NM_001408443.1:c.664+1279_664+1282del
NM_001408444.1:c.664+1279_664+1282del
NM_001408445.1:c.661+1279_661+1282del
NM_001408446.1:c.661+1279_661+1282del
NM_001408447.1:c.661+1279_661+1282del
NM_001408448.1:c.661+1279_661+1282del
NM_001408450.1:c.661+1279_661+1282del
NM_001408451.1:c.652+1279_652+1282del
NM_001408452.1:c.646+1279_646+1282del
NM_001408453.1:c.646+1279_646+1282del
NM_001408454.1:c.646+1279_646+1282del
NM_001408455.1:c.646+1279_646+1282del
NM_001408456.1:c.646+1279_646+1282del
NM_001408457.1:c.646+1279_646+1282del
NM_001408458.1:c.646+1279_646+1282del
NM_001408459.1:c.646+1279_646+1282del
NM_001408460.1:c.646+1279_646+1282del
NM_001408461.1:c.646+1279_646+1282del
NM_001408462.1:c.643+1279_643+1282del
NM_001408463.1:c.643+1279_643+1282del
NM_001408464.1:c.643+1279_643+1282del
NM_001408465.1:c.643+1279_643+1282del
NM_001408466.1:c.646+1279_646+1282del
NM_001408467.1:c.646+1279_646+1282del
NM_001408468.1:c.643+1279_643+1282del
NM_001408469.1:c.646+1279_646+1282del
NM_001408470.1:c.643+1279_643+1282del
NM_001408472.1:c.787+1279_787+1282del
NM_001408473.1:c.784+1279_784+1282del
NM_001408474.1:c.586+1279_586+1282del
NM_001408475.1:c.583+1279_583+1282del
NM_001408476.1:c.586+1279_586+1282del
NM_001408478.1:c.577+1279_577+1282del
NM_001408479.1:c.577+1279_577+1282del
NM_001408480.1:c.577+1279_577+1282del
NM_001408481.1:c.577+1279_577+1282del
NM_001408482.1:c.577+1279_577+1282del
NM_001408483.1:c.577+1279_577+1282del
NM_001408484.1:c.577+1279_577+1282del
NM_001408485.1:c.577+1279_577+1282del
NM_001408489.1:c.577+1279_577+1282del
NM_001408490.1:c.574+1279_574+1282del
NM_001408491.1:c.574+1279_574+1282del
NM_001408492.1:c.577+1279_577+1282del
NM_001408493.1:c.574+1279_574+1282del
NM_001408494.1:c.548-2433_548-2430del
NM_001408495.1:c.545-2433_545-2430del
NM_001408496.1:c.523+1279_523+1282del
NM_001408497.1:c.523+1279_523+1282del
NM_001408498.1:c.523+1279_523+1282del
NM_001408499.1:c.523+1279_523+1282del
NM_001408500.1:c.523+1279_523+1282del
NM_001408501.1:c.523+1279_523+1282del
NM_001408502.1:c.454+1279_454+1282del
NM_001408503.1:c.520+1279_520+1282del
NM_001408504.1:c.520+1279_520+1282del
NM_001408505.1:c.520+1279_520+1282del
NM_001408506.1:c.460+2381_460+2384del
NM_001408507.1:c.460+2381_460+2384del
NM_001408508.1:c.451+1279_451+1282del
NM_001408509.1:c.451+1279_451+1282del
NM_001408510.1:c.406+1279_406+1282del
NM_001408511.1:c.404-2433_404-2430del
NM_001408512.1:c.283+1279_283+1282del
NM_001408513.1:c.577+1279_577+1282del
NM_001408514.1:c.577+1279_577+1282del
NM_007294.4:c.2066_2069delMANE SELECT
NM_007297.4:c.1925_1928del
NM_007298.4:c.787+1279_787+1282del
NM_007299.4:c.787+1279_787+1282del
NM_007300.4:c.2066_2069del
NP_001394500.1:p.Ser618fs
NP_001394510.1:p.Ser689fs
NP_001394511.1:p.Ser689fs
NP_001394512.1:p.Ser689fs
NP_001394514.1:p.Ser689fs
NP_001394516.1:p.Ser688fs
NP_001394519.1:p.Ser688fs
NP_001394520.1:p.Ser688fs
NP_001394522.1:p.Ser689fs
NP_001394523.1:p.Ser689fs
NP_001394525.1:p.Ser689fs
NP_001394526.1:p.Ser689fs
NP_001394527.1:p.Ser689fs
NP_001394531.1:p.Ser689fs
NP_001394532.1:p.Ser689fs
NP_001394534.1:p.Ser689fs
NP_001394539.1:p.Ser688fs
NP_001394540.1:p.Ser688fs
NP_001394541.1:p.Ser688fs
NP_001394542.1:p.Ser688fs
NP_001394543.1:p.Ser688fs
NP_001394544.1:p.Ser688fs
NP_001394545.1:p.Ser689fs
NP_001394546.1:p.Ser689fs
NP_001394547.1:p.Ser689fs
NP_001394548.1:p.Ser689fs
NP_001394549.1:p.Ser689fs
NP_001394550.1:p.Ser689fs
NP_001394551.1:p.Ser689fs
NP_001394552.1:p.Ser689fs
NP_001394553.1:p.Ser689fs
NP_001394554.1:p.Ser689fs
NP_001394555.1:p.Ser689fs
NP_001394556.1:p.Ser688fs
NP_001394557.1:p.Ser688fs
NP_001394558.1:p.Ser688fs
NP_001394559.1:p.Ser688fs
NP_001394560.1:p.Ser688fs
NP_001394561.1:p.Ser688fs
NP_001394562.1:p.Ser688fs
NP_001394563.1:p.Ser688fs
NP_001394564.1:p.Ser688fs
NP_001394565.1:p.Ser688fs
NP_001394566.1:p.Ser688fs
NP_001394567.1:p.Ser688fs
NP_001394568.1:p.Ser689fs
NP_001394569.1:p.Ser689fs
NP_001394570.1:p.Ser689fs
NP_001394571.1:p.Ser689fs
NP_001394573.1:p.Ser688fs
NP_001394574.1:p.Ser688fs
NP_001394575.1:p.Ser686fs
NP_001394576.1:p.Ser686fs
NP_001394577.1:p.Ser648fs
NP_001394578.1:p.Ser647fs
NP_001394581.1:p.Ser689fs
NP_001394582.1:p.Ser663fs
NP_001394583.1:p.Ser663fs
NP_001394584.1:p.Ser663fs
NP_001394585.1:p.Ser663fs
NP_001394586.1:p.Ser663fs
NP_001394587.1:p.Ser663fs
NP_001394588.1:p.Ser662fs
NP_001394589.1:p.Ser662fs
NP_001394590.1:p.Ser662fs
NP_001394591.1:p.Ser662fs
NP_001394592.1:p.Ser663fs
NP_001394593.1:p.Ser648fs
NP_001394594.1:p.Ser648fs
NP_001394595.1:p.Ser648fs
NP_001394596.1:p.Ser648fs
NP_001394597.1:p.Ser648fs
NP_001394598.1:p.Ser648fs
NP_001394599.1:p.Ser647fs
NP_001394600.1:p.Ser647fs
NP_001394601.1:p.Ser647fs
NP_001394602.1:p.Ser647fs
NP_001394603.1:p.Ser648fs
NP_001394604.1:p.Ser648fs
NP_001394605.1:p.Ser648fs
NP_001394606.1:p.Ser648fs
NP_001394607.1:p.Ser648fs
NP_001394608.1:p.Ser648fs
NP_001394609.1:p.Ser648fs
NP_001394610.1:p.Ser648fs
NP_001394611.1:p.Ser648fs
NP_001394612.1:p.Ser648fs
NP_001394613.1:p.Ser689fs
NP_001394614.1:p.Ser647fs
NP_001394615.1:p.Ser647fs
NP_001394616.1:p.Ser647fs
NP_001394617.1:p.Ser647fs
NP_001394618.1:p.Ser647fs
NP_001394619.1:p.Ser647fs
NP_001394620.1:p.Ser647fs
NP_001394621.1:p.Ser642fs
NP_001394623.1:p.Ser642fs
NP_001394624.1:p.Ser642fs
NP_001394625.1:p.Ser642fs
NP_001394626.1:p.Ser642fs
NP_001394627.1:p.Ser642fs
NP_001394653.1:p.Ser642fs
NP_001394654.1:p.Ser642fs
NP_001394655.1:p.Ser642fs
NP_001394656.1:p.Ser642fs
NP_001394657.1:p.Ser642fs
NP_001394658.1:p.Ser642fs
NP_001394659.1:p.Ser642fs
NP_001394660.1:p.Ser642fs
NP_001394661.1:p.Ser642fs
NP_001394662.1:p.Ser642fs
NP_001394663.1:p.Ser642fs
NP_001394664.1:p.Ser642fs
NP_001394665.1:p.Ser642fs
NP_001394666.1:p.Ser642fs
NP_001394667.1:p.Ser642fs
NP_001394668.1:p.Ser642fs
NP_001394669.1:p.Ser641fs
NP_001394670.1:p.Ser641fs
NP_001394671.1:p.Ser641fs
NP_001394672.1:p.Ser641fs
NP_001394673.1:p.Ser641fs
NP_001394674.1:p.Ser641fs
NP_001394675.1:p.Ser641fs
NP_001394676.1:p.Ser641fs
NP_001394677.1:p.Ser641fs
NP_001394678.1:p.Ser641fs
NP_001394679.1:p.Ser642fs
NP_001394680.1:p.Ser642fs
NP_001394681.1:p.Ser642fs
NP_001394767.1:p.Ser641fs
NP_001394768.1:p.Ser641fs
NP_001394770.1:p.Ser641fs
NP_001394771.1:p.Ser641fs
NP_001394772.1:p.Ser641fs
NP_001394773.1:p.Ser641fs
NP_001394774.1:p.Ser641fs
NP_001394775.1:p.Ser641fs
NP_001394776.1:p.Ser641fs
NP_001394777.1:p.Ser641fs
NP_001394778.1:p.Ser641fs
NP_001394779.1:p.Ser642fs
NP_001394780.1:p.Ser642fs
NP_001394781.1:p.Ser642fs
NP_001394782.1:p.Ser618fs
NP_001394783.1:p.Ser689fs
NP_001394787.1:p.Ser689fs
NP_001394788.1:p.Ser689fs
NP_001394789.1:p.Ser688fs
NP_001394790.1:p.Ser688fs
NP_001394791.1:p.Ser622fs
NP_001394792.1:p.Ser648fs
NP_001394803.1:p.Ser621fs
NP_001394804.1:p.Ser621fs
NP_001394808.1:p.Ser619fs
NP_001394810.1:p.Ser619fs
NP_001394811.1:p.Ser619fs
NP_001394813.1:p.Ser619fs
NP_001394814.1:p.Ser619fs
NP_001394815.1:p.Ser619fs
NP_001394816.1:p.Ser619fs
NP_001394818.1:p.Ser619fs
NP_001394823.1:p.Ser618fs
NP_001394824.1:p.Ser618fs
NP_001394825.1:p.Ser618fs
NP_001394826.1:p.Ser618fs
NP_001394827.1:p.Ser618fs
NP_001394828.1:p.Ser618fs
NP_001394829.1:p.Ser619fs
NP_001394831.1:p.Ser619fs
NP_001394833.1:p.Ser619fs
NP_001394835.1:p.Ser619fs
NP_001394836.1:p.Ser619fs
NP_001394837.1:p.Ser619fs
NP_001394838.1:p.Ser619fs
NP_001394839.1:p.Ser619fs
NP_001394844.1:p.Ser618fs
NP_001394845.1:p.Ser618fs
NP_001394846.1:p.Ser618fs
NP_001394847.1:p.Ser618fs
NP_001394848.1:p.Ser648fs
NP_001394849.1:p.Ser601fs
NP_001394850.1:p.Ser601fs
NP_001394851.1:p.Ser601fs
NP_001394852.1:p.Ser601fs
NP_001394853.1:p.Ser601fs
NP_001394854.1:p.Ser601fs
NP_001394855.1:p.Ser601fs
NP_001394856.1:p.Ser601fs
NP_001394857.1:p.Ser601fs
NP_001394858.1:p.Ser601fs
NP_001394859.1:p.Ser600fs
NP_001394860.1:p.Ser600fs
NP_001394861.1:p.Ser600fs
NP_001394862.1:p.Ser601fs
NP_001394863.1:p.Ser600fs
NP_001394864.1:p.Ser601fs
NP_001394865.1:p.Ser600fs
NP_001394866.1:p.Ser648fs
NP_001394867.1:p.Ser648fs
NP_001394868.1:p.Ser648fs
NP_001394869.1:p.Ser647fs
NP_001394870.1:p.Ser647fs
NP_001394871.1:p.Ser642fs
NP_001394872.1:p.Ser641fs
NP_001394873.1:p.Ser642fs
NP_001394874.1:p.Ser642fs
NP_001394875.1:p.Ser578fs
NP_001394876.1:p.Ser578fs
NP_001394877.1:p.Ser578fs
NP_001394878.1:p.Ser578fs
NP_001394879.1:p.Ser578fs
NP_001394880.1:p.Ser578fs
NP_001394881.1:p.Ser578fs
NP_001394882.1:p.Ser578fs
NP_001394883.1:p.Ser577fs
NP_001394884.1:p.Ser577fs
NP_001394885.1:p.Ser577fs
NP_001394886.1:p.Ser578fs
NP_001394887.1:p.Ser577fs
NP_001394888.1:p.Ser562fs
NP_001394889.1:p.Ser562fs
NP_001394891.1:p.Ser561fs
NP_001394892.1:p.Ser562fs
NP_001394893.1:p.Ser641fs
NP_001394894.1:p.Ser521fs
NP_001394895.1:p.Ser393fs
NP_001394896.1:p.Ser393fs
NP_009225.1:p.Ser689Lysfs
NP_009225.1:p.Ser689fs
NP_009228.2:p.Ser642fs
NP_009231.2:p.Ser689fs
LRG_292t1:c.2064_2067del
LRG_292:g.124519_124522del
LRG_292p1:p.Ser689Lysfs
NC_000017.10:g.41245481_41245484del
NM_007294.3:c.2064_2067delAAGT
NM_007294.3:c.2066_2069delGTAA
NR_027676.1:n.2200_2203delAAGT

Protein change:

S393fs

Links:

dbSNP: rs886037994

NCBI 1000 Genomes Browser:

rs886037994

Molecular consequence:

NM_001407571.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2057_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2057_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1985_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1985_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1985_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1985_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1988_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2063_2066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1865_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1862_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1862_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1856_1859del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1853_1856del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1799_1802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1799_1802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1799_1802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1799_1802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1802_1805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1799_1802del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1943_1946del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1940_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1730_1733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1730_1733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1730_1733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1733_1736del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1730_1733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1685_1688del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1685_1688del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1682_1685del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1685_1688del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1922_1925del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1562_1565del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1178_1181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1178_1181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1925_1928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2066_2069del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1276_790+1279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1279_778+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1279_709+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1279_709+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1279_709+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1279_706+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1279_709+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1279_709+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1279_706+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2381_670+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2381_670+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2381_670+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2381_667+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2381_670+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2381_670+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2381_667+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2381_667+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1279_664+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1279_661+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1279_652+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1279_646+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1279_643+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1279_784+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1279_586+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1279_583+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1279_586+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1279_574+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1279_574+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1279_574+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2433_548-2430del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2433_545-2430del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1279_523+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1279_454+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1279_520+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1279_520+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1279_520+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2381_460+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2381_460+2384del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1279_451+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1279_451+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1279_406+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2433_404-2430del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1279_283+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1279_577+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1279_787+1282del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299692	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325221	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV001190247	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 16, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299692

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325221

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)

Pathogenic
(Oct 2, 2015)

germline

clinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV001190247

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 16, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	2	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]

PMID:: 25741869

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299692.2

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

Description

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

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325221.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	2	not provided

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190247.1

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

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

Last Updated: Jun 23, 2024

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