NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (7 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:: RCV000111789.22

Allele description [Variation Report for NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)]

NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)

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.2197_2201del (p.Glu733fs)

Other names:

2316del5; 2312del5; 2313del5; 2314del5

HGVS:

NC_000017.10:g.41245347_41245351del
NC_000017.11:g.43093334_43093338del
NG_005905.2:g.124650_124654del
NM_001407571.1:c.1984_1988del
NM_001407581.1:c.2197_2201del
NM_001407582.1:c.2197_2201del
NM_001407583.1:c.2197_2201del
NM_001407585.1:c.2197_2201del
NM_001407587.1:c.2194_2198del
NM_001407590.1:c.2194_2198del
NM_001407591.1:c.2194_2198del
NM_001407593.1:c.2197_2201del
NM_001407594.1:c.2197_2201del
NM_001407596.1:c.2197_2201del
NM_001407597.1:c.2197_2201del
NM_001407598.1:c.2197_2201del
NM_001407602.1:c.2197_2201del
NM_001407603.1:c.2197_2201del
NM_001407605.1:c.2197_2201del
NM_001407610.1:c.2194_2198del
NM_001407611.1:c.2194_2198del
NM_001407612.1:c.2194_2198del
NM_001407613.1:c.2194_2198del
NM_001407614.1:c.2194_2198del
NM_001407615.1:c.2194_2198del
NM_001407616.1:c.2197_2201del
NM_001407617.1:c.2197_2201del
NM_001407618.1:c.2197_2201del
NM_001407619.1:c.2197_2201del
NM_001407620.1:c.2197_2201del
NM_001407621.1:c.2197_2201del
NM_001407622.1:c.2197_2201del
NM_001407623.1:c.2197_2201del
NM_001407624.1:c.2197_2201del
NM_001407625.1:c.2197_2201del
NM_001407626.1:c.2197_2201del
NM_001407627.1:c.2194_2198del
NM_001407628.1:c.2194_2198del
NM_001407629.1:c.2194_2198del
NM_001407630.1:c.2194_2198del
NM_001407631.1:c.2194_2198del
NM_001407632.1:c.2194_2198del
NM_001407633.1:c.2194_2198del
NM_001407634.1:c.2194_2198del
NM_001407635.1:c.2194_2198del
NM_001407636.1:c.2194_2198del
NM_001407637.1:c.2194_2198del
NM_001407638.1:c.2194_2198del
NM_001407639.1:c.2197_2201del
NM_001407640.1:c.2197_2201del
NM_001407641.1:c.2197_2201del
NM_001407642.1:c.2197_2201del
NM_001407644.1:c.2194_2198del
NM_001407645.1:c.2194_2198del
NM_001407646.1:c.2188_2192del
NM_001407647.1:c.2188_2192del
NM_001407648.1:c.2074_2078del
NM_001407649.1:c.2071_2075del
NM_001407652.1:c.2197_2201del
NM_001407653.1:c.2119_2123del
NM_001407654.1:c.2119_2123del
NM_001407655.1:c.2119_2123del
NM_001407656.1:c.2119_2123del
NM_001407657.1:c.2119_2123del
NM_001407658.1:c.2119_2123del
NM_001407659.1:c.2116_2120del
NM_001407660.1:c.2116_2120del
NM_001407661.1:c.2116_2120del
NM_001407662.1:c.2116_2120del
NM_001407663.1:c.2119_2123del
NM_001407664.1:c.2074_2078del
NM_001407665.1:c.2074_2078del
NM_001407666.1:c.2074_2078del
NM_001407667.1:c.2074_2078del
NM_001407668.1:c.2074_2078del
NM_001407669.1:c.2074_2078del
NM_001407670.1:c.2071_2075del
NM_001407671.1:c.2071_2075del
NM_001407672.1:c.2071_2075del
NM_001407673.1:c.2071_2075del
NM_001407674.1:c.2074_2078del
NM_001407675.1:c.2074_2078del
NM_001407676.1:c.2074_2078del
NM_001407677.1:c.2074_2078del
NM_001407678.1:c.2074_2078del
NM_001407679.1:c.2074_2078del
NM_001407680.1:c.2074_2078del
NM_001407681.1:c.2074_2078del
NM_001407682.1:c.2074_2078del
NM_001407683.1:c.2074_2078del
NM_001407684.1:c.2197_2201del
NM_001407685.1:c.2071_2075del
NM_001407686.1:c.2071_2075del
NM_001407687.1:c.2071_2075del
NM_001407688.1:c.2071_2075del
NM_001407689.1:c.2071_2075del
NM_001407690.1:c.2071_2075del
NM_001407691.1:c.2071_2075del
NM_001407692.1:c.2056_2060del
NM_001407694.1:c.2056_2060del
NM_001407695.1:c.2056_2060del
NM_001407696.1:c.2056_2060del
NM_001407697.1:c.2056_2060del
NM_001407698.1:c.2056_2060del
NM_001407724.1:c.2056_2060del
NM_001407725.1:c.2056_2060del
NM_001407726.1:c.2056_2060del
NM_001407727.1:c.2056_2060del
NM_001407728.1:c.2056_2060del
NM_001407729.1:c.2056_2060del
NM_001407730.1:c.2056_2060del
NM_001407731.1:c.2056_2060del
NM_001407732.1:c.2056_2060del
NM_001407733.1:c.2056_2060del
NM_001407734.1:c.2056_2060del
NM_001407735.1:c.2056_2060del
NM_001407736.1:c.2056_2060del
NM_001407737.1:c.2056_2060del
NM_001407738.1:c.2056_2060del
NM_001407739.1:c.2056_2060del
NM_001407740.1:c.2053_2057del
NM_001407741.1:c.2053_2057del
NM_001407742.1:c.2053_2057del
NM_001407743.1:c.2053_2057del
NM_001407744.1:c.2053_2057del
NM_001407745.1:c.2053_2057del
NM_001407746.1:c.2053_2057del
NM_001407747.1:c.2053_2057del
NM_001407748.1:c.2053_2057del
NM_001407749.1:c.2053_2057del
NM_001407750.1:c.2056_2060del
NM_001407751.1:c.2056_2060del
NM_001407752.1:c.2056_2060del
NM_001407838.1:c.2053_2057del
NM_001407839.1:c.2053_2057del
NM_001407841.1:c.2053_2057del
NM_001407842.1:c.2053_2057del
NM_001407843.1:c.2053_2057del
NM_001407844.1:c.2053_2057del
NM_001407845.1:c.2053_2057del
NM_001407846.1:c.2053_2057del
NM_001407847.1:c.2053_2057del
NM_001407848.1:c.2053_2057del
NM_001407849.1:c.2053_2057del
NM_001407850.1:c.2056_2060del
NM_001407851.1:c.2056_2060del
NM_001407852.1:c.2056_2060del
NM_001407853.1:c.1984_1988del
NM_001407854.1:c.2197_2201del
NM_001407858.1:c.2197_2201del
NM_001407859.1:c.2197_2201del
NM_001407860.1:c.2194_2198del
NM_001407861.1:c.2194_2198del
NM_001407862.1:c.1996_2000del
NM_001407863.1:c.2074_2078del
NM_001407874.1:c.1993_1997del
NM_001407875.1:c.1993_1997del
NM_001407879.1:c.1987_1991del
NM_001407881.1:c.1987_1991del
NM_001407882.1:c.1987_1991del
NM_001407884.1:c.1987_1991del
NM_001407885.1:c.1987_1991del
NM_001407886.1:c.1987_1991del
NM_001407887.1:c.1987_1991del
NM_001407889.1:c.1987_1991del
NM_001407894.1:c.1984_1988del
NM_001407895.1:c.1984_1988del
NM_001407896.1:c.1984_1988del
NM_001407897.1:c.1984_1988del
NM_001407898.1:c.1984_1988del
NM_001407899.1:c.1984_1988del
NM_001407900.1:c.1987_1991del
NM_001407902.1:c.1987_1991del
NM_001407904.1:c.1987_1991del
NM_001407906.1:c.1987_1991del
NM_001407907.1:c.1987_1991del
NM_001407908.1:c.1987_1991del
NM_001407909.1:c.1987_1991del
NM_001407910.1:c.1987_1991del
NM_001407915.1:c.1984_1988del
NM_001407916.1:c.1984_1988del
NM_001407917.1:c.1984_1988del
NM_001407918.1:c.1984_1988del
NM_001407919.1:c.2074_2078del
NM_001407920.1:c.1933_1937del
NM_001407921.1:c.1933_1937del
NM_001407922.1:c.1933_1937del
NM_001407923.1:c.1933_1937del
NM_001407924.1:c.1933_1937del
NM_001407925.1:c.1933_1937del
NM_001407926.1:c.1933_1937del
NM_001407927.1:c.1933_1937del
NM_001407928.1:c.1933_1937del
NM_001407929.1:c.1933_1937del
NM_001407930.1:c.1930_1934del
NM_001407931.1:c.1930_1934del
NM_001407932.1:c.1930_1934del
NM_001407933.1:c.1933_1937del
NM_001407934.1:c.1930_1934del
NM_001407935.1:c.1933_1937del
NM_001407936.1:c.1930_1934del
NM_001407937.1:c.2074_2078del
NM_001407938.1:c.2074_2078del
NM_001407939.1:c.2074_2078del
NM_001407940.1:c.2071_2075del
NM_001407941.1:c.2071_2075del
NM_001407942.1:c.2056_2060del
NM_001407943.1:c.2053_2057del
NM_001407944.1:c.2056_2060del
NM_001407945.1:c.2056_2060del
NM_001407946.1:c.1864_1868del
NM_001407947.1:c.1864_1868del
NM_001407948.1:c.1864_1868del
NM_001407949.1:c.1864_1868del
NM_001407950.1:c.1864_1868del
NM_001407951.1:c.1864_1868del
NM_001407952.1:c.1864_1868del
NM_001407953.1:c.1864_1868del
NM_001407954.1:c.1861_1865del
NM_001407955.1:c.1861_1865del
NM_001407956.1:c.1861_1865del
NM_001407957.1:c.1864_1868del
NM_001407958.1:c.1861_1865del
NM_001407959.1:c.1816_1820del
NM_001407960.1:c.1816_1820del
NM_001407962.1:c.1813_1817del
NM_001407963.1:c.1816_1820del
NM_001407964.1:c.2053_2057del
NM_001407965.1:c.1693_1697del
NM_001407966.1:c.1309_1313del
NM_001407967.1:c.1309_1313del
NM_001407968.1:c.788-1195_788-1191del
NM_001407969.1:c.788-1195_788-1191del
NM_001407970.1:c.787+1410_787+1414del
NM_001407971.1:c.787+1410_787+1414del
NM_001407972.1:c.784+1410_784+1414del
NM_001407973.1:c.787+1410_787+1414del
NM_001407974.1:c.787+1410_787+1414del
NM_001407975.1:c.787+1410_787+1414del
NM_001407976.1:c.787+1410_787+1414del
NM_001407977.1:c.787+1410_787+1414del
NM_001407978.1:c.787+1410_787+1414del
NM_001407979.1:c.787+1410_787+1414del
NM_001407980.1:c.787+1410_787+1414del
NM_001407981.1:c.787+1410_787+1414del
NM_001407982.1:c.787+1410_787+1414del
NM_001407983.1:c.787+1410_787+1414del
NM_001407984.1:c.784+1410_784+1414del
NM_001407985.1:c.784+1410_784+1414del
NM_001407986.1:c.784+1410_784+1414del
NM_001407990.1:c.787+1410_787+1414del
NM_001407991.1:c.784+1410_784+1414del
NM_001407992.1:c.784+1410_784+1414del
NM_001407993.1:c.787+1410_787+1414del
NM_001408392.1:c.784+1410_784+1414del
NM_001408396.1:c.784+1410_784+1414del
NM_001408397.1:c.784+1410_784+1414del
NM_001408398.1:c.784+1410_784+1414del
NM_001408399.1:c.784+1410_784+1414del
NM_001408400.1:c.784+1410_784+1414del
NM_001408401.1:c.784+1410_784+1414del
NM_001408402.1:c.784+1410_784+1414del
NM_001408403.1:c.787+1410_787+1414del
NM_001408404.1:c.787+1410_787+1414del
NM_001408406.1:c.790+1407_790+1411del
NM_001408407.1:c.784+1410_784+1414del
NM_001408408.1:c.778+1410_778+1414del
NM_001408409.1:c.709+1410_709+1414del
NM_001408410.1:c.646+1410_646+1414del
NM_001408411.1:c.709+1410_709+1414del
NM_001408412.1:c.709+1410_709+1414del
NM_001408413.1:c.706+1410_706+1414del
NM_001408414.1:c.709+1410_709+1414del
NM_001408415.1:c.709+1410_709+1414del
NM_001408416.1:c.706+1410_706+1414del
NM_001408418.1:c.671-2302_671-2298del
NM_001408419.1:c.671-2302_671-2298del
NM_001408420.1:c.671-2302_671-2298del
NM_001408421.1:c.668-2302_668-2298del
NM_001408422.1:c.671-2302_671-2298del
NM_001408423.1:c.671-2302_671-2298del
NM_001408424.1:c.668-2302_668-2298del
NM_001408425.1:c.664+1410_664+1414del
NM_001408426.1:c.664+1410_664+1414del
NM_001408427.1:c.664+1410_664+1414del
NM_001408428.1:c.664+1410_664+1414del
NM_001408429.1:c.664+1410_664+1414del
NM_001408430.1:c.664+1410_664+1414del
NM_001408431.1:c.668-2302_668-2298del
NM_001408432.1:c.661+1410_661+1414del
NM_001408433.1:c.661+1410_661+1414del
NM_001408434.1:c.661+1410_661+1414del
NM_001408435.1:c.661+1410_661+1414del
NM_001408436.1:c.664+1410_664+1414del
NM_001408437.1:c.664+1410_664+1414del
NM_001408438.1:c.664+1410_664+1414del
NM_001408439.1:c.664+1410_664+1414del
NM_001408440.1:c.664+1410_664+1414del
NM_001408441.1:c.664+1410_664+1414del
NM_001408442.1:c.664+1410_664+1414del
NM_001408443.1:c.664+1410_664+1414del
NM_001408444.1:c.664+1410_664+1414del
NM_001408445.1:c.661+1410_661+1414del
NM_001408446.1:c.661+1410_661+1414del
NM_001408447.1:c.661+1410_661+1414del
NM_001408448.1:c.661+1410_661+1414del
NM_001408450.1:c.661+1410_661+1414del
NM_001408451.1:c.652+1410_652+1414del
NM_001408452.1:c.646+1410_646+1414del
NM_001408453.1:c.646+1410_646+1414del
NM_001408454.1:c.646+1410_646+1414del
NM_001408455.1:c.646+1410_646+1414del
NM_001408456.1:c.646+1410_646+1414del
NM_001408457.1:c.646+1410_646+1414del
NM_001408458.1:c.646+1410_646+1414del
NM_001408459.1:c.646+1410_646+1414del
NM_001408460.1:c.646+1410_646+1414del
NM_001408461.1:c.646+1410_646+1414del
NM_001408462.1:c.643+1410_643+1414del
NM_001408463.1:c.643+1410_643+1414del
NM_001408464.1:c.643+1410_643+1414del
NM_001408465.1:c.643+1410_643+1414del
NM_001408466.1:c.646+1410_646+1414del
NM_001408467.1:c.646+1410_646+1414del
NM_001408468.1:c.643+1410_643+1414del
NM_001408469.1:c.646+1410_646+1414del
NM_001408470.1:c.643+1410_643+1414del
NM_001408472.1:c.787+1410_787+1414del
NM_001408473.1:c.784+1410_784+1414del
NM_001408474.1:c.586+1410_586+1414del
NM_001408475.1:c.583+1410_583+1414del
NM_001408476.1:c.586+1410_586+1414del
NM_001408478.1:c.577+1410_577+1414del
NM_001408479.1:c.577+1410_577+1414del
NM_001408480.1:c.577+1410_577+1414del
NM_001408481.1:c.577+1410_577+1414del
NM_001408482.1:c.577+1410_577+1414del
NM_001408483.1:c.577+1410_577+1414del
NM_001408484.1:c.577+1410_577+1414del
NM_001408485.1:c.577+1410_577+1414del
NM_001408489.1:c.577+1410_577+1414del
NM_001408490.1:c.574+1410_574+1414del
NM_001408491.1:c.574+1410_574+1414del
NM_001408492.1:c.577+1410_577+1414del
NM_001408493.1:c.574+1410_574+1414del
NM_001408494.1:c.548-2302_548-2298del
NM_001408495.1:c.545-2302_545-2298del
NM_001408496.1:c.523+1410_523+1414del
NM_001408497.1:c.523+1410_523+1414del
NM_001408498.1:c.523+1410_523+1414del
NM_001408499.1:c.523+1410_523+1414del
NM_001408500.1:c.523+1410_523+1414del
NM_001408501.1:c.523+1410_523+1414del
NM_001408502.1:c.454+1410_454+1414del
NM_001408503.1:c.520+1410_520+1414del
NM_001408504.1:c.520+1410_520+1414del
NM_001408505.1:c.520+1410_520+1414del
NM_001408506.1:c.461-2302_461-2298del
NM_001408507.1:c.461-2302_461-2298del
NM_001408508.1:c.451+1410_451+1414del
NM_001408509.1:c.451+1410_451+1414del
NM_001408510.1:c.406+1410_406+1414del
NM_001408511.1:c.404-2302_404-2298del
NM_001408512.1:c.283+1410_283+1414del
NM_001408513.1:c.577+1410_577+1414del
NM_001408514.1:c.577+1410_577+1414del
NM_007294.4:c.2197_2201delMANE SELECT
NM_007297.4:c.2056_2060del
NM_007298.4:c.787+1410_787+1414del
NM_007299.4:c.787+1410_787+1414del
NM_007300.4:c.2197_2201del
NP_001394500.1:p.Glu662fs
NP_001394510.1:p.Glu733fs
NP_001394511.1:p.Glu733fs
NP_001394512.1:p.Glu733fs
NP_001394514.1:p.Glu733fs
NP_001394516.1:p.Glu732fs
NP_001394519.1:p.Glu732fs
NP_001394520.1:p.Glu732fs
NP_001394522.1:p.Glu733fs
NP_001394523.1:p.Glu733fs
NP_001394525.1:p.Glu733fs
NP_001394526.1:p.Glu733fs
NP_001394527.1:p.Glu733fs
NP_001394531.1:p.Glu733fs
NP_001394532.1:p.Glu733fs
NP_001394534.1:p.Glu733fs
NP_001394539.1:p.Glu732fs
NP_001394540.1:p.Glu732fs
NP_001394541.1:p.Glu732fs
NP_001394542.1:p.Glu732fs
NP_001394543.1:p.Glu732fs
NP_001394544.1:p.Glu732fs
NP_001394545.1:p.Glu733fs
NP_001394546.1:p.Glu733fs
NP_001394547.1:p.Glu733fs
NP_001394548.1:p.Glu733fs
NP_001394549.1:p.Glu733fs
NP_001394550.1:p.Glu733fs
NP_001394551.1:p.Glu733fs
NP_001394552.1:p.Glu733fs
NP_001394553.1:p.Glu733fs
NP_001394554.1:p.Glu733fs
NP_001394555.1:p.Glu733fs
NP_001394556.1:p.Glu732fs
NP_001394557.1:p.Glu732fs
NP_001394558.1:p.Glu732fs
NP_001394559.1:p.Glu732fs
NP_001394560.1:p.Glu732fs
NP_001394561.1:p.Glu732fs
NP_001394562.1:p.Glu732fs
NP_001394563.1:p.Glu732fs
NP_001394564.1:p.Glu732fs
NP_001394565.1:p.Glu732fs
NP_001394566.1:p.Glu732fs
NP_001394567.1:p.Glu732fs
NP_001394568.1:p.Glu733fs
NP_001394569.1:p.Glu733fs
NP_001394570.1:p.Glu733fs
NP_001394571.1:p.Glu733fs
NP_001394573.1:p.Glu732fs
NP_001394574.1:p.Glu732fs
NP_001394575.1:p.Glu730fs
NP_001394576.1:p.Glu730fs
NP_001394577.1:p.Glu692fs
NP_001394578.1:p.Glu691fs
NP_001394581.1:p.Glu733fs
NP_001394582.1:p.Glu707fs
NP_001394583.1:p.Glu707fs
NP_001394584.1:p.Glu707fs
NP_001394585.1:p.Glu707fs
NP_001394586.1:p.Glu707fs
NP_001394587.1:p.Glu707fs
NP_001394588.1:p.Glu706fs
NP_001394589.1:p.Glu706fs
NP_001394590.1:p.Glu706fs
NP_001394591.1:p.Glu706fs
NP_001394592.1:p.Glu707fs
NP_001394593.1:p.Glu692fs
NP_001394594.1:p.Glu692fs
NP_001394595.1:p.Glu692fs
NP_001394596.1:p.Glu692fs
NP_001394597.1:p.Glu692fs
NP_001394598.1:p.Glu692fs
NP_001394599.1:p.Glu691fs
NP_001394600.1:p.Glu691fs
NP_001394601.1:p.Glu691fs
NP_001394602.1:p.Glu691fs
NP_001394603.1:p.Glu692fs
NP_001394604.1:p.Glu692fs
NP_001394605.1:p.Glu692fs
NP_001394606.1:p.Glu692fs
NP_001394607.1:p.Glu692fs
NP_001394608.1:p.Glu692fs
NP_001394609.1:p.Glu692fs
NP_001394610.1:p.Glu692fs
NP_001394611.1:p.Glu692fs
NP_001394612.1:p.Glu692fs
NP_001394613.1:p.Glu733fs
NP_001394614.1:p.Glu691fs
NP_001394615.1:p.Glu691fs
NP_001394616.1:p.Glu691fs
NP_001394617.1:p.Glu691fs
NP_001394618.1:p.Glu691fs
NP_001394619.1:p.Glu691fs
NP_001394620.1:p.Glu691fs
NP_001394621.1:p.Glu686fs
NP_001394623.1:p.Glu686fs
NP_001394624.1:p.Glu686fs
NP_001394625.1:p.Glu686fs
NP_001394626.1:p.Glu686fs
NP_001394627.1:p.Glu686fs
NP_001394653.1:p.Glu686fs
NP_001394654.1:p.Glu686fs
NP_001394655.1:p.Glu686fs
NP_001394656.1:p.Glu686fs
NP_001394657.1:p.Glu686fs
NP_001394658.1:p.Glu686fs
NP_001394659.1:p.Glu686fs
NP_001394660.1:p.Glu686fs
NP_001394661.1:p.Glu686fs
NP_001394662.1:p.Glu686fs
NP_001394663.1:p.Glu686fs
NP_001394664.1:p.Glu686fs
NP_001394665.1:p.Glu686fs
NP_001394666.1:p.Glu686fs
NP_001394667.1:p.Glu686fs
NP_001394668.1:p.Glu686fs
NP_001394669.1:p.Glu685fs
NP_001394670.1:p.Glu685fs
NP_001394671.1:p.Glu685fs
NP_001394672.1:p.Glu685fs
NP_001394673.1:p.Glu685fs
NP_001394674.1:p.Glu685fs
NP_001394675.1:p.Glu685fs
NP_001394676.1:p.Glu685fs
NP_001394677.1:p.Glu685fs
NP_001394678.1:p.Glu685fs
NP_001394679.1:p.Glu686fs
NP_001394680.1:p.Glu686fs
NP_001394681.1:p.Glu686fs
NP_001394767.1:p.Glu685fs
NP_001394768.1:p.Glu685fs
NP_001394770.1:p.Glu685fs
NP_001394771.1:p.Glu685fs
NP_001394772.1:p.Glu685fs
NP_001394773.1:p.Glu685fs
NP_001394774.1:p.Glu685fs
NP_001394775.1:p.Glu685fs
NP_001394776.1:p.Glu685fs
NP_001394777.1:p.Glu685fs
NP_001394778.1:p.Glu685fs
NP_001394779.1:p.Glu686fs
NP_001394780.1:p.Glu686fs
NP_001394781.1:p.Glu686fs
NP_001394782.1:p.Glu662fs
NP_001394783.1:p.Glu733fs
NP_001394787.1:p.Glu733fs
NP_001394788.1:p.Glu733fs
NP_001394789.1:p.Glu732fs
NP_001394790.1:p.Glu732fs
NP_001394791.1:p.Glu666fs
NP_001394792.1:p.Glu692fs
NP_001394803.1:p.Glu665fs
NP_001394804.1:p.Glu665fs
NP_001394808.1:p.Glu663fs
NP_001394810.1:p.Glu663fs
NP_001394811.1:p.Glu663fs
NP_001394813.1:p.Glu663fs
NP_001394814.1:p.Glu663fs
NP_001394815.1:p.Glu663fs
NP_001394816.1:p.Glu663fs
NP_001394818.1:p.Glu663fs
NP_001394823.1:p.Glu662fs
NP_001394824.1:p.Glu662fs
NP_001394825.1:p.Glu662fs
NP_001394826.1:p.Glu662fs
NP_001394827.1:p.Glu662fs
NP_001394828.1:p.Glu662fs
NP_001394829.1:p.Glu663fs
NP_001394831.1:p.Glu663fs
NP_001394833.1:p.Glu663fs
NP_001394835.1:p.Glu663fs
NP_001394836.1:p.Glu663fs
NP_001394837.1:p.Glu663fs
NP_001394838.1:p.Glu663fs
NP_001394839.1:p.Glu663fs
NP_001394844.1:p.Glu662fs
NP_001394845.1:p.Glu662fs
NP_001394846.1:p.Glu662fs
NP_001394847.1:p.Glu662fs
NP_001394848.1:p.Glu692fs
NP_001394849.1:p.Glu645fs
NP_001394850.1:p.Glu645fs
NP_001394851.1:p.Glu645fs
NP_001394852.1:p.Glu645fs
NP_001394853.1:p.Glu645fs
NP_001394854.1:p.Glu645fs
NP_001394855.1:p.Glu645fs
NP_001394856.1:p.Glu645fs
NP_001394857.1:p.Glu645fs
NP_001394858.1:p.Glu645fs
NP_001394859.1:p.Glu644fs
NP_001394860.1:p.Glu644fs
NP_001394861.1:p.Glu644fs
NP_001394862.1:p.Glu645fs
NP_001394863.1:p.Glu644fs
NP_001394864.1:p.Glu645fs
NP_001394865.1:p.Glu644fs
NP_001394866.1:p.Glu692fs
NP_001394867.1:p.Glu692fs
NP_001394868.1:p.Glu692fs
NP_001394869.1:p.Glu691fs
NP_001394870.1:p.Glu691fs
NP_001394871.1:p.Glu686fs
NP_001394872.1:p.Glu685fs
NP_001394873.1:p.Glu686fs
NP_001394874.1:p.Glu686fs
NP_001394875.1:p.Glu622fs
NP_001394876.1:p.Glu622fs
NP_001394877.1:p.Glu622fs
NP_001394878.1:p.Glu622fs
NP_001394879.1:p.Glu622fs
NP_001394880.1:p.Glu622fs
NP_001394881.1:p.Glu622fs
NP_001394882.1:p.Glu622fs
NP_001394883.1:p.Glu621fs
NP_001394884.1:p.Glu621fs
NP_001394885.1:p.Glu621fs
NP_001394886.1:p.Glu622fs
NP_001394887.1:p.Glu621fs
NP_001394888.1:p.Glu606fs
NP_001394889.1:p.Glu606fs
NP_001394891.1:p.Glu605fs
NP_001394892.1:p.Glu606fs
NP_001394893.1:p.Glu685fs
NP_001394894.1:p.Glu565fs
NP_001394895.1:p.Glu437fs
NP_001394896.1:p.Glu437fs
NP_009225.1:p.Glu733Thrfs
NP_009225.1:p.Glu733fs
NP_009228.2:p.Glu686fs
NP_009231.2:p.Glu733fs
LRG_292t1:c.2193_2197del
LRG_292:g.124650_124654del
LRG_292p1:p.Glu733Thrfs
NC_000017.10:g.41245347_41245351del
NC_000017.10:g.41245347_41245351delTTCTC
NC_000017.10:g.41245351_41245355del
NM_007294.3:c.2193_2197delAGAAG
NM_007294.3:c.2197_2201delGAGAA
NM_007294.4:c.2197_2201del
NR_027676.1:n.2329_2333delAGAAG
U14680.1:n.2316_2320delGAGAA
p.E733TfsX5
p.Glu733Thrfs*5

Protein change:

E437fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2312&base_change=del AGAAG; Breast Cancer Information Core (BIC) (BRCA1): 2313&base_change=del GAAGA; Breast Cancer Information Core (BIC) (BRCA1): 2314&base_change=del AAGAG; Breast Cancer Information Core (BIC) (BRCA1): 2316&base_change=del GAGAA; dbSNP: rs80357507

NCBI 1000 Genomes Browser:

rs80357507

Molecular consequence:

NM_001407571.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2188_2192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2188_2192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2116_2120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2116_2120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2116_2120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2116_2120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2119_2123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2194_2198del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1996_2000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1993_1997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1993_1997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1987_1991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1984_1988del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1930_1934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1930_1934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1930_1934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1930_1934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1933_1937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1930_1934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2074_2078del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2071_2075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1861_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1861_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1861_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1864_1868del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1861_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1816_1820del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1816_1820del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1813_1817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1816_1820del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1693_1697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1309_1313del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1309_1313del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2056_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2197_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-1195_788-1191del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-1195_788-1191del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1407_790+1411del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1410_778+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1410_709+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1410_709+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1410_709+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1410_706+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1410_709+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1410_709+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1410_706+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-2302_671-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-2302_671-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-2302_671-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-2302_668-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-2302_671-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-2302_671-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-2302_668-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-2302_668-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1410_664+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1410_661+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1410_652+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1410_646+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1410_643+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1410_784+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1410_586+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1410_583+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1410_586+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1410_574+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1410_574+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1410_574+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2302_548-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2302_545-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1410_523+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1410_454+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1410_520+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1410_520+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1410_520+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-2302_461-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-2302_461-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1410_451+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1410_451+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1410_406+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2302_404-2298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1410_283+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1410_577+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1410_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1410_787+1414del - 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
SCV000144331	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000211995	Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol	no assertion criteria provided (clinical testing)	Pathogenic (Feb 11, 2015)	germline	clinical testing
SCV000299716	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,
SCV000325282	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,
SCV000733647	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV000744664	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Sep 21, 2015)	germline	clinical testing	Citation Link,
SCV004216972	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 25, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	54	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144331.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
3	Western European	1	not provided	not provided	clinical testing	not provided
4	Western European, Asian	1	not provided	not provided	clinical testing	not provided
5	Western Europeanan, Central/Eastern European	1	not provided	not provided	clinical testing	not provided

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

From Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol, SCV000211995.1

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

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299716.2

#	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, SCV000325282.4

#	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	54	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733647.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744664.1

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

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

From Baylor Genetics, SCV004216972.1

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

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

Last Updated: Apr 20, 2024

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