NM_007294.4(BRCA1):c.2075_2076del (p.His692fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 19, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV001174884.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)]

NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)

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.2075_2076del (p.His692fs)

HGVS:

NC_000017.11:g.43093455_43093456del
NG_005905.2:g.124528_124529del
NM_001407571.1:c.1862_1863del
NM_001407581.1:c.2075_2076del
NM_001407582.1:c.2075_2076del
NM_001407583.1:c.2075_2076del
NM_001407585.1:c.2075_2076del
NM_001407587.1:c.2072_2073del
NM_001407590.1:c.2072_2073del
NM_001407591.1:c.2072_2073del
NM_001407593.1:c.2075_2076del
NM_001407594.1:c.2075_2076del
NM_001407596.1:c.2075_2076del
NM_001407597.1:c.2075_2076del
NM_001407598.1:c.2075_2076del
NM_001407602.1:c.2075_2076del
NM_001407603.1:c.2075_2076del
NM_001407605.1:c.2075_2076del
NM_001407610.1:c.2072_2073del
NM_001407611.1:c.2072_2073del
NM_001407612.1:c.2072_2073del
NM_001407613.1:c.2072_2073del
NM_001407614.1:c.2072_2073del
NM_001407615.1:c.2072_2073del
NM_001407616.1:c.2075_2076del
NM_001407617.1:c.2075_2076del
NM_001407618.1:c.2075_2076del
NM_001407619.1:c.2075_2076del
NM_001407620.1:c.2075_2076del
NM_001407621.1:c.2075_2076del
NM_001407622.1:c.2075_2076del
NM_001407623.1:c.2075_2076del
NM_001407624.1:c.2075_2076del
NM_001407625.1:c.2075_2076del
NM_001407626.1:c.2075_2076del
NM_001407627.1:c.2072_2073del
NM_001407628.1:c.2072_2073del
NM_001407629.1:c.2072_2073del
NM_001407630.1:c.2072_2073del
NM_001407631.1:c.2072_2073del
NM_001407632.1:c.2072_2073del
NM_001407633.1:c.2072_2073del
NM_001407634.1:c.2072_2073del
NM_001407635.1:c.2072_2073del
NM_001407636.1:c.2072_2073del
NM_001407637.1:c.2072_2073del
NM_001407638.1:c.2072_2073del
NM_001407639.1:c.2075_2076del
NM_001407640.1:c.2075_2076del
NM_001407641.1:c.2075_2076del
NM_001407642.1:c.2075_2076del
NM_001407644.1:c.2072_2073del
NM_001407645.1:c.2072_2073del
NM_001407646.1:c.2066_2067del
NM_001407647.1:c.2066_2067del
NM_001407648.1:c.1952_1953del
NM_001407649.1:c.1949_1950del
NM_001407652.1:c.2075_2076del
NM_001407653.1:c.1997_1998del
NM_001407654.1:c.1997_1998del
NM_001407655.1:c.1997_1998del
NM_001407656.1:c.1997_1998del
NM_001407657.1:c.1997_1998del
NM_001407658.1:c.1997_1998del
NM_001407659.1:c.1994_1995del
NM_001407660.1:c.1994_1995del
NM_001407661.1:c.1994_1995del
NM_001407662.1:c.1994_1995del
NM_001407663.1:c.1997_1998del
NM_001407664.1:c.1952_1953del
NM_001407665.1:c.1952_1953del
NM_001407666.1:c.1952_1953del
NM_001407667.1:c.1952_1953del
NM_001407668.1:c.1952_1953del
NM_001407669.1:c.1952_1953del
NM_001407670.1:c.1949_1950del
NM_001407671.1:c.1949_1950del
NM_001407672.1:c.1949_1950del
NM_001407673.1:c.1949_1950del
NM_001407674.1:c.1952_1953del
NM_001407675.1:c.1952_1953del
NM_001407676.1:c.1952_1953del
NM_001407677.1:c.1952_1953del
NM_001407678.1:c.1952_1953del
NM_001407679.1:c.1952_1953del
NM_001407680.1:c.1952_1953del
NM_001407681.1:c.1952_1953del
NM_001407682.1:c.1952_1953del
NM_001407683.1:c.1952_1953del
NM_001407684.1:c.2075_2076del
NM_001407685.1:c.1949_1950del
NM_001407686.1:c.1949_1950del
NM_001407687.1:c.1949_1950del
NM_001407688.1:c.1949_1950del
NM_001407689.1:c.1949_1950del
NM_001407690.1:c.1949_1950del
NM_001407691.1:c.1949_1950del
NM_001407692.1:c.1934_1935del
NM_001407694.1:c.1934_1935del
NM_001407695.1:c.1934_1935del
NM_001407696.1:c.1934_1935del
NM_001407697.1:c.1934_1935del
NM_001407698.1:c.1934_1935del
NM_001407724.1:c.1934_1935del
NM_001407725.1:c.1934_1935del
NM_001407726.1:c.1934_1935del
NM_001407727.1:c.1934_1935del
NM_001407728.1:c.1934_1935del
NM_001407729.1:c.1934_1935del
NM_001407730.1:c.1934_1935del
NM_001407731.1:c.1934_1935del
NM_001407732.1:c.1934_1935del
NM_001407733.1:c.1934_1935del
NM_001407734.1:c.1934_1935del
NM_001407735.1:c.1934_1935del
NM_001407736.1:c.1934_1935del
NM_001407737.1:c.1934_1935del
NM_001407738.1:c.1934_1935del
NM_001407739.1:c.1934_1935del
NM_001407740.1:c.1931_1932del
NM_001407741.1:c.1931_1932del
NM_001407742.1:c.1931_1932del
NM_001407743.1:c.1931_1932del
NM_001407744.1:c.1931_1932del
NM_001407745.1:c.1931_1932del
NM_001407746.1:c.1931_1932del
NM_001407747.1:c.1931_1932del
NM_001407748.1:c.1931_1932del
NM_001407749.1:c.1931_1932del
NM_001407750.1:c.1934_1935del
NM_001407751.1:c.1934_1935del
NM_001407752.1:c.1934_1935del
NM_001407838.1:c.1931_1932del
NM_001407839.1:c.1931_1932del
NM_001407841.1:c.1931_1932del
NM_001407842.1:c.1931_1932del
NM_001407843.1:c.1931_1932del
NM_001407844.1:c.1931_1932del
NM_001407845.1:c.1931_1932del
NM_001407846.1:c.1931_1932del
NM_001407847.1:c.1931_1932del
NM_001407848.1:c.1931_1932del
NM_001407849.1:c.1931_1932del
NM_001407850.1:c.1934_1935del
NM_001407851.1:c.1934_1935del
NM_001407852.1:c.1934_1935del
NM_001407853.1:c.1862_1863del
NM_001407854.1:c.2075_2076del
NM_001407858.1:c.2075_2076del
NM_001407859.1:c.2075_2076del
NM_001407860.1:c.2072_2073del
NM_001407861.1:c.2072_2073del
NM_001407862.1:c.1874_1875del
NM_001407863.1:c.1952_1953del
NM_001407874.1:c.1871_1872del
NM_001407875.1:c.1871_1872del
NM_001407879.1:c.1865_1866del
NM_001407881.1:c.1865_1866del
NM_001407882.1:c.1865_1866del
NM_001407884.1:c.1865_1866del
NM_001407885.1:c.1865_1866del
NM_001407886.1:c.1865_1866del
NM_001407887.1:c.1865_1866del
NM_001407889.1:c.1865_1866del
NM_001407894.1:c.1862_1863del
NM_001407895.1:c.1862_1863del
NM_001407896.1:c.1862_1863del
NM_001407897.1:c.1862_1863del
NM_001407898.1:c.1862_1863del
NM_001407899.1:c.1862_1863del
NM_001407900.1:c.1865_1866del
NM_001407902.1:c.1865_1866del
NM_001407904.1:c.1865_1866del
NM_001407906.1:c.1865_1866del
NM_001407907.1:c.1865_1866del
NM_001407908.1:c.1865_1866del
NM_001407909.1:c.1865_1866del
NM_001407910.1:c.1865_1866del
NM_001407915.1:c.1862_1863del
NM_001407916.1:c.1862_1863del
NM_001407917.1:c.1862_1863del
NM_001407918.1:c.1862_1863del
NM_001407919.1:c.1952_1953del
NM_001407920.1:c.1811_1812del
NM_001407921.1:c.1811_1812del
NM_001407922.1:c.1811_1812del
NM_001407923.1:c.1811_1812del
NM_001407924.1:c.1811_1812del
NM_001407925.1:c.1811_1812del
NM_001407926.1:c.1811_1812del
NM_001407927.1:c.1811_1812del
NM_001407928.1:c.1811_1812del
NM_001407929.1:c.1811_1812del
NM_001407930.1:c.1808_1809del
NM_001407931.1:c.1808_1809del
NM_001407932.1:c.1808_1809del
NM_001407933.1:c.1811_1812del
NM_001407934.1:c.1808_1809del
NM_001407935.1:c.1811_1812del
NM_001407936.1:c.1808_1809del
NM_001407937.1:c.1952_1953del
NM_001407938.1:c.1952_1953del
NM_001407939.1:c.1952_1953del
NM_001407940.1:c.1949_1950del
NM_001407941.1:c.1949_1950del
NM_001407942.1:c.1934_1935del
NM_001407943.1:c.1931_1932del
NM_001407944.1:c.1934_1935del
NM_001407945.1:c.1934_1935del
NM_001407946.1:c.1742_1743del
NM_001407947.1:c.1742_1743del
NM_001407948.1:c.1742_1743del
NM_001407949.1:c.1742_1743del
NM_001407950.1:c.1742_1743del
NM_001407951.1:c.1742_1743del
NM_001407952.1:c.1742_1743del
NM_001407953.1:c.1742_1743del
NM_001407954.1:c.1739_1740del
NM_001407955.1:c.1739_1740del
NM_001407956.1:c.1739_1740del
NM_001407957.1:c.1742_1743del
NM_001407958.1:c.1739_1740del
NM_001407959.1:c.1694_1695del
NM_001407960.1:c.1694_1695del
NM_001407962.1:c.1691_1692del
NM_001407963.1:c.1694_1695del
NM_001407964.1:c.1931_1932del
NM_001407965.1:c.1571_1572del
NM_001407966.1:c.1187_1188del
NM_001407967.1:c.1187_1188del
NM_001407968.1:c.787+1288_787+1289del
NM_001407969.1:c.787+1288_787+1289del
NM_001407970.1:c.787+1288_787+1289del
NM_001407971.1:c.787+1288_787+1289del
NM_001407972.1:c.784+1288_784+1289del
NM_001407973.1:c.787+1288_787+1289del
NM_001407974.1:c.787+1288_787+1289del
NM_001407975.1:c.787+1288_787+1289del
NM_001407976.1:c.787+1288_787+1289del
NM_001407977.1:c.787+1288_787+1289del
NM_001407978.1:c.787+1288_787+1289del
NM_001407979.1:c.787+1288_787+1289del
NM_001407980.1:c.787+1288_787+1289del
NM_001407981.1:c.787+1288_787+1289del
NM_001407982.1:c.787+1288_787+1289del
NM_001407983.1:c.787+1288_787+1289del
NM_001407984.1:c.784+1288_784+1289del
NM_001407985.1:c.784+1288_784+1289del
NM_001407986.1:c.784+1288_784+1289del
NM_001407990.1:c.787+1288_787+1289del
NM_001407991.1:c.784+1288_784+1289del
NM_001407992.1:c.784+1288_784+1289del
NM_001407993.1:c.787+1288_787+1289del
NM_001408392.1:c.784+1288_784+1289del
NM_001408396.1:c.784+1288_784+1289del
NM_001408397.1:c.784+1288_784+1289del
NM_001408398.1:c.784+1288_784+1289del
NM_001408399.1:c.784+1288_784+1289del
NM_001408400.1:c.784+1288_784+1289del
NM_001408401.1:c.784+1288_784+1289del
NM_001408402.1:c.784+1288_784+1289del
NM_001408403.1:c.787+1288_787+1289del
NM_001408404.1:c.787+1288_787+1289del
NM_001408406.1:c.790+1285_790+1286del
NM_001408407.1:c.784+1288_784+1289del
NM_001408408.1:c.778+1288_778+1289del
NM_001408409.1:c.709+1288_709+1289del
NM_001408410.1:c.646+1288_646+1289del
NM_001408411.1:c.709+1288_709+1289del
NM_001408412.1:c.709+1288_709+1289del
NM_001408413.1:c.706+1288_706+1289del
NM_001408414.1:c.709+1288_709+1289del
NM_001408415.1:c.709+1288_709+1289del
NM_001408416.1:c.706+1288_706+1289del
NM_001408418.1:c.670+2390_670+2391del
NM_001408419.1:c.670+2390_670+2391del
NM_001408420.1:c.670+2390_670+2391del
NM_001408421.1:c.667+2390_667+2391del
NM_001408422.1:c.670+2390_670+2391del
NM_001408423.1:c.670+2390_670+2391del
NM_001408424.1:c.667+2390_667+2391del
NM_001408425.1:c.664+1288_664+1289del
NM_001408426.1:c.664+1288_664+1289del
NM_001408427.1:c.664+1288_664+1289del
NM_001408428.1:c.664+1288_664+1289del
NM_001408429.1:c.664+1288_664+1289del
NM_001408430.1:c.664+1288_664+1289del
NM_001408431.1:c.667+2390_667+2391del
NM_001408432.1:c.661+1288_661+1289del
NM_001408433.1:c.661+1288_661+1289del
NM_001408434.1:c.661+1288_661+1289del
NM_001408435.1:c.661+1288_661+1289del
NM_001408436.1:c.664+1288_664+1289del
NM_001408437.1:c.664+1288_664+1289del
NM_001408438.1:c.664+1288_664+1289del
NM_001408439.1:c.664+1288_664+1289del
NM_001408440.1:c.664+1288_664+1289del
NM_001408441.1:c.664+1288_664+1289del
NM_001408442.1:c.664+1288_664+1289del
NM_001408443.1:c.664+1288_664+1289del
NM_001408444.1:c.664+1288_664+1289del
NM_001408445.1:c.661+1288_661+1289del
NM_001408446.1:c.661+1288_661+1289del
NM_001408447.1:c.661+1288_661+1289del
NM_001408448.1:c.661+1288_661+1289del
NM_001408450.1:c.661+1288_661+1289del
NM_001408451.1:c.652+1288_652+1289del
NM_001408452.1:c.646+1288_646+1289del
NM_001408453.1:c.646+1288_646+1289del
NM_001408454.1:c.646+1288_646+1289del
NM_001408455.1:c.646+1288_646+1289del
NM_001408456.1:c.646+1288_646+1289del
NM_001408457.1:c.646+1288_646+1289del
NM_001408458.1:c.646+1288_646+1289del
NM_001408459.1:c.646+1288_646+1289del
NM_001408460.1:c.646+1288_646+1289del
NM_001408461.1:c.646+1288_646+1289del
NM_001408462.1:c.643+1288_643+1289del
NM_001408463.1:c.643+1288_643+1289del
NM_001408464.1:c.643+1288_643+1289del
NM_001408465.1:c.643+1288_643+1289del
NM_001408466.1:c.646+1288_646+1289del
NM_001408467.1:c.646+1288_646+1289del
NM_001408468.1:c.643+1288_643+1289del
NM_001408469.1:c.646+1288_646+1289del
NM_001408470.1:c.643+1288_643+1289del
NM_001408472.1:c.787+1288_787+1289del
NM_001408473.1:c.784+1288_784+1289del
NM_001408474.1:c.586+1288_586+1289del
NM_001408475.1:c.583+1288_583+1289del
NM_001408476.1:c.586+1288_586+1289del
NM_001408478.1:c.577+1288_577+1289del
NM_001408479.1:c.577+1288_577+1289del
NM_001408480.1:c.577+1288_577+1289del
NM_001408481.1:c.577+1288_577+1289del
NM_001408482.1:c.577+1288_577+1289del
NM_001408483.1:c.577+1288_577+1289del
NM_001408484.1:c.577+1288_577+1289del
NM_001408485.1:c.577+1288_577+1289del
NM_001408489.1:c.577+1288_577+1289del
NM_001408490.1:c.574+1288_574+1289del
NM_001408491.1:c.574+1288_574+1289del
NM_001408492.1:c.577+1288_577+1289del
NM_001408493.1:c.574+1288_574+1289del
NM_001408494.1:c.548-2424_548-2423del
NM_001408495.1:c.545-2424_545-2423del
NM_001408496.1:c.523+1288_523+1289del
NM_001408497.1:c.523+1288_523+1289del
NM_001408498.1:c.523+1288_523+1289del
NM_001408499.1:c.523+1288_523+1289del
NM_001408500.1:c.523+1288_523+1289del
NM_001408501.1:c.523+1288_523+1289del
NM_001408502.1:c.454+1288_454+1289del
NM_001408503.1:c.520+1288_520+1289del
NM_001408504.1:c.520+1288_520+1289del
NM_001408505.1:c.520+1288_520+1289del
NM_001408506.1:c.460+2390_460+2391del
NM_001408507.1:c.460+2390_460+2391del
NM_001408508.1:c.451+1288_451+1289del
NM_001408509.1:c.451+1288_451+1289del
NM_001408510.1:c.406+1288_406+1289del
NM_001408511.1:c.404-2424_404-2423del
NM_001408512.1:c.283+1288_283+1289del
NM_001408513.1:c.577+1288_577+1289del
NM_001408514.1:c.577+1288_577+1289del
NM_007294.4:c.2075_2076delMANE SELECT
NM_007297.4:c.1934_1935del
NM_007298.4:c.787+1288_787+1289del
NM_007299.4:c.787+1288_787+1289del
NM_007300.4:c.2075_2076del
NP_001394500.1:p.His621fs
NP_001394510.1:p.His692fs
NP_001394511.1:p.His692fs
NP_001394512.1:p.His692fs
NP_001394514.1:p.His692fs
NP_001394516.1:p.His691fs
NP_001394519.1:p.His691fs
NP_001394520.1:p.His691fs
NP_001394522.1:p.His692fs
NP_001394523.1:p.His692fs
NP_001394525.1:p.His692fs
NP_001394526.1:p.His692fs
NP_001394527.1:p.His692fs
NP_001394531.1:p.His692fs
NP_001394532.1:p.His692fs
NP_001394534.1:p.His692fs
NP_001394539.1:p.His691fs
NP_001394540.1:p.His691fs
NP_001394541.1:p.His691fs
NP_001394542.1:p.His691fs
NP_001394543.1:p.His691fs
NP_001394544.1:p.His691fs
NP_001394545.1:p.His692fs
NP_001394546.1:p.His692fs
NP_001394547.1:p.His692fs
NP_001394548.1:p.His692fs
NP_001394549.1:p.His692fs
NP_001394550.1:p.His692fs
NP_001394551.1:p.His692fs
NP_001394552.1:p.His692fs
NP_001394553.1:p.His692fs
NP_001394554.1:p.His692fs
NP_001394555.1:p.His692fs
NP_001394556.1:p.His691fs
NP_001394557.1:p.His691fs
NP_001394558.1:p.His691fs
NP_001394559.1:p.His691fs
NP_001394560.1:p.His691fs
NP_001394561.1:p.His691fs
NP_001394562.1:p.His691fs
NP_001394563.1:p.His691fs
NP_001394564.1:p.His691fs
NP_001394565.1:p.His691fs
NP_001394566.1:p.His691fs
NP_001394567.1:p.His691fs
NP_001394568.1:p.His692fs
NP_001394569.1:p.His692fs
NP_001394570.1:p.His692fs
NP_001394571.1:p.His692fs
NP_001394573.1:p.His691fs
NP_001394574.1:p.His691fs
NP_001394575.1:p.His689fs
NP_001394576.1:p.His689fs
NP_001394577.1:p.His651fs
NP_001394578.1:p.His650fs
NP_001394581.1:p.His692fs
NP_001394582.1:p.His666fs
NP_001394583.1:p.His666fs
NP_001394584.1:p.His666fs
NP_001394585.1:p.His666fs
NP_001394586.1:p.His666fs
NP_001394587.1:p.His666fs
NP_001394588.1:p.His665fs
NP_001394589.1:p.His665fs
NP_001394590.1:p.His665fs
NP_001394591.1:p.His665fs
NP_001394592.1:p.His666fs
NP_001394593.1:p.His651fs
NP_001394594.1:p.His651fs
NP_001394595.1:p.His651fs
NP_001394596.1:p.His651fs
NP_001394597.1:p.His651fs
NP_001394598.1:p.His651fs
NP_001394599.1:p.His650fs
NP_001394600.1:p.His650fs
NP_001394601.1:p.His650fs
NP_001394602.1:p.His650fs
NP_001394603.1:p.His651fs
NP_001394604.1:p.His651fs
NP_001394605.1:p.His651fs
NP_001394606.1:p.His651fs
NP_001394607.1:p.His651fs
NP_001394608.1:p.His651fs
NP_001394609.1:p.His651fs
NP_001394610.1:p.His651fs
NP_001394611.1:p.His651fs
NP_001394612.1:p.His651fs
NP_001394613.1:p.His692fs
NP_001394614.1:p.His650fs
NP_001394615.1:p.His650fs
NP_001394616.1:p.His650fs
NP_001394617.1:p.His650fs
NP_001394618.1:p.His650fs
NP_001394619.1:p.His650fs
NP_001394620.1:p.His650fs
NP_001394621.1:p.His645fs
NP_001394623.1:p.His645fs
NP_001394624.1:p.His645fs
NP_001394625.1:p.His645fs
NP_001394626.1:p.His645fs
NP_001394627.1:p.His645fs
NP_001394653.1:p.His645fs
NP_001394654.1:p.His645fs
NP_001394655.1:p.His645fs
NP_001394656.1:p.His645fs
NP_001394657.1:p.His645fs
NP_001394658.1:p.His645fs
NP_001394659.1:p.His645fs
NP_001394660.1:p.His645fs
NP_001394661.1:p.His645fs
NP_001394662.1:p.His645fs
NP_001394663.1:p.His645fs
NP_001394664.1:p.His645fs
NP_001394665.1:p.His645fs
NP_001394666.1:p.His645fs
NP_001394667.1:p.His645fs
NP_001394668.1:p.His645fs
NP_001394669.1:p.His644fs
NP_001394670.1:p.His644fs
NP_001394671.1:p.His644fs
NP_001394672.1:p.His644fs
NP_001394673.1:p.His644fs
NP_001394674.1:p.His644fs
NP_001394675.1:p.His644fs
NP_001394676.1:p.His644fs
NP_001394677.1:p.His644fs
NP_001394678.1:p.His644fs
NP_001394679.1:p.His645fs
NP_001394680.1:p.His645fs
NP_001394681.1:p.His645fs
NP_001394767.1:p.His644fs
NP_001394768.1:p.His644fs
NP_001394770.1:p.His644fs
NP_001394771.1:p.His644fs
NP_001394772.1:p.His644fs
NP_001394773.1:p.His644fs
NP_001394774.1:p.His644fs
NP_001394775.1:p.His644fs
NP_001394776.1:p.His644fs
NP_001394777.1:p.His644fs
NP_001394778.1:p.His644fs
NP_001394779.1:p.His645fs
NP_001394780.1:p.His645fs
NP_001394781.1:p.His645fs
NP_001394782.1:p.His621fs
NP_001394783.1:p.His692fs
NP_001394787.1:p.His692fs
NP_001394788.1:p.His692fs
NP_001394789.1:p.His691fs
NP_001394790.1:p.His691fs
NP_001394791.1:p.His625fs
NP_001394792.1:p.His651fs
NP_001394803.1:p.His624fs
NP_001394804.1:p.His624fs
NP_001394808.1:p.His622fs
NP_001394810.1:p.His622fs
NP_001394811.1:p.His622fs
NP_001394813.1:p.His622fs
NP_001394814.1:p.His622fs
NP_001394815.1:p.His622fs
NP_001394816.1:p.His622fs
NP_001394818.1:p.His622fs
NP_001394823.1:p.His621fs
NP_001394824.1:p.His621fs
NP_001394825.1:p.His621fs
NP_001394826.1:p.His621fs
NP_001394827.1:p.His621fs
NP_001394828.1:p.His621fs
NP_001394829.1:p.His622fs
NP_001394831.1:p.His622fs
NP_001394833.1:p.His622fs
NP_001394835.1:p.His622fs
NP_001394836.1:p.His622fs
NP_001394837.1:p.His622fs
NP_001394838.1:p.His622fs
NP_001394839.1:p.His622fs
NP_001394844.1:p.His621fs
NP_001394845.1:p.His621fs
NP_001394846.1:p.His621fs
NP_001394847.1:p.His621fs
NP_001394848.1:p.His651fs
NP_001394849.1:p.His604fs
NP_001394850.1:p.His604fs
NP_001394851.1:p.His604fs
NP_001394852.1:p.His604fs
NP_001394853.1:p.His604fs
NP_001394854.1:p.His604fs
NP_001394855.1:p.His604fs
NP_001394856.1:p.His604fs
NP_001394857.1:p.His604fs
NP_001394858.1:p.His604fs
NP_001394859.1:p.His603fs
NP_001394860.1:p.His603fs
NP_001394861.1:p.His603fs
NP_001394862.1:p.His604fs
NP_001394863.1:p.His603fs
NP_001394864.1:p.His604fs
NP_001394865.1:p.His603fs
NP_001394866.1:p.His651fs
NP_001394867.1:p.His651fs
NP_001394868.1:p.His651fs
NP_001394869.1:p.His650fs
NP_001394870.1:p.His650fs
NP_001394871.1:p.His645fs
NP_001394872.1:p.His644fs
NP_001394873.1:p.His645fs
NP_001394874.1:p.His645fs
NP_001394875.1:p.His581fs
NP_001394876.1:p.His581fs
NP_001394877.1:p.His581fs
NP_001394878.1:p.His581fs
NP_001394879.1:p.His581fs
NP_001394880.1:p.His581fs
NP_001394881.1:p.His581fs
NP_001394882.1:p.His581fs
NP_001394883.1:p.His580fs
NP_001394884.1:p.His580fs
NP_001394885.1:p.His580fs
NP_001394886.1:p.His581fs
NP_001394887.1:p.His580fs
NP_001394888.1:p.His565fs
NP_001394889.1:p.His565fs
NP_001394891.1:p.His564fs
NP_001394892.1:p.His565fs
NP_001394893.1:p.His644fs
NP_001394894.1:p.His524fs
NP_001394895.1:p.His396fs
NP_001394896.1:p.His396fs
NP_009225.1:p.His692Argfs
NP_009225.1:p.His692fs
NP_009228.2:p.His645fs
NP_009231.2:p.His692fs
LRG_292t1:c.2075_2076del
LRG_292:g.124528_124529del
LRG_292p1:p.His692Argfs
NC_000017.10:g.41245472_41245473del
NM_007294.3:c.2075_2076delAT
NM_007294.3:c.2075_2076delAT
NR_027676.1:n.2211_2212delAT
p.(His692ArgfsTer19)

Protein change:

H396fs

Links:

dbSNP: rs397508936

NCBI 1000 Genomes Browser:

rs397508936

Molecular consequence:

NM_001407571.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1994_1995del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1994_1995del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1994_1995del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1994_1995del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1874_1875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1871_1872del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1871_1872del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1865_1866del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1862_1863del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1808_1809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1808_1809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1808_1809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1808_1809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1811_1812del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1808_1809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1952_1953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1949_1950del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1739_1740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1739_1740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1739_1740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1742_1743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1739_1740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1694_1695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1694_1695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1691_1692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1694_1695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1931_1932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1571_1572del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1187_1188del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1187_1188del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1934_1935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2075_2076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1285_790+1286del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1288_778+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1288_709+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1288_709+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1288_709+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1288_706+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1288_709+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1288_709+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1288_706+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2390_670+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2390_670+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2390_670+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2390_667+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2390_670+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2390_670+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2390_667+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2390_667+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1288_664+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1288_661+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1288_652+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1288_646+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1288_643+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1288_784+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1288_586+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1288_583+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1288_586+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1288_574+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1288_574+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1288_574+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2424_548-2423del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2424_545-2423del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1288_523+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1288_454+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1288_520+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1288_520+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1288_520+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2390_460+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2390_460+2391del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1288_451+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1288_451+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1288_406+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2424_404-2423del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1288_283+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1288_577+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1288_787+1289del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338296	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Feb 12, 2020)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11595708, 10804288, 15375703, 21213370 Citation Link,
SCV004296836	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 19, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11595708, 32980694, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338296

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Feb 12, 2020)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV004296836

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 19, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers.

Kashima K, Oite T, Aoki Y, Takakuwa K, Aida H, Nagata H, Sekine M, Wu HJ, Hirai Y, Wada Y, Yamamoto K, Hasegawa K, Sonoda T, Maruo T, Nagata I, Ohno M, Suzuki M, Kobayashi I, Kuzuya K, Takahashi T, Torii Y, Tanaka K.

Jpn J Cancer Res. 2000 Apr;91(4):399-409.

PubMed [citation]

PMID:: 10804288
PMCID:: PMC5926460

Familial breast and ovarian cancers.

Arai M, Utsunomiya J, Miki Y.

Int J Clin Oncol. 2004 Aug;9(4):270-82. Review.

PubMed [citation]

PMID:: 15375703

See all PubMed Citations (7)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338296.1

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

Description

Variant summary: BRCA1 c.2075_2076delAT (p.His692ArgfsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251126 control chromosomes (gnomAD). c.2075_2076delAT has been reported in the literature in at least one individual affected with Hereditary Breast and Ovarian Cancer (Sekine_2001). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) (ENIGMA expert panel) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004296836.1

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

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54452). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer, and/or pancreatic cancer (PMID: 11595708, 32980694). This sequence change creates a premature translational stop signal (p.His692Argfs*19) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine