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NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000131875.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)]

NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)

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.2210_2211del (p.Thr737fs)
HGVS:
  • NC_000017.10:g.41245337_41245338del
  • NC_000017.11:g.43093321_43093322del
  • NG_005905.2:g.124663_124664del
  • NM_001407571.1:c.1997_1998del
  • NM_001407581.1:c.2210_2211del
  • NM_001407582.1:c.2210_2211del
  • NM_001407583.1:c.2210_2211del
  • NM_001407585.1:c.2210_2211del
  • NM_001407587.1:c.2207_2208del
  • NM_001407590.1:c.2207_2208del
  • NM_001407591.1:c.2207_2208del
  • NM_001407593.1:c.2210_2211del
  • NM_001407594.1:c.2210_2211del
  • NM_001407596.1:c.2210_2211del
  • NM_001407597.1:c.2210_2211del
  • NM_001407598.1:c.2210_2211del
  • NM_001407602.1:c.2210_2211del
  • NM_001407603.1:c.2210_2211del
  • NM_001407605.1:c.2210_2211del
  • NM_001407610.1:c.2207_2208del
  • NM_001407611.1:c.2207_2208del
  • NM_001407612.1:c.2207_2208del
  • NM_001407613.1:c.2207_2208del
  • NM_001407614.1:c.2207_2208del
  • NM_001407615.1:c.2207_2208del
  • NM_001407616.1:c.2210_2211del
  • NM_001407617.1:c.2210_2211del
  • NM_001407618.1:c.2210_2211del
  • NM_001407619.1:c.2210_2211del
  • NM_001407620.1:c.2210_2211del
  • NM_001407621.1:c.2210_2211del
  • NM_001407622.1:c.2210_2211del
  • NM_001407623.1:c.2210_2211del
  • NM_001407624.1:c.2210_2211del
  • NM_001407625.1:c.2210_2211del
  • NM_001407626.1:c.2210_2211del
  • NM_001407627.1:c.2207_2208del
  • NM_001407628.1:c.2207_2208del
  • NM_001407629.1:c.2207_2208del
  • NM_001407630.1:c.2207_2208del
  • NM_001407631.1:c.2207_2208del
  • NM_001407632.1:c.2207_2208del
  • NM_001407633.1:c.2207_2208del
  • NM_001407634.1:c.2207_2208del
  • NM_001407635.1:c.2207_2208del
  • NM_001407636.1:c.2207_2208del
  • NM_001407637.1:c.2207_2208del
  • NM_001407638.1:c.2207_2208del
  • NM_001407639.1:c.2210_2211del
  • NM_001407640.1:c.2210_2211del
  • NM_001407641.1:c.2210_2211del
  • NM_001407642.1:c.2210_2211del
  • NM_001407644.1:c.2207_2208del
  • NM_001407645.1:c.2207_2208del
  • NM_001407646.1:c.2201_2202del
  • NM_001407647.1:c.2201_2202del
  • NM_001407648.1:c.2087_2088del
  • NM_001407649.1:c.2084_2085del
  • NM_001407652.1:c.2210_2211del
  • NM_001407653.1:c.2132_2133del
  • NM_001407654.1:c.2132_2133del
  • NM_001407655.1:c.2132_2133del
  • NM_001407656.1:c.2132_2133del
  • NM_001407657.1:c.2132_2133del
  • NM_001407658.1:c.2132_2133del
  • NM_001407659.1:c.2129_2130del
  • NM_001407660.1:c.2129_2130del
  • NM_001407661.1:c.2129_2130del
  • NM_001407662.1:c.2129_2130del
  • NM_001407663.1:c.2132_2133del
  • NM_001407664.1:c.2087_2088del
  • NM_001407665.1:c.2087_2088del
  • NM_001407666.1:c.2087_2088del
  • NM_001407667.1:c.2087_2088del
  • NM_001407668.1:c.2087_2088del
  • NM_001407669.1:c.2087_2088del
  • NM_001407670.1:c.2084_2085del
  • NM_001407671.1:c.2084_2085del
  • NM_001407672.1:c.2084_2085del
  • NM_001407673.1:c.2084_2085del
  • NM_001407674.1:c.2087_2088del
  • NM_001407675.1:c.2087_2088del
  • NM_001407676.1:c.2087_2088del
  • NM_001407677.1:c.2087_2088del
  • NM_001407678.1:c.2087_2088del
  • NM_001407679.1:c.2087_2088del
  • NM_001407680.1:c.2087_2088del
  • NM_001407681.1:c.2087_2088del
  • NM_001407682.1:c.2087_2088del
  • NM_001407683.1:c.2087_2088del
  • NM_001407684.1:c.2210_2211del
  • NM_001407685.1:c.2084_2085del
  • NM_001407686.1:c.2084_2085del
  • NM_001407687.1:c.2084_2085del
  • NM_001407688.1:c.2084_2085del
  • NM_001407689.1:c.2084_2085del
  • NM_001407690.1:c.2084_2085del
  • NM_001407691.1:c.2084_2085del
  • NM_001407692.1:c.2069_2070del
  • NM_001407694.1:c.2069_2070del
  • NM_001407695.1:c.2069_2070del
  • NM_001407696.1:c.2069_2070del
  • NM_001407697.1:c.2069_2070del
  • NM_001407698.1:c.2069_2070del
  • NM_001407724.1:c.2069_2070del
  • NM_001407725.1:c.2069_2070del
  • NM_001407726.1:c.2069_2070del
  • NM_001407727.1:c.2069_2070del
  • NM_001407728.1:c.2069_2070del
  • NM_001407729.1:c.2069_2070del
  • NM_001407730.1:c.2069_2070del
  • NM_001407731.1:c.2069_2070del
  • NM_001407732.1:c.2069_2070del
  • NM_001407733.1:c.2069_2070del
  • NM_001407734.1:c.2069_2070del
  • NM_001407735.1:c.2069_2070del
  • NM_001407736.1:c.2069_2070del
  • NM_001407737.1:c.2069_2070del
  • NM_001407738.1:c.2069_2070del
  • NM_001407739.1:c.2069_2070del
  • NM_001407740.1:c.2066_2067del
  • NM_001407741.1:c.2066_2067del
  • NM_001407742.1:c.2066_2067del
  • NM_001407743.1:c.2066_2067del
  • NM_001407744.1:c.2066_2067del
  • NM_001407745.1:c.2066_2067del
  • NM_001407746.1:c.2066_2067del
  • NM_001407747.1:c.2066_2067del
  • NM_001407748.1:c.2066_2067del
  • NM_001407749.1:c.2066_2067del
  • NM_001407750.1:c.2069_2070del
  • NM_001407751.1:c.2069_2070del
  • NM_001407752.1:c.2069_2070del
  • NM_001407838.1:c.2066_2067del
  • NM_001407839.1:c.2066_2067del
  • NM_001407841.1:c.2066_2067del
  • NM_001407842.1:c.2066_2067del
  • NM_001407843.1:c.2066_2067del
  • NM_001407844.1:c.2066_2067del
  • NM_001407845.1:c.2066_2067del
  • NM_001407846.1:c.2066_2067del
  • NM_001407847.1:c.2066_2067del
  • NM_001407848.1:c.2066_2067del
  • NM_001407849.1:c.2066_2067del
  • NM_001407850.1:c.2069_2070del
  • NM_001407851.1:c.2069_2070del
  • NM_001407852.1:c.2069_2070del
  • NM_001407853.1:c.1997_1998del
  • NM_001407854.1:c.2210_2211del
  • NM_001407858.1:c.2210_2211del
  • NM_001407859.1:c.2210_2211del
  • NM_001407860.1:c.2207_2208del
  • NM_001407861.1:c.2207_2208del
  • NM_001407862.1:c.2009_2010del
  • NM_001407863.1:c.2087_2088del
  • NM_001407874.1:c.2006_2007del
  • NM_001407875.1:c.2006_2007del
  • NM_001407879.1:c.2000_2001del
  • NM_001407881.1:c.2000_2001del
  • NM_001407882.1:c.2000_2001del
  • NM_001407884.1:c.2000_2001del
  • NM_001407885.1:c.2000_2001del
  • NM_001407886.1:c.2000_2001del
  • NM_001407887.1:c.2000_2001del
  • NM_001407889.1:c.2000_2001del
  • NM_001407894.1:c.1997_1998del
  • NM_001407895.1:c.1997_1998del
  • NM_001407896.1:c.1997_1998del
  • NM_001407897.1:c.1997_1998del
  • NM_001407898.1:c.1997_1998del
  • NM_001407899.1:c.1997_1998del
  • NM_001407900.1:c.2000_2001del
  • NM_001407902.1:c.2000_2001del
  • NM_001407904.1:c.2000_2001del
  • NM_001407906.1:c.2000_2001del
  • NM_001407907.1:c.2000_2001del
  • NM_001407908.1:c.2000_2001del
  • NM_001407909.1:c.2000_2001del
  • NM_001407910.1:c.2000_2001del
  • NM_001407915.1:c.1997_1998del
  • NM_001407916.1:c.1997_1998del
  • NM_001407917.1:c.1997_1998del
  • NM_001407918.1:c.1997_1998del
  • NM_001407919.1:c.2087_2088del
  • NM_001407920.1:c.1946_1947del
  • NM_001407921.1:c.1946_1947del
  • NM_001407922.1:c.1946_1947del
  • NM_001407923.1:c.1946_1947del
  • NM_001407924.1:c.1946_1947del
  • NM_001407925.1:c.1946_1947del
  • NM_001407926.1:c.1946_1947del
  • NM_001407927.1:c.1946_1947del
  • NM_001407928.1:c.1946_1947del
  • NM_001407929.1:c.1946_1947del
  • NM_001407930.1:c.1943_1944del
  • NM_001407931.1:c.1943_1944del
  • NM_001407932.1:c.1943_1944del
  • NM_001407933.1:c.1946_1947del
  • NM_001407934.1:c.1943_1944del
  • NM_001407935.1:c.1946_1947del
  • NM_001407936.1:c.1943_1944del
  • NM_001407937.1:c.2087_2088del
  • NM_001407938.1:c.2087_2088del
  • NM_001407939.1:c.2087_2088del
  • NM_001407940.1:c.2084_2085del
  • NM_001407941.1:c.2084_2085del
  • NM_001407942.1:c.2069_2070del
  • NM_001407943.1:c.2066_2067del
  • NM_001407944.1:c.2069_2070del
  • NM_001407945.1:c.2069_2070del
  • NM_001407946.1:c.1877_1878del
  • NM_001407947.1:c.1877_1878del
  • NM_001407948.1:c.1877_1878del
  • NM_001407949.1:c.1877_1878del
  • NM_001407950.1:c.1877_1878del
  • NM_001407951.1:c.1877_1878del
  • NM_001407952.1:c.1877_1878del
  • NM_001407953.1:c.1877_1878del
  • NM_001407954.1:c.1874_1875del
  • NM_001407955.1:c.1874_1875del
  • NM_001407956.1:c.1874_1875del
  • NM_001407957.1:c.1877_1878del
  • NM_001407958.1:c.1874_1875del
  • NM_001407959.1:c.1829_1830del
  • NM_001407960.1:c.1829_1830del
  • NM_001407962.1:c.1826_1827del
  • NM_001407963.1:c.1829_1830del
  • NM_001407964.1:c.2066_2067del
  • NM_001407965.1:c.1706_1707del
  • NM_001407966.1:c.1322_1323del
  • NM_001407967.1:c.1322_1323del
  • NM_001407968.1:c.788-1182_788-1181del
  • NM_001407969.1:c.788-1182_788-1181del
  • NM_001407970.1:c.787+1423_787+1424del
  • NM_001407971.1:c.787+1423_787+1424del
  • NM_001407972.1:c.784+1423_784+1424del
  • NM_001407973.1:c.787+1423_787+1424del
  • NM_001407974.1:c.787+1423_787+1424del
  • NM_001407975.1:c.787+1423_787+1424del
  • NM_001407976.1:c.787+1423_787+1424del
  • NM_001407977.1:c.787+1423_787+1424del
  • NM_001407978.1:c.787+1423_787+1424del
  • NM_001407979.1:c.787+1423_787+1424del
  • NM_001407980.1:c.787+1423_787+1424del
  • NM_001407981.1:c.787+1423_787+1424del
  • NM_001407982.1:c.787+1423_787+1424del
  • NM_001407983.1:c.787+1423_787+1424del
  • NM_001407984.1:c.784+1423_784+1424del
  • NM_001407985.1:c.784+1423_784+1424del
  • NM_001407986.1:c.784+1423_784+1424del
  • NM_001407990.1:c.787+1423_787+1424del
  • NM_001407991.1:c.784+1423_784+1424del
  • NM_001407992.1:c.784+1423_784+1424del
  • NM_001407993.1:c.787+1423_787+1424del
  • NM_001408392.1:c.784+1423_784+1424del
  • NM_001408396.1:c.784+1423_784+1424del
  • NM_001408397.1:c.784+1423_784+1424del
  • NM_001408398.1:c.784+1423_784+1424del
  • NM_001408399.1:c.784+1423_784+1424del
  • NM_001408400.1:c.784+1423_784+1424del
  • NM_001408401.1:c.784+1423_784+1424del
  • NM_001408402.1:c.784+1423_784+1424del
  • NM_001408403.1:c.787+1423_787+1424del
  • NM_001408404.1:c.787+1423_787+1424del
  • NM_001408406.1:c.790+1420_790+1421del
  • NM_001408407.1:c.784+1423_784+1424del
  • NM_001408408.1:c.778+1423_778+1424del
  • NM_001408409.1:c.709+1423_709+1424del
  • NM_001408410.1:c.646+1423_646+1424del
  • NM_001408411.1:c.709+1423_709+1424del
  • NM_001408412.1:c.709+1423_709+1424del
  • NM_001408413.1:c.706+1423_706+1424del
  • NM_001408414.1:c.709+1423_709+1424del
  • NM_001408415.1:c.709+1423_709+1424del
  • NM_001408416.1:c.706+1423_706+1424del
  • NM_001408418.1:c.671-2289_671-2288del
  • NM_001408419.1:c.671-2289_671-2288del
  • NM_001408420.1:c.671-2289_671-2288del
  • NM_001408421.1:c.668-2289_668-2288del
  • NM_001408422.1:c.671-2289_671-2288del
  • NM_001408423.1:c.671-2289_671-2288del
  • NM_001408424.1:c.668-2289_668-2288del
  • NM_001408425.1:c.664+1423_664+1424del
  • NM_001408426.1:c.664+1423_664+1424del
  • NM_001408427.1:c.664+1423_664+1424del
  • NM_001408428.1:c.664+1423_664+1424del
  • NM_001408429.1:c.664+1423_664+1424del
  • NM_001408430.1:c.664+1423_664+1424del
  • NM_001408431.1:c.668-2289_668-2288del
  • NM_001408432.1:c.661+1423_661+1424del
  • NM_001408433.1:c.661+1423_661+1424del
  • NM_001408434.1:c.661+1423_661+1424del
  • NM_001408435.1:c.661+1423_661+1424del
  • NM_001408436.1:c.664+1423_664+1424del
  • NM_001408437.1:c.664+1423_664+1424del
  • NM_001408438.1:c.664+1423_664+1424del
  • NM_001408439.1:c.664+1423_664+1424del
  • NM_001408440.1:c.664+1423_664+1424del
  • NM_001408441.1:c.664+1423_664+1424del
  • NM_001408442.1:c.664+1423_664+1424del
  • NM_001408443.1:c.664+1423_664+1424del
  • NM_001408444.1:c.664+1423_664+1424del
  • NM_001408445.1:c.661+1423_661+1424del
  • NM_001408446.1:c.661+1423_661+1424del
  • NM_001408447.1:c.661+1423_661+1424del
  • NM_001408448.1:c.661+1423_661+1424del
  • NM_001408450.1:c.661+1423_661+1424del
  • NM_001408451.1:c.652+1423_652+1424del
  • NM_001408452.1:c.646+1423_646+1424del
  • NM_001408453.1:c.646+1423_646+1424del
  • NM_001408454.1:c.646+1423_646+1424del
  • NM_001408455.1:c.646+1423_646+1424del
  • NM_001408456.1:c.646+1423_646+1424del
  • NM_001408457.1:c.646+1423_646+1424del
  • NM_001408458.1:c.646+1423_646+1424del
  • NM_001408459.1:c.646+1423_646+1424del
  • NM_001408460.1:c.646+1423_646+1424del
  • NM_001408461.1:c.646+1423_646+1424del
  • NM_001408462.1:c.643+1423_643+1424del
  • NM_001408463.1:c.643+1423_643+1424del
  • NM_001408464.1:c.643+1423_643+1424del
  • NM_001408465.1:c.643+1423_643+1424del
  • NM_001408466.1:c.646+1423_646+1424del
  • NM_001408467.1:c.646+1423_646+1424del
  • NM_001408468.1:c.643+1423_643+1424del
  • NM_001408469.1:c.646+1423_646+1424del
  • NM_001408470.1:c.643+1423_643+1424del
  • NM_001408472.1:c.787+1423_787+1424del
  • NM_001408473.1:c.784+1423_784+1424del
  • NM_001408474.1:c.586+1423_586+1424del
  • NM_001408475.1:c.583+1423_583+1424del
  • NM_001408476.1:c.586+1423_586+1424del
  • NM_001408478.1:c.577+1423_577+1424del
  • NM_001408479.1:c.577+1423_577+1424del
  • NM_001408480.1:c.577+1423_577+1424del
  • NM_001408481.1:c.577+1423_577+1424del
  • NM_001408482.1:c.577+1423_577+1424del
  • NM_001408483.1:c.577+1423_577+1424del
  • NM_001408484.1:c.577+1423_577+1424del
  • NM_001408485.1:c.577+1423_577+1424del
  • NM_001408489.1:c.577+1423_577+1424del
  • NM_001408490.1:c.574+1423_574+1424del
  • NM_001408491.1:c.574+1423_574+1424del
  • NM_001408492.1:c.577+1423_577+1424del
  • NM_001408493.1:c.574+1423_574+1424del
  • NM_001408494.1:c.548-2289_548-2288del
  • NM_001408495.1:c.545-2289_545-2288del
  • NM_001408496.1:c.523+1423_523+1424del
  • NM_001408497.1:c.523+1423_523+1424del
  • NM_001408498.1:c.523+1423_523+1424del
  • NM_001408499.1:c.523+1423_523+1424del
  • NM_001408500.1:c.523+1423_523+1424del
  • NM_001408501.1:c.523+1423_523+1424del
  • NM_001408502.1:c.454+1423_454+1424del
  • NM_001408503.1:c.520+1423_520+1424del
  • NM_001408504.1:c.520+1423_520+1424del
  • NM_001408505.1:c.520+1423_520+1424del
  • NM_001408506.1:c.461-2289_461-2288del
  • NM_001408507.1:c.461-2289_461-2288del
  • NM_001408508.1:c.451+1423_451+1424del
  • NM_001408509.1:c.451+1423_451+1424del
  • NM_001408510.1:c.406+1423_406+1424del
  • NM_001408511.1:c.404-2289_404-2288del
  • NM_001408512.1:c.283+1423_283+1424del
  • NM_001408513.1:c.577+1423_577+1424del
  • NM_001408514.1:c.577+1423_577+1424del
  • NM_007294.4:c.2210_2211delMANE SELECT
  • NM_007297.4:c.2069_2070del
  • NM_007298.4:c.787+1423_787+1424del
  • NM_007299.4:c.787+1423_787+1424del
  • NM_007300.4:c.2210_2211del
  • NP_001394500.1:p.Thr666fs
  • NP_001394510.1:p.Thr737fs
  • NP_001394511.1:p.Thr737fs
  • NP_001394512.1:p.Thr737fs
  • NP_001394514.1:p.Thr737fs
  • NP_001394516.1:p.Thr736fs
  • NP_001394519.1:p.Thr736fs
  • NP_001394520.1:p.Thr736fs
  • NP_001394522.1:p.Thr737fs
  • NP_001394523.1:p.Thr737fs
  • NP_001394525.1:p.Thr737fs
  • NP_001394526.1:p.Thr737fs
  • NP_001394527.1:p.Thr737fs
  • NP_001394531.1:p.Thr737fs
  • NP_001394532.1:p.Thr737fs
  • NP_001394534.1:p.Thr737fs
  • NP_001394539.1:p.Thr736fs
  • NP_001394540.1:p.Thr736fs
  • NP_001394541.1:p.Thr736fs
  • NP_001394542.1:p.Thr736fs
  • NP_001394543.1:p.Thr736fs
  • NP_001394544.1:p.Thr736fs
  • NP_001394545.1:p.Thr737fs
  • NP_001394546.1:p.Thr737fs
  • NP_001394547.1:p.Thr737fs
  • NP_001394548.1:p.Thr737fs
  • NP_001394549.1:p.Thr737fs
  • NP_001394550.1:p.Thr737fs
  • NP_001394551.1:p.Thr737fs
  • NP_001394552.1:p.Thr737fs
  • NP_001394553.1:p.Thr737fs
  • NP_001394554.1:p.Thr737fs
  • NP_001394555.1:p.Thr737fs
  • NP_001394556.1:p.Thr736fs
  • NP_001394557.1:p.Thr736fs
  • NP_001394558.1:p.Thr736fs
  • NP_001394559.1:p.Thr736fs
  • NP_001394560.1:p.Thr736fs
  • NP_001394561.1:p.Thr736fs
  • NP_001394562.1:p.Thr736fs
  • NP_001394563.1:p.Thr736fs
  • NP_001394564.1:p.Thr736fs
  • NP_001394565.1:p.Thr736fs
  • NP_001394566.1:p.Thr736fs
  • NP_001394567.1:p.Thr736fs
  • NP_001394568.1:p.Thr737fs
  • NP_001394569.1:p.Thr737fs
  • NP_001394570.1:p.Thr737fs
  • NP_001394571.1:p.Thr737fs
  • NP_001394573.1:p.Thr736fs
  • NP_001394574.1:p.Thr736fs
  • NP_001394575.1:p.Thr734fs
  • NP_001394576.1:p.Thr734fs
  • NP_001394577.1:p.Thr696fs
  • NP_001394578.1:p.Thr695fs
  • NP_001394581.1:p.Thr737fs
  • NP_001394582.1:p.Thr711fs
  • NP_001394583.1:p.Thr711fs
  • NP_001394584.1:p.Thr711fs
  • NP_001394585.1:p.Thr711fs
  • NP_001394586.1:p.Thr711fs
  • NP_001394587.1:p.Thr711fs
  • NP_001394588.1:p.Thr710fs
  • NP_001394589.1:p.Thr710fs
  • NP_001394590.1:p.Thr710fs
  • NP_001394591.1:p.Thr710fs
  • NP_001394592.1:p.Thr711fs
  • NP_001394593.1:p.Thr696fs
  • NP_001394594.1:p.Thr696fs
  • NP_001394595.1:p.Thr696fs
  • NP_001394596.1:p.Thr696fs
  • NP_001394597.1:p.Thr696fs
  • NP_001394598.1:p.Thr696fs
  • NP_001394599.1:p.Thr695fs
  • NP_001394600.1:p.Thr695fs
  • NP_001394601.1:p.Thr695fs
  • NP_001394602.1:p.Thr695fs
  • NP_001394603.1:p.Thr696fs
  • NP_001394604.1:p.Thr696fs
  • NP_001394605.1:p.Thr696fs
  • NP_001394606.1:p.Thr696fs
  • NP_001394607.1:p.Thr696fs
  • NP_001394608.1:p.Thr696fs
  • NP_001394609.1:p.Thr696fs
  • NP_001394610.1:p.Thr696fs
  • NP_001394611.1:p.Thr696fs
  • NP_001394612.1:p.Thr696fs
  • NP_001394613.1:p.Thr737fs
  • NP_001394614.1:p.Thr695fs
  • NP_001394615.1:p.Thr695fs
  • NP_001394616.1:p.Thr695fs
  • NP_001394617.1:p.Thr695fs
  • NP_001394618.1:p.Thr695fs
  • NP_001394619.1:p.Thr695fs
  • NP_001394620.1:p.Thr695fs
  • NP_001394621.1:p.Thr690fs
  • NP_001394623.1:p.Thr690fs
  • NP_001394624.1:p.Thr690fs
  • NP_001394625.1:p.Thr690fs
  • NP_001394626.1:p.Thr690fs
  • NP_001394627.1:p.Thr690fs
  • NP_001394653.1:p.Thr690fs
  • NP_001394654.1:p.Thr690fs
  • NP_001394655.1:p.Thr690fs
  • NP_001394656.1:p.Thr690fs
  • NP_001394657.1:p.Thr690fs
  • NP_001394658.1:p.Thr690fs
  • NP_001394659.1:p.Thr690fs
  • NP_001394660.1:p.Thr690fs
  • NP_001394661.1:p.Thr690fs
  • NP_001394662.1:p.Thr690fs
  • NP_001394663.1:p.Thr690fs
  • NP_001394664.1:p.Thr690fs
  • NP_001394665.1:p.Thr690fs
  • NP_001394666.1:p.Thr690fs
  • NP_001394667.1:p.Thr690fs
  • NP_001394668.1:p.Thr690fs
  • NP_001394669.1:p.Thr689fs
  • NP_001394670.1:p.Thr689fs
  • NP_001394671.1:p.Thr689fs
  • NP_001394672.1:p.Thr689fs
  • NP_001394673.1:p.Thr689fs
  • NP_001394674.1:p.Thr689fs
  • NP_001394675.1:p.Thr689fs
  • NP_001394676.1:p.Thr689fs
  • NP_001394677.1:p.Thr689fs
  • NP_001394678.1:p.Thr689fs
  • NP_001394679.1:p.Thr690fs
  • NP_001394680.1:p.Thr690fs
  • NP_001394681.1:p.Thr690fs
  • NP_001394767.1:p.Thr689fs
  • NP_001394768.1:p.Thr689fs
  • NP_001394770.1:p.Thr689fs
  • NP_001394771.1:p.Thr689fs
  • NP_001394772.1:p.Thr689fs
  • NP_001394773.1:p.Thr689fs
  • NP_001394774.1:p.Thr689fs
  • NP_001394775.1:p.Thr689fs
  • NP_001394776.1:p.Thr689fs
  • NP_001394777.1:p.Thr689fs
  • NP_001394778.1:p.Thr689fs
  • NP_001394779.1:p.Thr690fs
  • NP_001394780.1:p.Thr690fs
  • NP_001394781.1:p.Thr690fs
  • NP_001394782.1:p.Thr666fs
  • NP_001394783.1:p.Thr737fs
  • NP_001394787.1:p.Thr737fs
  • NP_001394788.1:p.Thr737fs
  • NP_001394789.1:p.Thr736fs
  • NP_001394790.1:p.Thr736fs
  • NP_001394791.1:p.Thr670fs
  • NP_001394792.1:p.Thr696fs
  • NP_001394803.1:p.Thr669fs
  • NP_001394804.1:p.Thr669fs
  • NP_001394808.1:p.Thr667fs
  • NP_001394810.1:p.Thr667fs
  • NP_001394811.1:p.Thr667fs
  • NP_001394813.1:p.Thr667fs
  • NP_001394814.1:p.Thr667fs
  • NP_001394815.1:p.Thr667fs
  • NP_001394816.1:p.Thr667fs
  • NP_001394818.1:p.Thr667fs
  • NP_001394823.1:p.Thr666fs
  • NP_001394824.1:p.Thr666fs
  • NP_001394825.1:p.Thr666fs
  • NP_001394826.1:p.Thr666fs
  • NP_001394827.1:p.Thr666fs
  • NP_001394828.1:p.Thr666fs
  • NP_001394829.1:p.Thr667fs
  • NP_001394831.1:p.Thr667fs
  • NP_001394833.1:p.Thr667fs
  • NP_001394835.1:p.Thr667fs
  • NP_001394836.1:p.Thr667fs
  • NP_001394837.1:p.Thr667fs
  • NP_001394838.1:p.Thr667fs
  • NP_001394839.1:p.Thr667fs
  • NP_001394844.1:p.Thr666fs
  • NP_001394845.1:p.Thr666fs
  • NP_001394846.1:p.Thr666fs
  • NP_001394847.1:p.Thr666fs
  • NP_001394848.1:p.Thr696fs
  • NP_001394849.1:p.Thr649fs
  • NP_001394850.1:p.Thr649fs
  • NP_001394851.1:p.Thr649fs
  • NP_001394852.1:p.Thr649fs
  • NP_001394853.1:p.Thr649fs
  • NP_001394854.1:p.Thr649fs
  • NP_001394855.1:p.Thr649fs
  • NP_001394856.1:p.Thr649fs
  • NP_001394857.1:p.Thr649fs
  • NP_001394858.1:p.Thr649fs
  • NP_001394859.1:p.Thr648fs
  • NP_001394860.1:p.Thr648fs
  • NP_001394861.1:p.Thr648fs
  • NP_001394862.1:p.Thr649fs
  • NP_001394863.1:p.Thr648fs
  • NP_001394864.1:p.Thr649fs
  • NP_001394865.1:p.Thr648fs
  • NP_001394866.1:p.Thr696fs
  • NP_001394867.1:p.Thr696fs
  • NP_001394868.1:p.Thr696fs
  • NP_001394869.1:p.Thr695fs
  • NP_001394870.1:p.Thr695fs
  • NP_001394871.1:p.Thr690fs
  • NP_001394872.1:p.Thr689fs
  • NP_001394873.1:p.Thr690fs
  • NP_001394874.1:p.Thr690fs
  • NP_001394875.1:p.Thr626fs
  • NP_001394876.1:p.Thr626fs
  • NP_001394877.1:p.Thr626fs
  • NP_001394878.1:p.Thr626fs
  • NP_001394879.1:p.Thr626fs
  • NP_001394880.1:p.Thr626fs
  • NP_001394881.1:p.Thr626fs
  • NP_001394882.1:p.Thr626fs
  • NP_001394883.1:p.Thr625fs
  • NP_001394884.1:p.Thr625fs
  • NP_001394885.1:p.Thr625fs
  • NP_001394886.1:p.Thr626fs
  • NP_001394887.1:p.Thr625fs
  • NP_001394888.1:p.Thr610fs
  • NP_001394889.1:p.Thr610fs
  • NP_001394891.1:p.Thr609fs
  • NP_001394892.1:p.Thr610fs
  • NP_001394893.1:p.Thr689fs
  • NP_001394894.1:p.Thr569fs
  • NP_001394895.1:p.Thr441fs
  • NP_001394896.1:p.Thr441fs
  • NP_009225.1:p.Thr737Serfs
  • NP_009225.1:p.Thr737fs
  • NP_009228.2:p.Thr690fs
  • NP_009231.2:p.Thr737fs
  • LRG_292t1:c.2209_2210del
  • LRG_292:g.124663_124664del
  • LRG_292p1:p.Thr737Serfs
  • NC_000017.10:g.41245337_41245338del
  • NC_000017.10:g.41245337_41245338delTG
  • NC_000017.10:g.41245338_41245339del
  • NC_000017.10:g.41245338_41245339del
  • NM_007294.3:c.2209_2210delAC
  • NM_007294.3:c.2210_2211delCA
  • NR_027676.1:n.2345_2346delAC
  • U14680.1:n.2329_2330delCA
  • p.T737Sfs*2
Nucleotide change:
2329delCA
Protein change:
T441fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2329&base_change=del CA; dbSNP: rs80357654
NCBI 1000 Genomes Browser:
rs80357654
Molecular consequence:
  • NM_001407571.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2129_2130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2129_2130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2129_2130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2129_2130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2132_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2207_2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2009_2010del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2006_2007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2006_2007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2000_2001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.1997_1998del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.1943_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.1943_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.1943_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.1943_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.1943_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2087_2088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2084_2085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.1874_1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.1874_1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.1874_1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.1877_1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.1874_1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.1829_1830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.1829_1830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.1826_1827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.1829_1830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2066_2067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1706_1707del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1322_1323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1322_1323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2210_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-1182_788-1181del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1182_788-1181del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1420_790+1421del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1423_778+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1423_709+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1423_709+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1423_709+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1423_706+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1423_709+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1423_709+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1423_706+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2289_671-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2289_671-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2289_671-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2289_668-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2289_671-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2289_671-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2289_668-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2289_668-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1423_664+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1423_661+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1423_652+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1423_646+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1423_643+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1423_784+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1423_586+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1423_583+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1423_586+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1423_574+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1423_574+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1423_574+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2289_548-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2289_545-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1423_523+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1423_454+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1423_520+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1423_520+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1423_520+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2289_461-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2289_461-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1423_451+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1423_451+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1423_406+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2289_404-2288del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1423_283+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1423_577+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1423_787+1424del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186930Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 16, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, et al.

J Clin Oncol. 1998 Jul;16(7):2417-25.

PubMed [citation]
PMID:
9667259

Details of each submission

From Ambry Genetics, SCV000186930.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.2210_2211delCA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2210 to 2211, causing a translational frameshift with a predicted alternate stop codon (p.T737Sfs*2). This alteration was identified in a female diagnosed with bilateral breast cancer and ovarian cancer (Frank TS et al. J. Clin. Oncol. 1998; 16:2417-25). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 13, 2024