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NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 20, 2022
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:
RCV000131872.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)]

NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)

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.843_846del (p.Ser282fs)
HGVS:
  • NC_000017.11:g.43094685_43094688del
  • NG_005905.2:g.123296_123299del
  • NM_001407571.1:c.630_633del
  • NM_001407581.1:c.843_846del
  • NM_001407582.1:c.843_846del
  • NM_001407583.1:c.843_846del
  • NM_001407585.1:c.843_846del
  • NM_001407587.1:c.840_843del
  • NM_001407590.1:c.840_843del
  • NM_001407591.1:c.840_843del
  • NM_001407593.1:c.843_846del
  • NM_001407594.1:c.843_846del
  • NM_001407596.1:c.843_846del
  • NM_001407597.1:c.843_846del
  • NM_001407598.1:c.843_846del
  • NM_001407602.1:c.843_846del
  • NM_001407603.1:c.843_846del
  • NM_001407605.1:c.843_846del
  • NM_001407610.1:c.840_843del
  • NM_001407611.1:c.840_843del
  • NM_001407612.1:c.840_843del
  • NM_001407613.1:c.840_843del
  • NM_001407614.1:c.840_843del
  • NM_001407615.1:c.840_843del
  • NM_001407616.1:c.843_846del
  • NM_001407617.1:c.843_846del
  • NM_001407618.1:c.843_846del
  • NM_001407619.1:c.843_846del
  • NM_001407620.1:c.843_846del
  • NM_001407621.1:c.843_846del
  • NM_001407622.1:c.843_846del
  • NM_001407623.1:c.843_846del
  • NM_001407624.1:c.843_846del
  • NM_001407625.1:c.843_846del
  • NM_001407626.1:c.843_846del
  • NM_001407627.1:c.840_843del
  • NM_001407628.1:c.840_843del
  • NM_001407629.1:c.840_843del
  • NM_001407630.1:c.840_843del
  • NM_001407631.1:c.840_843del
  • NM_001407632.1:c.840_843del
  • NM_001407633.1:c.840_843del
  • NM_001407634.1:c.840_843del
  • NM_001407635.1:c.840_843del
  • NM_001407636.1:c.840_843del
  • NM_001407637.1:c.840_843del
  • NM_001407638.1:c.840_843del
  • NM_001407639.1:c.843_846del
  • NM_001407640.1:c.843_846del
  • NM_001407641.1:c.843_846del
  • NM_001407642.1:c.843_846del
  • NM_001407644.1:c.840_843del
  • NM_001407645.1:c.840_843del
  • NM_001407646.1:c.834_837del
  • NM_001407647.1:c.834_837del
  • NM_001407648.1:c.720_723del
  • NM_001407649.1:c.717_720del
  • NM_001407652.1:c.843_846del
  • NM_001407653.1:c.765_768del
  • NM_001407654.1:c.765_768del
  • NM_001407655.1:c.765_768del
  • NM_001407656.1:c.765_768del
  • NM_001407657.1:c.765_768del
  • NM_001407658.1:c.765_768del
  • NM_001407659.1:c.762_765del
  • NM_001407660.1:c.762_765del
  • NM_001407661.1:c.762_765del
  • NM_001407662.1:c.762_765del
  • NM_001407663.1:c.765_768del
  • NM_001407664.1:c.720_723del
  • NM_001407665.1:c.720_723del
  • NM_001407666.1:c.720_723del
  • NM_001407667.1:c.720_723del
  • NM_001407668.1:c.720_723del
  • NM_001407669.1:c.720_723del
  • NM_001407670.1:c.717_720del
  • NM_001407671.1:c.717_720del
  • NM_001407672.1:c.717_720del
  • NM_001407673.1:c.717_720del
  • NM_001407674.1:c.720_723del
  • NM_001407675.1:c.720_723del
  • NM_001407676.1:c.720_723del
  • NM_001407677.1:c.720_723del
  • NM_001407678.1:c.720_723del
  • NM_001407679.1:c.720_723del
  • NM_001407680.1:c.720_723del
  • NM_001407681.1:c.720_723del
  • NM_001407682.1:c.720_723del
  • NM_001407683.1:c.720_723del
  • NM_001407684.1:c.843_846del
  • NM_001407685.1:c.717_720del
  • NM_001407686.1:c.717_720del
  • NM_001407687.1:c.717_720del
  • NM_001407688.1:c.717_720del
  • NM_001407689.1:c.717_720del
  • NM_001407690.1:c.717_720del
  • NM_001407691.1:c.717_720del
  • NM_001407692.1:c.702_705del
  • NM_001407694.1:c.702_705del
  • NM_001407695.1:c.702_705del
  • NM_001407696.1:c.702_705del
  • NM_001407697.1:c.702_705del
  • NM_001407698.1:c.702_705del
  • NM_001407724.1:c.702_705del
  • NM_001407725.1:c.702_705del
  • NM_001407726.1:c.702_705del
  • NM_001407727.1:c.702_705del
  • NM_001407728.1:c.702_705del
  • NM_001407729.1:c.702_705del
  • NM_001407730.1:c.702_705del
  • NM_001407731.1:c.702_705del
  • NM_001407732.1:c.702_705del
  • NM_001407733.1:c.702_705del
  • NM_001407734.1:c.702_705del
  • NM_001407735.1:c.702_705del
  • NM_001407736.1:c.702_705del
  • NM_001407737.1:c.702_705del
  • NM_001407738.1:c.702_705del
  • NM_001407739.1:c.702_705del
  • NM_001407740.1:c.699_702del
  • NM_001407741.1:c.699_702del
  • NM_001407742.1:c.699_702del
  • NM_001407743.1:c.699_702del
  • NM_001407744.1:c.699_702del
  • NM_001407745.1:c.699_702del
  • NM_001407746.1:c.699_702del
  • NM_001407747.1:c.699_702del
  • NM_001407748.1:c.699_702del
  • NM_001407749.1:c.699_702del
  • NM_001407750.1:c.702_705del
  • NM_001407751.1:c.702_705del
  • NM_001407752.1:c.702_705del
  • NM_001407838.1:c.699_702del
  • NM_001407839.1:c.699_702del
  • NM_001407841.1:c.699_702del
  • NM_001407842.1:c.699_702del
  • NM_001407843.1:c.699_702del
  • NM_001407844.1:c.699_702del
  • NM_001407845.1:c.699_702del
  • NM_001407846.1:c.699_702del
  • NM_001407847.1:c.699_702del
  • NM_001407848.1:c.699_702del
  • NM_001407849.1:c.699_702del
  • NM_001407850.1:c.702_705del
  • NM_001407851.1:c.702_705del
  • NM_001407852.1:c.702_705del
  • NM_001407853.1:c.630_633del
  • NM_001407854.1:c.843_846del
  • NM_001407858.1:c.843_846del
  • NM_001407859.1:c.843_846del
  • NM_001407860.1:c.840_843del
  • NM_001407861.1:c.840_843del
  • NM_001407862.1:c.642_645del
  • NM_001407863.1:c.720_723del
  • NM_001407874.1:c.639_642del
  • NM_001407875.1:c.639_642del
  • NM_001407879.1:c.633_636del
  • NM_001407881.1:c.633_636del
  • NM_001407882.1:c.633_636del
  • NM_001407884.1:c.633_636del
  • NM_001407885.1:c.633_636del
  • NM_001407886.1:c.633_636del
  • NM_001407887.1:c.633_636del
  • NM_001407889.1:c.633_636del
  • NM_001407894.1:c.630_633del
  • NM_001407895.1:c.630_633del
  • NM_001407896.1:c.630_633del
  • NM_001407897.1:c.630_633del
  • NM_001407898.1:c.630_633del
  • NM_001407899.1:c.630_633del
  • NM_001407900.1:c.633_636del
  • NM_001407902.1:c.633_636del
  • NM_001407904.1:c.633_636del
  • NM_001407906.1:c.633_636del
  • NM_001407907.1:c.633_636del
  • NM_001407908.1:c.633_636del
  • NM_001407909.1:c.633_636del
  • NM_001407910.1:c.633_636del
  • NM_001407915.1:c.630_633del
  • NM_001407916.1:c.630_633del
  • NM_001407917.1:c.630_633del
  • NM_001407918.1:c.630_633del
  • NM_001407919.1:c.720_723del
  • NM_001407920.1:c.579_582del
  • NM_001407921.1:c.579_582del
  • NM_001407922.1:c.579_582del
  • NM_001407923.1:c.579_582del
  • NM_001407924.1:c.579_582del
  • NM_001407925.1:c.579_582del
  • NM_001407926.1:c.579_582del
  • NM_001407927.1:c.579_582del
  • NM_001407928.1:c.579_582del
  • NM_001407929.1:c.579_582del
  • NM_001407930.1:c.576_579del
  • NM_001407931.1:c.576_579del
  • NM_001407932.1:c.576_579del
  • NM_001407933.1:c.579_582del
  • NM_001407934.1:c.576_579del
  • NM_001407935.1:c.579_582del
  • NM_001407936.1:c.576_579del
  • NM_001407937.1:c.720_723del
  • NM_001407938.1:c.720_723del
  • NM_001407939.1:c.720_723del
  • NM_001407940.1:c.717_720del
  • NM_001407941.1:c.717_720del
  • NM_001407942.1:c.702_705del
  • NM_001407943.1:c.699_702del
  • NM_001407944.1:c.702_705del
  • NM_001407945.1:c.702_705del
  • NM_001407946.1:c.510_513del
  • NM_001407947.1:c.510_513del
  • NM_001407948.1:c.510_513del
  • NM_001407949.1:c.510_513del
  • NM_001407950.1:c.510_513del
  • NM_001407951.1:c.510_513del
  • NM_001407952.1:c.510_513del
  • NM_001407953.1:c.510_513del
  • NM_001407954.1:c.507_510del
  • NM_001407955.1:c.507_510del
  • NM_001407956.1:c.507_510del
  • NM_001407957.1:c.510_513del
  • NM_001407958.1:c.507_510del
  • NM_001407959.1:c.462_465del
  • NM_001407960.1:c.462_465del
  • NM_001407962.1:c.459_462del
  • NM_001407963.1:c.462_465del
  • NM_001407964.1:c.699_702del
  • NM_001407965.1:c.339_342del
  • NM_001407966.1:c.-46_-43del
  • NM_001407967.1:c.-46_-43del
  • NM_001407968.1:c.787+56_787+59del
  • NM_001407969.1:c.787+56_787+59del
  • NM_001407970.1:c.787+56_787+59del
  • NM_001407971.1:c.787+56_787+59del
  • NM_001407972.1:c.784+56_784+59del
  • NM_001407973.1:c.787+56_787+59del
  • NM_001407974.1:c.787+56_787+59del
  • NM_001407975.1:c.787+56_787+59del
  • NM_001407976.1:c.787+56_787+59del
  • NM_001407977.1:c.787+56_787+59del
  • NM_001407978.1:c.787+56_787+59del
  • NM_001407979.1:c.787+56_787+59del
  • NM_001407980.1:c.787+56_787+59del
  • NM_001407981.1:c.787+56_787+59del
  • NM_001407982.1:c.787+56_787+59del
  • NM_001407983.1:c.787+56_787+59del
  • NM_001407984.1:c.784+56_784+59del
  • NM_001407985.1:c.784+56_784+59del
  • NM_001407986.1:c.784+56_784+59del
  • NM_001407990.1:c.787+56_787+59del
  • NM_001407991.1:c.784+56_784+59del
  • NM_001407992.1:c.784+56_784+59del
  • NM_001407993.1:c.787+56_787+59del
  • NM_001408392.1:c.784+56_784+59del
  • NM_001408396.1:c.784+56_784+59del
  • NM_001408397.1:c.784+56_784+59del
  • NM_001408398.1:c.784+56_784+59del
  • NM_001408399.1:c.784+56_784+59del
  • NM_001408400.1:c.784+56_784+59del
  • NM_001408401.1:c.784+56_784+59del
  • NM_001408402.1:c.784+56_784+59del
  • NM_001408403.1:c.787+56_787+59del
  • NM_001408404.1:c.787+56_787+59del
  • NM_001408406.1:c.790+53_790+56del
  • NM_001408407.1:c.784+56_784+59del
  • NM_001408408.1:c.778+56_778+59del
  • NM_001408409.1:c.709+56_709+59del
  • NM_001408410.1:c.646+56_646+59del
  • NM_001408411.1:c.709+56_709+59del
  • NM_001408412.1:c.709+56_709+59del
  • NM_001408413.1:c.706+56_706+59del
  • NM_001408414.1:c.709+56_709+59del
  • NM_001408415.1:c.709+56_709+59del
  • NM_001408416.1:c.706+56_706+59del
  • NM_001408418.1:c.670+1158_670+1161del
  • NM_001408419.1:c.670+1158_670+1161del
  • NM_001408420.1:c.670+1158_670+1161del
  • NM_001408421.1:c.667+1158_667+1161del
  • NM_001408422.1:c.670+1158_670+1161del
  • NM_001408423.1:c.670+1158_670+1161del
  • NM_001408424.1:c.667+1158_667+1161del
  • NM_001408425.1:c.664+56_664+59del
  • NM_001408426.1:c.664+56_664+59del
  • NM_001408427.1:c.664+56_664+59del
  • NM_001408428.1:c.664+56_664+59del
  • NM_001408429.1:c.664+56_664+59del
  • NM_001408430.1:c.664+56_664+59del
  • NM_001408431.1:c.667+1158_667+1161del
  • NM_001408432.1:c.661+56_661+59del
  • NM_001408433.1:c.661+56_661+59del
  • NM_001408434.1:c.661+56_661+59del
  • NM_001408435.1:c.661+56_661+59del
  • NM_001408436.1:c.664+56_664+59del
  • NM_001408437.1:c.664+56_664+59del
  • NM_001408438.1:c.664+56_664+59del
  • NM_001408439.1:c.664+56_664+59del
  • NM_001408440.1:c.664+56_664+59del
  • NM_001408441.1:c.664+56_664+59del
  • NM_001408442.1:c.664+56_664+59del
  • NM_001408443.1:c.664+56_664+59del
  • NM_001408444.1:c.664+56_664+59del
  • NM_001408445.1:c.661+56_661+59del
  • NM_001408446.1:c.661+56_661+59del
  • NM_001408447.1:c.661+56_661+59del
  • NM_001408448.1:c.661+56_661+59del
  • NM_001408450.1:c.661+56_661+59del
  • NM_001408451.1:c.652+56_652+59del
  • NM_001408452.1:c.646+56_646+59del
  • NM_001408453.1:c.646+56_646+59del
  • NM_001408454.1:c.646+56_646+59del
  • NM_001408455.1:c.646+56_646+59del
  • NM_001408456.1:c.646+56_646+59del
  • NM_001408457.1:c.646+56_646+59del
  • NM_001408458.1:c.646+56_646+59del
  • NM_001408459.1:c.646+56_646+59del
  • NM_001408460.1:c.646+56_646+59del
  • NM_001408461.1:c.646+56_646+59del
  • NM_001408462.1:c.643+56_643+59del
  • NM_001408463.1:c.643+56_643+59del
  • NM_001408464.1:c.643+56_643+59del
  • NM_001408465.1:c.643+56_643+59del
  • NM_001408466.1:c.646+56_646+59del
  • NM_001408467.1:c.646+56_646+59del
  • NM_001408468.1:c.643+56_643+59del
  • NM_001408469.1:c.646+56_646+59del
  • NM_001408470.1:c.643+56_643+59del
  • NM_001408472.1:c.787+56_787+59del
  • NM_001408473.1:c.784+56_784+59del
  • NM_001408474.1:c.586+56_586+59del
  • NM_001408475.1:c.583+56_583+59del
  • NM_001408476.1:c.586+56_586+59del
  • NM_001408478.1:c.577+56_577+59del
  • NM_001408479.1:c.577+56_577+59del
  • NM_001408480.1:c.577+56_577+59del
  • NM_001408481.1:c.577+56_577+59del
  • NM_001408482.1:c.577+56_577+59del
  • NM_001408483.1:c.577+56_577+59del
  • NM_001408484.1:c.577+56_577+59del
  • NM_001408485.1:c.577+56_577+59del
  • NM_001408489.1:c.577+56_577+59del
  • NM_001408490.1:c.574+56_574+59del
  • NM_001408491.1:c.574+56_574+59del
  • NM_001408492.1:c.577+56_577+59del
  • NM_001408493.1:c.574+56_574+59del
  • NM_001408494.1:c.548-3656_548-3653del
  • NM_001408495.1:c.545-3656_545-3653del
  • NM_001408496.1:c.523+56_523+59del
  • NM_001408497.1:c.523+56_523+59del
  • NM_001408498.1:c.523+56_523+59del
  • NM_001408499.1:c.523+56_523+59del
  • NM_001408500.1:c.523+56_523+59del
  • NM_001408501.1:c.523+56_523+59del
  • NM_001408502.1:c.454+56_454+59del
  • NM_001408503.1:c.520+56_520+59del
  • NM_001408504.1:c.520+56_520+59del
  • NM_001408505.1:c.520+56_520+59del
  • NM_001408506.1:c.460+1158_460+1161del
  • NM_001408507.1:c.460+1158_460+1161del
  • NM_001408508.1:c.451+56_451+59del
  • NM_001408509.1:c.451+56_451+59del
  • NM_001408510.1:c.406+56_406+59del
  • NM_001408511.1:c.404-3656_404-3653del
  • NM_001408512.1:c.283+56_283+59del
  • NM_001408513.1:c.577+56_577+59del
  • NM_001408514.1:c.577+56_577+59del
  • NM_007294.4:c.843_846delMANE SELECT
  • NM_007297.4:c.702_705del
  • NM_007298.4:c.787+56_787+59del
  • NM_007299.4:c.787+56_787+59del
  • NM_007300.4:c.843_846del
  • NP_001394500.1:p.Ser211fs
  • NP_001394510.1:p.Ser282fs
  • NP_001394511.1:p.Ser282fs
  • NP_001394512.1:p.Ser282fs
  • NP_001394514.1:p.Ser282fs
  • NP_001394516.1:p.Ser281fs
  • NP_001394519.1:p.Ser281fs
  • NP_001394520.1:p.Ser281fs
  • NP_001394522.1:p.Ser282fs
  • NP_001394523.1:p.Ser282fs
  • NP_001394525.1:p.Ser282fs
  • NP_001394526.1:p.Ser282fs
  • NP_001394527.1:p.Ser282fs
  • NP_001394531.1:p.Ser282fs
  • NP_001394532.1:p.Ser282fs
  • NP_001394534.1:p.Ser282fs
  • NP_001394539.1:p.Ser281fs
  • NP_001394540.1:p.Ser281fs
  • NP_001394541.1:p.Ser281fs
  • NP_001394542.1:p.Ser281fs
  • NP_001394543.1:p.Ser281fs
  • NP_001394544.1:p.Ser281fs
  • NP_001394545.1:p.Ser282fs
  • NP_001394546.1:p.Ser282fs
  • NP_001394547.1:p.Ser282fs
  • NP_001394548.1:p.Ser282fs
  • NP_001394549.1:p.Ser282fs
  • NP_001394550.1:p.Ser282fs
  • NP_001394551.1:p.Ser282fs
  • NP_001394552.1:p.Ser282fs
  • NP_001394553.1:p.Ser282fs
  • NP_001394554.1:p.Ser282fs
  • NP_001394555.1:p.Ser282fs
  • NP_001394556.1:p.Ser281fs
  • NP_001394557.1:p.Ser281fs
  • NP_001394558.1:p.Ser281fs
  • NP_001394559.1:p.Ser281fs
  • NP_001394560.1:p.Ser281fs
  • NP_001394561.1:p.Ser281fs
  • NP_001394562.1:p.Ser281fs
  • NP_001394563.1:p.Ser281fs
  • NP_001394564.1:p.Ser281fs
  • NP_001394565.1:p.Ser281fs
  • NP_001394566.1:p.Ser281fs
  • NP_001394567.1:p.Ser281fs
  • NP_001394568.1:p.Ser282fs
  • NP_001394569.1:p.Ser282fs
  • NP_001394570.1:p.Ser282fs
  • NP_001394571.1:p.Ser282fs
  • NP_001394573.1:p.Ser281fs
  • NP_001394574.1:p.Ser281fs
  • NP_001394575.1:p.Ser279fs
  • NP_001394576.1:p.Ser279fs
  • NP_001394577.1:p.Ser241fs
  • NP_001394578.1:p.Ser240fs
  • NP_001394581.1:p.Ser282fs
  • NP_001394582.1:p.Ser256fs
  • NP_001394583.1:p.Ser256fs
  • NP_001394584.1:p.Ser256fs
  • NP_001394585.1:p.Ser256fs
  • NP_001394586.1:p.Ser256fs
  • NP_001394587.1:p.Ser256fs
  • NP_001394588.1:p.Ser255fs
  • NP_001394589.1:p.Ser255fs
  • NP_001394590.1:p.Ser255fs
  • NP_001394591.1:p.Ser255fs
  • NP_001394592.1:p.Ser256fs
  • NP_001394593.1:p.Ser241fs
  • NP_001394594.1:p.Ser241fs
  • NP_001394595.1:p.Ser241fs
  • NP_001394596.1:p.Ser241fs
  • NP_001394597.1:p.Ser241fs
  • NP_001394598.1:p.Ser241fs
  • NP_001394599.1:p.Ser240fs
  • NP_001394600.1:p.Ser240fs
  • NP_001394601.1:p.Ser240fs
  • NP_001394602.1:p.Ser240fs
  • NP_001394603.1:p.Ser241fs
  • NP_001394604.1:p.Ser241fs
  • NP_001394605.1:p.Ser241fs
  • NP_001394606.1:p.Ser241fs
  • NP_001394607.1:p.Ser241fs
  • NP_001394608.1:p.Ser241fs
  • NP_001394609.1:p.Ser241fs
  • NP_001394610.1:p.Ser241fs
  • NP_001394611.1:p.Ser241fs
  • NP_001394612.1:p.Ser241fs
  • NP_001394613.1:p.Ser282fs
  • NP_001394614.1:p.Ser240fs
  • NP_001394615.1:p.Ser240fs
  • NP_001394616.1:p.Ser240fs
  • NP_001394617.1:p.Ser240fs
  • NP_001394618.1:p.Ser240fs
  • NP_001394619.1:p.Ser240fs
  • NP_001394620.1:p.Ser240fs
  • NP_001394621.1:p.Ser235fs
  • NP_001394623.1:p.Ser235fs
  • NP_001394624.1:p.Ser235fs
  • NP_001394625.1:p.Ser235fs
  • NP_001394626.1:p.Ser235fs
  • NP_001394627.1:p.Ser235fs
  • NP_001394653.1:p.Ser235fs
  • NP_001394654.1:p.Ser235fs
  • NP_001394655.1:p.Ser235fs
  • NP_001394656.1:p.Ser235fs
  • NP_001394657.1:p.Ser235fs
  • NP_001394658.1:p.Ser235fs
  • NP_001394659.1:p.Ser235fs
  • NP_001394660.1:p.Ser235fs
  • NP_001394661.1:p.Ser235fs
  • NP_001394662.1:p.Ser235fs
  • NP_001394663.1:p.Ser235fs
  • NP_001394664.1:p.Ser235fs
  • NP_001394665.1:p.Ser235fs
  • NP_001394666.1:p.Ser235fs
  • NP_001394667.1:p.Ser235fs
  • NP_001394668.1:p.Ser235fs
  • NP_001394669.1:p.Ser234fs
  • NP_001394670.1:p.Ser234fs
  • NP_001394671.1:p.Ser234fs
  • NP_001394672.1:p.Ser234fs
  • NP_001394673.1:p.Ser234fs
  • NP_001394674.1:p.Ser234fs
  • NP_001394675.1:p.Ser234fs
  • NP_001394676.1:p.Ser234fs
  • NP_001394677.1:p.Ser234fs
  • NP_001394678.1:p.Ser234fs
  • NP_001394679.1:p.Ser235fs
  • NP_001394680.1:p.Ser235fs
  • NP_001394681.1:p.Ser235fs
  • NP_001394767.1:p.Ser234fs
  • NP_001394768.1:p.Ser234fs
  • NP_001394770.1:p.Ser234fs
  • NP_001394771.1:p.Ser234fs
  • NP_001394772.1:p.Ser234fs
  • NP_001394773.1:p.Ser234fs
  • NP_001394774.1:p.Ser234fs
  • NP_001394775.1:p.Ser234fs
  • NP_001394776.1:p.Ser234fs
  • NP_001394777.1:p.Ser234fs
  • NP_001394778.1:p.Ser234fs
  • NP_001394779.1:p.Ser235fs
  • NP_001394780.1:p.Ser235fs
  • NP_001394781.1:p.Ser235fs
  • NP_001394782.1:p.Ser211fs
  • NP_001394783.1:p.Ser282fs
  • NP_001394787.1:p.Ser282fs
  • NP_001394788.1:p.Ser282fs
  • NP_001394789.1:p.Ser281fs
  • NP_001394790.1:p.Ser281fs
  • NP_001394791.1:p.Ser215fs
  • NP_001394792.1:p.Ser241fs
  • NP_001394803.1:p.Ser214fs
  • NP_001394804.1:p.Ser214fs
  • NP_001394808.1:p.Ser212fs
  • NP_001394810.1:p.Ser212fs
  • NP_001394811.1:p.Ser212fs
  • NP_001394813.1:p.Ser212fs
  • NP_001394814.1:p.Ser212fs
  • NP_001394815.1:p.Ser212fs
  • NP_001394816.1:p.Ser212fs
  • NP_001394818.1:p.Ser212fs
  • NP_001394823.1:p.Ser211fs
  • NP_001394824.1:p.Ser211fs
  • NP_001394825.1:p.Ser211fs
  • NP_001394826.1:p.Ser211fs
  • NP_001394827.1:p.Ser211fs
  • NP_001394828.1:p.Ser211fs
  • NP_001394829.1:p.Ser212fs
  • NP_001394831.1:p.Ser212fs
  • NP_001394833.1:p.Ser212fs
  • NP_001394835.1:p.Ser212fs
  • NP_001394836.1:p.Ser212fs
  • NP_001394837.1:p.Ser212fs
  • NP_001394838.1:p.Ser212fs
  • NP_001394839.1:p.Ser212fs
  • NP_001394844.1:p.Ser211fs
  • NP_001394845.1:p.Ser211fs
  • NP_001394846.1:p.Ser211fs
  • NP_001394847.1:p.Ser211fs
  • NP_001394848.1:p.Ser241fs
  • NP_001394849.1:p.Ser194fs
  • NP_001394850.1:p.Ser194fs
  • NP_001394851.1:p.Ser194fs
  • NP_001394852.1:p.Ser194fs
  • NP_001394853.1:p.Ser194fs
  • NP_001394854.1:p.Ser194fs
  • NP_001394855.1:p.Ser194fs
  • NP_001394856.1:p.Ser194fs
  • NP_001394857.1:p.Ser194fs
  • NP_001394858.1:p.Ser194fs
  • NP_001394859.1:p.Ser193fs
  • NP_001394860.1:p.Ser193fs
  • NP_001394861.1:p.Ser193fs
  • NP_001394862.1:p.Ser194fs
  • NP_001394863.1:p.Ser193fs
  • NP_001394864.1:p.Ser194fs
  • NP_001394865.1:p.Ser193fs
  • NP_001394866.1:p.Ser241fs
  • NP_001394867.1:p.Ser241fs
  • NP_001394868.1:p.Ser241fs
  • NP_001394869.1:p.Ser240fs
  • NP_001394870.1:p.Ser240fs
  • NP_001394871.1:p.Ser235fs
  • NP_001394872.1:p.Ser234fs
  • NP_001394873.1:p.Ser235fs
  • NP_001394874.1:p.Ser235fs
  • NP_001394875.1:p.Ser171fs
  • NP_001394876.1:p.Ser171fs
  • NP_001394877.1:p.Ser171fs
  • NP_001394878.1:p.Ser171fs
  • NP_001394879.1:p.Ser171fs
  • NP_001394880.1:p.Ser171fs
  • NP_001394881.1:p.Ser171fs
  • NP_001394882.1:p.Ser171fs
  • NP_001394883.1:p.Ser170fs
  • NP_001394884.1:p.Ser170fs
  • NP_001394885.1:p.Ser170fs
  • NP_001394886.1:p.Ser171fs
  • NP_001394887.1:p.Ser170fs
  • NP_001394888.1:p.Ser155fs
  • NP_001394889.1:p.Ser155fs
  • NP_001394891.1:p.Ser154fs
  • NP_001394892.1:p.Ser155fs
  • NP_001394893.1:p.Ser234fs
  • NP_001394894.1:p.Ser114fs
  • NP_009225.1:p.Ser282Tyrfs
  • NP_009225.1:p.Ser282fs
  • NP_009228.2:p.Ser235fs
  • NP_009231.2:p.Ser282fs
  • LRG_292t1:c.843_846del
  • LRG_292:g.123296_123299del
  • LRG_292p1:p.Ser282Tyrfs
  • NC_000017.10:g.41246702_41246705del
  • NC_000017.10:g.41246702_41246705delTGAG
  • NC_000017.11:g.43094685_43094688delTGAG
  • NM_007294.3:c.843_846delCTCA
  • NM_007294.3:c.843_846delCTCA
  • NM_007294.4:c.843_846delCTCA
  • NR_027676.1:n.979_982delCTCA
  • U14680.1:n.962_965delCTCA
  • p.S282Yfs*15
  • p.S282YfsX15
  • p.Ser282Tyrfs*15
Nucleotide change:
962del4
Protein change:
S114fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 962&base_change=del CTCA; OMIM: 113705.0024; dbSNP: rs80357919
NCBI 1000 Genomes Browser:
rs80357919
Molecular consequence:
  • NM_001407966.1:c.-46_-43del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407967.1:c.-46_-43del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407571.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.834_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.834_837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.762_765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.762_765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.762_765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.762_765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.765_768del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.642_645del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.639_642del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.639_642del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.633_636del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.630_633del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.576_579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.576_579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.576_579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.576_579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.576_579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.720_723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.717_720del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.507_510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.507_510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.507_510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.510_513del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.507_510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.462_465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.462_465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.462_465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.699_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.339_342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.702_705del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.843_846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+53_790+56del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+56_778+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+56_709+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+56_709+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+56_709+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+56_706+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+56_709+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+56_709+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+56_706+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1158_670+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1158_670+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1158_670+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1158_667+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1158_670+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1158_670+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1158_667+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1158_667+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+56_664+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+56_661+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+56_652+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+56_646+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+56_643+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+56_784+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+56_586+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+56_583+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+56_586+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+56_574+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+56_574+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+56_574+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3656_548-3653del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3656_545-3653del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+56_523+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+56_454+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+56_520+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+56_520+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+56_520+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1158_460+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1158_460+1161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+56_451+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+56_451+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+56_406+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3656_404-3653del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+56_283+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+56_577+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+56_787+59del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+56_787+59del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186927Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 20, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000683371Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 15, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.

BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.

PubMed [citation]
PMID:
21232165
PMCID:
PMC3025939

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J, Krivokuća A, Brotto K, Mališić E, Radulović S, Branković-Magić M.

J Hum Genet. 2013 Aug;58(8):501-7. doi: 10.1038/jhg.2013.30. Epub 2013 May 2.

PubMed [citation]
PMID:
23635950
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000186927.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The c.843_846delCTCA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of four nucleotides at positions 843 to 846, causing a translational frameshift with a predicted alternate stop codon (p.S282Yfs*15). This mutation has been reported in multiple individuals with hereditary breast and/or ovarian cancer (Janezic SA et al. Hum. Mol. Genet. 1999;8:889-97; Zhang S et al. Gynecol. Oncol. 2011 May;121:353-7; Wagner TM et al. Int. J. Cancer. 1998 July;77:354-60; Tihomirova L et al. Adv Med Sci. 2014 Mar;59:114-9; Pern F et al. PLoS ONE. 2012 Oct;7:e47993; Stegel V et al. BMC Med. Genet. 2011 Jan;12:9; Dobricic J et al. J. Hum. Genet. 2013 Aug;58:501-7; Meisel C et al. Arch. Gynecol. Obstet. 2017 May;295:1227-1238). Of note, this mutation is also designated as 962del4 in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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

From Color Diagnostics, LLC DBA Color Health, SCV000683371.3

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

Description

This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 3, 2024