NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (15 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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

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

Record status:: current
Accession:: RCV000019253.31

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]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039541	OMIM	no assertion criteria provided	Pathogenic (May 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000109435	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 28, 2013)	germline	clinical testing
SCV000145702	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing	Wagner et al. Int. J. Cancer, in press,
SCV000299490	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000326442	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000564365	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 28, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000733664	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001499627	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002580575	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 28, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002762794	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 9, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV003921010	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 3, 2023)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004215063	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 13, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244143	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing
SCV005045949	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005061276	Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)	no assertion criteria provided	Pathogenic (May 24, 2021)	germline	case-control	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	14	1	not provided	not provided	not provided	clinical testing, case-control
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	3	not provided	not provided	3	not provided	literature only, clinical testing
not provided	germline	unknown	not provided	53	not provided	not provided	not provided	clinical testing, curation
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Austrian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

Janezic SA, Ziogas A, Krumroy LM, Krasner M, Plummer SJ, Cohen P, Gildea M, Barker D, Haile R, Casey G, Anton-Culver H.

Hum Mol Genet. 1999 May;8(5):889-97.

PubMed [citation]

PMID:: 10196379

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039541.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Caucasian patient with a positive family history of breast or ovarian cancer (604370) in a first-degree relative, Janezic et al. (1999) identified a 962delCTCA mutation in the BRCA1 gene.

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

From Sharing Clinical Reports Project (SCRP), SCV000109435.3

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

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145702.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	2	not provided	not provided	clinical testing	not provided
4	Ashkenazi	1	not provided	not provided	clinical testing	not provided
5	Austrian	1	not provided	not provided	clinical testing	not provided
6	Austrian	1	not provided	not provided	clinical testing	not provided
7	Caucasian	1	not provided	not provided	clinical testing	not provided
8	Caucasian	2	not provided	not provided	clinical testing	not provided
9	Caucasian	1	not provided	not provided	clinical testing	not provided
10	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
11	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299490.2

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

Description

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

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326442.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	53	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564365.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733664.1

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

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

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499627.1

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

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

From MGZ Medical Genetics Center, SCV002580575.1

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

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

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV002762794.2

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

Description

PVS1, PS4_STR, PM2_SUP

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV003921010.2

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

Description

Criteria applied: PVS1,PS4,PM2_SUP

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

From Baylor Genetics, SCV004215063.1

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

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

From BRCAlab, Lund University, SCV004244143.1

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

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

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045949.1

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

Description

PVS1; PM2_supporting; PM5_PTC_Strong

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

From Molecular Oncology, Hospital Universitario Central de Asturias (HUCA), SCV005061276.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

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

Last Updated: Oct 13, 2024

Relating variation to medicine