NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (5 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:: RCV000077056.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)]

NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)

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.1086_1141del (p.Asn363fs)

HGVS:

NC_000017.11:g.43094395_43094450del
NG_005905.2:g.123539_123594del
NM_001407571.1:c.873_928del
NM_001407581.1:c.1086_1141del
NM_001407582.1:c.1086_1141del
NM_001407583.1:c.1086_1141del
NM_001407585.1:c.1086_1141del
NM_001407587.1:c.1083_1138del
NM_001407590.1:c.1083_1138del
NM_001407591.1:c.1083_1138del
NM_001407593.1:c.1086_1141del
NM_001407594.1:c.1086_1141del
NM_001407596.1:c.1086_1141del
NM_001407597.1:c.1086_1141del
NM_001407598.1:c.1086_1141del
NM_001407602.1:c.1086_1141del
NM_001407603.1:c.1086_1141del
NM_001407605.1:c.1086_1141del
NM_001407610.1:c.1083_1138del
NM_001407611.1:c.1083_1138del
NM_001407612.1:c.1083_1138del
NM_001407613.1:c.1083_1138del
NM_001407614.1:c.1083_1138del
NM_001407615.1:c.1083_1138del
NM_001407616.1:c.1086_1141del
NM_001407617.1:c.1086_1141del
NM_001407618.1:c.1086_1141del
NM_001407619.1:c.1086_1141del
NM_001407620.1:c.1086_1141del
NM_001407621.1:c.1086_1141del
NM_001407622.1:c.1086_1141del
NM_001407623.1:c.1086_1141del
NM_001407624.1:c.1086_1141del
NM_001407625.1:c.1086_1141del
NM_001407626.1:c.1086_1141del
NM_001407627.1:c.1083_1138del
NM_001407628.1:c.1083_1138del
NM_001407629.1:c.1083_1138del
NM_001407630.1:c.1083_1138del
NM_001407631.1:c.1083_1138del
NM_001407632.1:c.1083_1138del
NM_001407633.1:c.1083_1138del
NM_001407634.1:c.1083_1138del
NM_001407635.1:c.1083_1138del
NM_001407636.1:c.1083_1138del
NM_001407637.1:c.1083_1138del
NM_001407638.1:c.1083_1138del
NM_001407639.1:c.1086_1141del
NM_001407640.1:c.1086_1141del
NM_001407641.1:c.1086_1141del
NM_001407642.1:c.1086_1141del
NM_001407644.1:c.1083_1138del
NM_001407645.1:c.1083_1138del
NM_001407646.1:c.1077_1132del
NM_001407647.1:c.1077_1132del
NM_001407648.1:c.963_1018del
NM_001407649.1:c.960_1015del
NM_001407652.1:c.1086_1141del
NM_001407653.1:c.1008_1063del
NM_001407654.1:c.1008_1063del
NM_001407655.1:c.1008_1063del
NM_001407656.1:c.1008_1063del
NM_001407657.1:c.1008_1063del
NM_001407658.1:c.1008_1063del
NM_001407659.1:c.1005_1060del
NM_001407660.1:c.1005_1060del
NM_001407661.1:c.1005_1060del
NM_001407662.1:c.1005_1060del
NM_001407663.1:c.1008_1063del
NM_001407664.1:c.963_1018del
NM_001407665.1:c.963_1018del
NM_001407666.1:c.963_1018del
NM_001407667.1:c.963_1018del
NM_001407668.1:c.963_1018del
NM_001407669.1:c.963_1018del
NM_001407670.1:c.960_1015del
NM_001407671.1:c.960_1015del
NM_001407672.1:c.960_1015del
NM_001407673.1:c.960_1015del
NM_001407674.1:c.963_1018del
NM_001407675.1:c.963_1018del
NM_001407676.1:c.963_1018del
NM_001407677.1:c.963_1018del
NM_001407678.1:c.963_1018del
NM_001407679.1:c.963_1018del
NM_001407680.1:c.963_1018del
NM_001407681.1:c.963_1018del
NM_001407682.1:c.963_1018del
NM_001407683.1:c.963_1018del
NM_001407684.1:c.1086_1141del
NM_001407685.1:c.960_1015del
NM_001407686.1:c.960_1015del
NM_001407687.1:c.960_1015del
NM_001407688.1:c.960_1015del
NM_001407689.1:c.960_1015del
NM_001407690.1:c.960_1015del
NM_001407691.1:c.960_1015del
NM_001407692.1:c.945_1000del
NM_001407694.1:c.945_1000del
NM_001407695.1:c.945_1000del
NM_001407696.1:c.945_1000del
NM_001407697.1:c.945_1000del
NM_001407698.1:c.945_1000del
NM_001407724.1:c.945_1000del
NM_001407725.1:c.945_1000del
NM_001407726.1:c.945_1000del
NM_001407727.1:c.945_1000del
NM_001407728.1:c.945_1000del
NM_001407729.1:c.945_1000del
NM_001407730.1:c.945_1000del
NM_001407731.1:c.945_1000del
NM_001407732.1:c.945_1000del
NM_001407733.1:c.945_1000del
NM_001407734.1:c.945_1000del
NM_001407735.1:c.945_1000del
NM_001407736.1:c.945_1000del
NM_001407737.1:c.945_1000del
NM_001407738.1:c.945_1000del
NM_001407739.1:c.945_1000del
NM_001407740.1:c.942_997del
NM_001407741.1:c.942_997del
NM_001407742.1:c.942_997del
NM_001407743.1:c.942_997del
NM_001407744.1:c.942_997del
NM_001407745.1:c.942_997del
NM_001407746.1:c.942_997del
NM_001407747.1:c.942_997del
NM_001407748.1:c.942_997del
NM_001407749.1:c.942_997del
NM_001407750.1:c.945_1000del
NM_001407751.1:c.945_1000del
NM_001407752.1:c.945_1000del
NM_001407838.1:c.942_997del
NM_001407839.1:c.942_997del
NM_001407841.1:c.942_997del
NM_001407842.1:c.942_997del
NM_001407843.1:c.942_997del
NM_001407844.1:c.942_997del
NM_001407845.1:c.942_997del
NM_001407846.1:c.942_997del
NM_001407847.1:c.942_997del
NM_001407848.1:c.942_997del
NM_001407849.1:c.942_997del
NM_001407850.1:c.945_1000del
NM_001407851.1:c.945_1000del
NM_001407852.1:c.945_1000del
NM_001407853.1:c.873_928del
NM_001407854.1:c.1086_1141del
NM_001407858.1:c.1086_1141del
NM_001407859.1:c.1086_1141del
NM_001407860.1:c.1083_1138del
NM_001407861.1:c.1083_1138del
NM_001407862.1:c.885_940del
NM_001407863.1:c.963_1018del
NM_001407874.1:c.882_937del
NM_001407875.1:c.882_937del
NM_001407879.1:c.876_931del
NM_001407881.1:c.876_931del
NM_001407882.1:c.876_931del
NM_001407884.1:c.876_931del
NM_001407885.1:c.876_931del
NM_001407886.1:c.876_931del
NM_001407887.1:c.876_931del
NM_001407889.1:c.876_931del
NM_001407894.1:c.873_928del
NM_001407895.1:c.873_928del
NM_001407896.1:c.873_928del
NM_001407897.1:c.873_928del
NM_001407898.1:c.873_928del
NM_001407899.1:c.873_928del
NM_001407900.1:c.876_931del
NM_001407902.1:c.876_931del
NM_001407904.1:c.876_931del
NM_001407906.1:c.876_931del
NM_001407907.1:c.876_931del
NM_001407908.1:c.876_931del
NM_001407909.1:c.876_931del
NM_001407910.1:c.876_931del
NM_001407915.1:c.873_928del
NM_001407916.1:c.873_928del
NM_001407917.1:c.873_928del
NM_001407918.1:c.873_928del
NM_001407919.1:c.963_1018del
NM_001407920.1:c.822_877del
NM_001407921.1:c.822_877del
NM_001407922.1:c.822_877del
NM_001407923.1:c.822_877del
NM_001407924.1:c.822_877del
NM_001407925.1:c.822_877del
NM_001407926.1:c.822_877del
NM_001407927.1:c.822_877del
NM_001407928.1:c.822_877del
NM_001407929.1:c.822_877del
NM_001407930.1:c.819_874del
NM_001407931.1:c.819_874del
NM_001407932.1:c.819_874del
NM_001407933.1:c.822_877del
NM_001407934.1:c.819_874del
NM_001407935.1:c.822_877del
NM_001407936.1:c.819_874del
NM_001407937.1:c.963_1018del
NM_001407938.1:c.963_1018del
NM_001407939.1:c.963_1018del
NM_001407940.1:c.960_1015del
NM_001407941.1:c.960_1015del
NM_001407942.1:c.945_1000del
NM_001407943.1:c.942_997del
NM_001407944.1:c.945_1000del
NM_001407945.1:c.945_1000del
NM_001407946.1:c.753_808del
NM_001407947.1:c.753_808del
NM_001407948.1:c.753_808del
NM_001407949.1:c.753_808del
NM_001407950.1:c.753_808del
NM_001407951.1:c.753_808del
NM_001407952.1:c.753_808del
NM_001407953.1:c.753_808del
NM_001407954.1:c.750_805del
NM_001407955.1:c.750_805del
NM_001407956.1:c.750_805del
NM_001407957.1:c.753_808del
NM_001407958.1:c.750_805del
NM_001407959.1:c.705_760del
NM_001407960.1:c.705_760del
NM_001407962.1:c.702_757del
NM_001407963.1:c.705_760del
NM_001407964.1:c.942_997del
NM_001407965.1:c.582_637del
NM_001407966.1:c.198_253del
NM_001407967.1:c.198_253del
NM_001407968.1:c.787+299_787+354del
NM_001407969.1:c.787+299_787+354del
NM_001407970.1:c.787+299_787+354del
NM_001407971.1:c.787+299_787+354del
NM_001407972.1:c.784+299_784+354del
NM_001407973.1:c.787+299_787+354del
NM_001407974.1:c.787+299_787+354del
NM_001407975.1:c.787+299_787+354del
NM_001407976.1:c.787+299_787+354del
NM_001407977.1:c.787+299_787+354del
NM_001407978.1:c.787+299_787+354del
NM_001407979.1:c.787+299_787+354del
NM_001407980.1:c.787+299_787+354del
NM_001407981.1:c.787+299_787+354del
NM_001407982.1:c.787+299_787+354del
NM_001407983.1:c.787+299_787+354del
NM_001407984.1:c.784+299_784+354del
NM_001407985.1:c.784+299_784+354del
NM_001407986.1:c.784+299_784+354del
NM_001407990.1:c.787+299_787+354del
NM_001407991.1:c.784+299_784+354del
NM_001407992.1:c.784+299_784+354del
NM_001407993.1:c.787+299_787+354del
NM_001408392.1:c.784+299_784+354del
NM_001408396.1:c.784+299_784+354del
NM_001408397.1:c.784+299_784+354del
NM_001408398.1:c.784+299_784+354del
NM_001408399.1:c.784+299_784+354del
NM_001408400.1:c.784+299_784+354del
NM_001408401.1:c.784+299_784+354del
NM_001408402.1:c.784+299_784+354del
NM_001408403.1:c.787+299_787+354del
NM_001408404.1:c.787+299_787+354del
NM_001408406.1:c.790+296_790+351del
NM_001408407.1:c.784+299_784+354del
NM_001408408.1:c.778+299_778+354del
NM_001408409.1:c.709+299_709+354del
NM_001408410.1:c.646+299_646+354del
NM_001408411.1:c.709+299_709+354del
NM_001408412.1:c.709+299_709+354del
NM_001408413.1:c.706+299_706+354del
NM_001408414.1:c.709+299_709+354del
NM_001408415.1:c.709+299_709+354del
NM_001408416.1:c.706+299_706+354del
NM_001408418.1:c.670+1401_670+1456del
NM_001408419.1:c.670+1401_670+1456del
NM_001408420.1:c.670+1401_670+1456del
NM_001408421.1:c.667+1401_667+1456del
NM_001408422.1:c.670+1401_670+1456del
NM_001408423.1:c.670+1401_670+1456del
NM_001408424.1:c.667+1401_667+1456del
NM_001408425.1:c.664+299_664+354del
NM_001408426.1:c.664+299_664+354del
NM_001408427.1:c.664+299_664+354del
NM_001408428.1:c.664+299_664+354del
NM_001408429.1:c.664+299_664+354del
NM_001408430.1:c.664+299_664+354del
NM_001408431.1:c.667+1401_667+1456del
NM_001408432.1:c.661+299_661+354del
NM_001408433.1:c.661+299_661+354del
NM_001408434.1:c.661+299_661+354del
NM_001408435.1:c.661+299_661+354del
NM_001408436.1:c.664+299_664+354del
NM_001408437.1:c.664+299_664+354del
NM_001408438.1:c.664+299_664+354del
NM_001408439.1:c.664+299_664+354del
NM_001408440.1:c.664+299_664+354del
NM_001408441.1:c.664+299_664+354del
NM_001408442.1:c.664+299_664+354del
NM_001408443.1:c.664+299_664+354del
NM_001408444.1:c.664+299_664+354del
NM_001408445.1:c.661+299_661+354del
NM_001408446.1:c.661+299_661+354del
NM_001408447.1:c.661+299_661+354del
NM_001408448.1:c.661+299_661+354del
NM_001408450.1:c.661+299_661+354del
NM_001408451.1:c.652+299_652+354del
NM_001408452.1:c.646+299_646+354del
NM_001408453.1:c.646+299_646+354del
NM_001408454.1:c.646+299_646+354del
NM_001408455.1:c.646+299_646+354del
NM_001408456.1:c.646+299_646+354del
NM_001408457.1:c.646+299_646+354del
NM_001408458.1:c.646+299_646+354del
NM_001408459.1:c.646+299_646+354del
NM_001408460.1:c.646+299_646+354del
NM_001408461.1:c.646+299_646+354del
NM_001408462.1:c.643+299_643+354del
NM_001408463.1:c.643+299_643+354del
NM_001408464.1:c.643+299_643+354del
NM_001408465.1:c.643+299_643+354del
NM_001408466.1:c.646+299_646+354del
NM_001408467.1:c.646+299_646+354del
NM_001408468.1:c.643+299_643+354del
NM_001408469.1:c.646+299_646+354del
NM_001408470.1:c.643+299_643+354del
NM_001408472.1:c.787+299_787+354del
NM_001408473.1:c.784+299_784+354del
NM_001408474.1:c.586+299_586+354del
NM_001408475.1:c.583+299_583+354del
NM_001408476.1:c.586+299_586+354del
NM_001408478.1:c.577+299_577+354del
NM_001408479.1:c.577+299_577+354del
NM_001408480.1:c.577+299_577+354del
NM_001408481.1:c.577+299_577+354del
NM_001408482.1:c.577+299_577+354del
NM_001408483.1:c.577+299_577+354del
NM_001408484.1:c.577+299_577+354del
NM_001408485.1:c.577+299_577+354del
NM_001408489.1:c.577+299_577+354del
NM_001408490.1:c.574+299_574+354del
NM_001408491.1:c.574+299_574+354del
NM_001408492.1:c.577+299_577+354del
NM_001408493.1:c.574+299_574+354del
NM_001408494.1:c.548-3413_548-3358del
NM_001408495.1:c.545-3413_545-3358del
NM_001408496.1:c.523+299_523+354del
NM_001408497.1:c.523+299_523+354del
NM_001408498.1:c.523+299_523+354del
NM_001408499.1:c.523+299_523+354del
NM_001408500.1:c.523+299_523+354del
NM_001408501.1:c.523+299_523+354del
NM_001408502.1:c.454+299_454+354del
NM_001408503.1:c.520+299_520+354del
NM_001408504.1:c.520+299_520+354del
NM_001408505.1:c.520+299_520+354del
NM_001408506.1:c.460+1401_460+1456del
NM_001408507.1:c.460+1401_460+1456del
NM_001408508.1:c.451+299_451+354del
NM_001408509.1:c.451+299_451+354del
NM_001408510.1:c.406+299_406+354del
NM_001408511.1:c.404-3413_404-3358del
NM_001408512.1:c.283+299_283+354del
NM_001408513.1:c.577+299_577+354del
NM_001408514.1:c.577+299_577+354del
NM_007294.4:c.1086_1141delMANE SELECT
NM_007297.4:c.945_1000del
NM_007298.4:c.787+299_787+354del
NM_007299.4:c.787+299_787+354del
NM_007300.4:c.1086_1141del
NP_001394500.1:p.Asn292fs
NP_001394510.1:p.Asn363fs
NP_001394511.1:p.Asn363fs
NP_001394512.1:p.Asn363fs
NP_001394514.1:p.Asn363fs
NP_001394516.1:p.Asn362fs
NP_001394519.1:p.Asn362fs
NP_001394520.1:p.Asn362fs
NP_001394522.1:p.Asn363fs
NP_001394523.1:p.Asn363fs
NP_001394525.1:p.Asn363fs
NP_001394526.1:p.Asn363fs
NP_001394527.1:p.Asn363fs
NP_001394531.1:p.Asn363fs
NP_001394532.1:p.Asn363fs
NP_001394534.1:p.Asn363fs
NP_001394539.1:p.Asn362fs
NP_001394540.1:p.Asn362fs
NP_001394541.1:p.Asn362fs
NP_001394542.1:p.Asn362fs
NP_001394543.1:p.Asn362fs
NP_001394544.1:p.Asn362fs
NP_001394545.1:p.Asn363fs
NP_001394546.1:p.Asn363fs
NP_001394547.1:p.Asn363fs
NP_001394548.1:p.Asn363fs
NP_001394549.1:p.Asn363fs
NP_001394550.1:p.Asn363fs
NP_001394551.1:p.Asn363fs
NP_001394552.1:p.Asn363fs
NP_001394553.1:p.Asn363fs
NP_001394554.1:p.Asn363fs
NP_001394555.1:p.Asn363fs
NP_001394556.1:p.Asn362fs
NP_001394557.1:p.Asn362fs
NP_001394558.1:p.Asn362fs
NP_001394559.1:p.Asn362fs
NP_001394560.1:p.Asn362fs
NP_001394561.1:p.Asn362fs
NP_001394562.1:p.Asn362fs
NP_001394563.1:p.Asn362fs
NP_001394564.1:p.Asn362fs
NP_001394565.1:p.Asn362fs
NP_001394566.1:p.Asn362fs
NP_001394567.1:p.Asn362fs
NP_001394568.1:p.Asn363fs
NP_001394569.1:p.Asn363fs
NP_001394570.1:p.Asn363fs
NP_001394571.1:p.Asn363fs
NP_001394573.1:p.Asn362fs
NP_001394574.1:p.Asn362fs
NP_001394575.1:p.Asn360fs
NP_001394576.1:p.Asn360fs
NP_001394577.1:p.Asn322fs
NP_001394578.1:p.Asn321fs
NP_001394581.1:p.Asn363fs
NP_001394582.1:p.Asn337fs
NP_001394583.1:p.Asn337fs
NP_001394584.1:p.Asn337fs
NP_001394585.1:p.Asn337fs
NP_001394586.1:p.Asn337fs
NP_001394587.1:p.Asn337fs
NP_001394588.1:p.Asn336fs
NP_001394589.1:p.Asn336fs
NP_001394590.1:p.Asn336fs
NP_001394591.1:p.Asn336fs
NP_001394592.1:p.Asn337fs
NP_001394593.1:p.Asn322fs
NP_001394594.1:p.Asn322fs
NP_001394595.1:p.Asn322fs
NP_001394596.1:p.Asn322fs
NP_001394597.1:p.Asn322fs
NP_001394598.1:p.Asn322fs
NP_001394599.1:p.Asn321fs
NP_001394600.1:p.Asn321fs
NP_001394601.1:p.Asn321fs
NP_001394602.1:p.Asn321fs
NP_001394603.1:p.Asn322fs
NP_001394604.1:p.Asn322fs
NP_001394605.1:p.Asn322fs
NP_001394606.1:p.Asn322fs
NP_001394607.1:p.Asn322fs
NP_001394608.1:p.Asn322fs
NP_001394609.1:p.Asn322fs
NP_001394610.1:p.Asn322fs
NP_001394611.1:p.Asn322fs
NP_001394612.1:p.Asn322fs
NP_001394613.1:p.Asn363fs
NP_001394614.1:p.Asn321fs
NP_001394615.1:p.Asn321fs
NP_001394616.1:p.Asn321fs
NP_001394617.1:p.Asn321fs
NP_001394618.1:p.Asn321fs
NP_001394619.1:p.Asn321fs
NP_001394620.1:p.Asn321fs
NP_001394621.1:p.Asn316fs
NP_001394623.1:p.Asn316fs
NP_001394624.1:p.Asn316fs
NP_001394625.1:p.Asn316fs
NP_001394626.1:p.Asn316fs
NP_001394627.1:p.Asn316fs
NP_001394653.1:p.Asn316fs
NP_001394654.1:p.Asn316fs
NP_001394655.1:p.Asn316fs
NP_001394656.1:p.Asn316fs
NP_001394657.1:p.Asn316fs
NP_001394658.1:p.Asn316fs
NP_001394659.1:p.Asn316fs
NP_001394660.1:p.Asn316fs
NP_001394661.1:p.Asn316fs
NP_001394662.1:p.Asn316fs
NP_001394663.1:p.Asn316fs
NP_001394664.1:p.Asn316fs
NP_001394665.1:p.Asn316fs
NP_001394666.1:p.Asn316fs
NP_001394667.1:p.Asn316fs
NP_001394668.1:p.Asn316fs
NP_001394669.1:p.Asn315fs
NP_001394670.1:p.Asn315fs
NP_001394671.1:p.Asn315fs
NP_001394672.1:p.Asn315fs
NP_001394673.1:p.Asn315fs
NP_001394674.1:p.Asn315fs
NP_001394675.1:p.Asn315fs
NP_001394676.1:p.Asn315fs
NP_001394677.1:p.Asn315fs
NP_001394678.1:p.Asn315fs
NP_001394679.1:p.Asn316fs
NP_001394680.1:p.Asn316fs
NP_001394681.1:p.Asn316fs
NP_001394767.1:p.Asn315fs
NP_001394768.1:p.Asn315fs
NP_001394770.1:p.Asn315fs
NP_001394771.1:p.Asn315fs
NP_001394772.1:p.Asn315fs
NP_001394773.1:p.Asn315fs
NP_001394774.1:p.Asn315fs
NP_001394775.1:p.Asn315fs
NP_001394776.1:p.Asn315fs
NP_001394777.1:p.Asn315fs
NP_001394778.1:p.Asn315fs
NP_001394779.1:p.Asn316fs
NP_001394780.1:p.Asn316fs
NP_001394781.1:p.Asn316fs
NP_001394782.1:p.Asn292fs
NP_001394783.1:p.Asn363fs
NP_001394787.1:p.Asn363fs
NP_001394788.1:p.Asn363fs
NP_001394789.1:p.Asn362fs
NP_001394790.1:p.Asn362fs
NP_001394791.1:p.Asn296fs
NP_001394792.1:p.Asn322fs
NP_001394803.1:p.Asn295fs
NP_001394804.1:p.Asn295fs
NP_001394808.1:p.Asn293fs
NP_001394810.1:p.Asn293fs
NP_001394811.1:p.Asn293fs
NP_001394813.1:p.Asn293fs
NP_001394814.1:p.Asn293fs
NP_001394815.1:p.Asn293fs
NP_001394816.1:p.Asn293fs
NP_001394818.1:p.Asn293fs
NP_001394823.1:p.Asn292fs
NP_001394824.1:p.Asn292fs
NP_001394825.1:p.Asn292fs
NP_001394826.1:p.Asn292fs
NP_001394827.1:p.Asn292fs
NP_001394828.1:p.Asn292fs
NP_001394829.1:p.Asn293fs
NP_001394831.1:p.Asn293fs
NP_001394833.1:p.Asn293fs
NP_001394835.1:p.Asn293fs
NP_001394836.1:p.Asn293fs
NP_001394837.1:p.Asn293fs
NP_001394838.1:p.Asn293fs
NP_001394839.1:p.Asn293fs
NP_001394844.1:p.Asn292fs
NP_001394845.1:p.Asn292fs
NP_001394846.1:p.Asn292fs
NP_001394847.1:p.Asn292fs
NP_001394848.1:p.Asn322fs
NP_001394849.1:p.Asn275fs
NP_001394850.1:p.Asn275fs
NP_001394851.1:p.Asn275fs
NP_001394852.1:p.Asn275fs
NP_001394853.1:p.Asn275fs
NP_001394854.1:p.Asn275fs
NP_001394855.1:p.Asn275fs
NP_001394856.1:p.Asn275fs
NP_001394857.1:p.Asn275fs
NP_001394858.1:p.Asn275fs
NP_001394859.1:p.Asn274fs
NP_001394860.1:p.Asn274fs
NP_001394861.1:p.Asn274fs
NP_001394862.1:p.Asn275fs
NP_001394863.1:p.Asn274fs
NP_001394864.1:p.Asn275fs
NP_001394865.1:p.Asn274fs
NP_001394866.1:p.Asn322fs
NP_001394867.1:p.Asn322fs
NP_001394868.1:p.Asn322fs
NP_001394869.1:p.Asn321fs
NP_001394870.1:p.Asn321fs
NP_001394871.1:p.Asn316fs
NP_001394872.1:p.Asn315fs
NP_001394873.1:p.Asn316fs
NP_001394874.1:p.Asn316fs
NP_001394875.1:p.Asn252fs
NP_001394876.1:p.Asn252fs
NP_001394877.1:p.Asn252fs
NP_001394878.1:p.Asn252fs
NP_001394879.1:p.Asn252fs
NP_001394880.1:p.Asn252fs
NP_001394881.1:p.Asn252fs
NP_001394882.1:p.Asn252fs
NP_001394883.1:p.Asn251fs
NP_001394884.1:p.Asn251fs
NP_001394885.1:p.Asn251fs
NP_001394886.1:p.Asn252fs
NP_001394887.1:p.Asn251fs
NP_001394888.1:p.Asn236fs
NP_001394889.1:p.Asn236fs
NP_001394891.1:p.Asn235fs
NP_001394892.1:p.Asn236fs
NP_001394893.1:p.Asn315fs
NP_001394894.1:p.Asn195fs
NP_001394895.1:p.Asn67fs
NP_001394896.1:p.Asn67fs
NP_009225.1:p.Asn363Serfs
NP_009225.1:p.Asn363fs
NP_009228.2:p.Asn316fs
NP_009231.2:p.Asn363fs
LRG_292t1:c.1081_1136del56
LRG_292:g.123539_123594del
LRG_292p1:p.Asn363Serfs
NC_000017.10:g.41246412_41246467del
NM_007294.3:c.1081_1136del56
NM_007294.3:c.1086_1141del56
NM_007294.3:c.1086_1141del56
NM_007294.3:c.1086_1141delGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGA
NR_027676.1:n.1217_1272del56
U14680.1:n.1205_1260del56

Nucleotide change:

1205del56

Protein change:

N195fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 1205&base_change=del 56; dbSNP: rs80359875

NCBI 1000 Genomes Browser:

rs80359875

Molecular consequence:

NM_001407571.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1077_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1077_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1005_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1005_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1005_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1005_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1008_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1083_1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.885_940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.882_937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.882_937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.876_931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.873_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.819_874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.819_874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.819_874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.819_874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.822_877del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.819_874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.963_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.960_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.750_805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.750_805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.750_805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.753_808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.750_805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.705_760del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.705_760del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.702_757del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.705_760del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.942_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.582_637del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.198_253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.198_253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.945_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1086_1141del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+296_790+351del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+299_778+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+299_709+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+299_709+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+299_709+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+299_706+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+299_709+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+299_709+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+299_706+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1401_670+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1401_670+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1401_670+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1401_667+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1401_670+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1401_670+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1401_667+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1401_667+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+299_664+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+299_661+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+299_652+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+299_646+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+299_643+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+299_784+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+299_586+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+299_583+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+299_586+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+299_574+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+299_574+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+299_574+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3413_548-3358del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3413_545-3358del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+299_523+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+299_454+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+299_520+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+299_520+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+299_520+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1401_460+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1401_460+1456del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+299_451+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+299_451+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+299_406+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3413_404-3358del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+299_283+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+299_577+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+299_787+354del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108853	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Oct 6, 2012)	germline	clinical testing
SCV000144003	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000299548	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,
SCV000324951	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,
SCV004216853	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 12, 2023)	unknown	clinical testing	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	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	1	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Latin American, Caribbe	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108853.2

#	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	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
3	Western European, Latin American, Caribbe	2	not provided	not provided	clinical testing	not provided

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299548.2

#	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, SCV000324951.4

#	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	1	not provided

From Baylor Genetics, SCV004216853.1

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

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

Last Updated: Mar 30, 2024

ClinVar

Relating variation to medicine