NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 7, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000570848.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)]

NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)

Other names:

1406insA; 1406_1407insA

HGVS:

NC_000017.11:g.43094244dup
NG_005905.2:g.123740dup
NM_001407571.1:c.1074dup
NM_001407581.1:c.1287dup
NM_001407582.1:c.1287dup
NM_001407583.1:c.1287dup
NM_001407585.1:c.1287dup
NM_001407587.1:c.1284dup
NM_001407590.1:c.1284dup
NM_001407591.1:c.1284dup
NM_001407593.1:c.1287dup
NM_001407594.1:c.1287dup
NM_001407596.1:c.1287dup
NM_001407597.1:c.1287dup
NM_001407598.1:c.1287dup
NM_001407602.1:c.1287dup
NM_001407603.1:c.1287dup
NM_001407605.1:c.1287dup
NM_001407610.1:c.1284dup
NM_001407611.1:c.1284dup
NM_001407612.1:c.1284dup
NM_001407613.1:c.1284dup
NM_001407614.1:c.1284dup
NM_001407615.1:c.1284dup
NM_001407616.1:c.1287dup
NM_001407617.1:c.1287dup
NM_001407618.1:c.1287dup
NM_001407619.1:c.1287dup
NM_001407620.1:c.1287dup
NM_001407621.1:c.1287dup
NM_001407622.1:c.1287dup
NM_001407623.1:c.1287dup
NM_001407624.1:c.1287dup
NM_001407625.1:c.1287dup
NM_001407626.1:c.1287dup
NM_001407627.1:c.1284dup
NM_001407628.1:c.1284dup
NM_001407629.1:c.1284dup
NM_001407630.1:c.1284dup
NM_001407631.1:c.1284dup
NM_001407632.1:c.1284dup
NM_001407633.1:c.1284dup
NM_001407634.1:c.1284dup
NM_001407635.1:c.1284dup
NM_001407636.1:c.1284dup
NM_001407637.1:c.1284dup
NM_001407638.1:c.1284dup
NM_001407639.1:c.1287dup
NM_001407640.1:c.1287dup
NM_001407641.1:c.1287dup
NM_001407642.1:c.1287dup
NM_001407644.1:c.1284dup
NM_001407645.1:c.1284dup
NM_001407646.1:c.1278dup
NM_001407647.1:c.1278dup
NM_001407648.1:c.1164dup
NM_001407649.1:c.1161dup
NM_001407652.1:c.1287dup
NM_001407653.1:c.1209dup
NM_001407654.1:c.1209dup
NM_001407655.1:c.1209dup
NM_001407656.1:c.1209dup
NM_001407657.1:c.1209dup
NM_001407658.1:c.1209dup
NM_001407659.1:c.1206dup
NM_001407660.1:c.1206dup
NM_001407661.1:c.1206dup
NM_001407662.1:c.1206dup
NM_001407663.1:c.1209dup
NM_001407664.1:c.1164dup
NM_001407665.1:c.1164dup
NM_001407666.1:c.1164dup
NM_001407667.1:c.1164dup
NM_001407668.1:c.1164dup
NM_001407669.1:c.1164dup
NM_001407670.1:c.1161dup
NM_001407671.1:c.1161dup
NM_001407672.1:c.1161dup
NM_001407673.1:c.1161dup
NM_001407674.1:c.1164dup
NM_001407675.1:c.1164dup
NM_001407676.1:c.1164dup
NM_001407677.1:c.1164dup
NM_001407678.1:c.1164dup
NM_001407679.1:c.1164dup
NM_001407680.1:c.1164dup
NM_001407681.1:c.1164dup
NM_001407682.1:c.1164dup
NM_001407683.1:c.1164dup
NM_001407684.1:c.1287dup
NM_001407685.1:c.1161dup
NM_001407686.1:c.1161dup
NM_001407687.1:c.1161dup
NM_001407688.1:c.1161dup
NM_001407689.1:c.1161dup
NM_001407690.1:c.1161dup
NM_001407691.1:c.1161dup
NM_001407692.1:c.1146dup
NM_001407694.1:c.1146dup
NM_001407695.1:c.1146dup
NM_001407696.1:c.1146dup
NM_001407697.1:c.1146dup
NM_001407698.1:c.1146dup
NM_001407724.1:c.1146dup
NM_001407725.1:c.1146dup
NM_001407726.1:c.1146dup
NM_001407727.1:c.1146dup
NM_001407728.1:c.1146dup
NM_001407729.1:c.1146dup
NM_001407730.1:c.1146dup
NM_001407731.1:c.1146dup
NM_001407732.1:c.1146dup
NM_001407733.1:c.1146dup
NM_001407734.1:c.1146dup
NM_001407735.1:c.1146dup
NM_001407736.1:c.1146dup
NM_001407737.1:c.1146dup
NM_001407738.1:c.1146dup
NM_001407739.1:c.1146dup
NM_001407740.1:c.1143dup
NM_001407741.1:c.1143dup
NM_001407742.1:c.1143dup
NM_001407743.1:c.1143dup
NM_001407744.1:c.1143dup
NM_001407745.1:c.1143dup
NM_001407746.1:c.1143dup
NM_001407747.1:c.1143dup
NM_001407748.1:c.1143dup
NM_001407749.1:c.1143dup
NM_001407750.1:c.1146dup
NM_001407751.1:c.1146dup
NM_001407752.1:c.1146dup
NM_001407838.1:c.1143dup
NM_001407839.1:c.1143dup
NM_001407841.1:c.1143dup
NM_001407842.1:c.1143dup
NM_001407843.1:c.1143dup
NM_001407844.1:c.1143dup
NM_001407845.1:c.1143dup
NM_001407846.1:c.1143dup
NM_001407847.1:c.1143dup
NM_001407848.1:c.1143dup
NM_001407849.1:c.1143dup
NM_001407850.1:c.1146dup
NM_001407851.1:c.1146dup
NM_001407852.1:c.1146dup
NM_001407853.1:c.1074dup
NM_001407854.1:c.1287dup
NM_001407858.1:c.1287dup
NM_001407859.1:c.1287dup
NM_001407860.1:c.1284dup
NM_001407861.1:c.1284dup
NM_001407862.1:c.1086dup
NM_001407863.1:c.1164dup
NM_001407874.1:c.1083dup
NM_001407875.1:c.1083dup
NM_001407879.1:c.1077dup
NM_001407881.1:c.1077dup
NM_001407882.1:c.1077dup
NM_001407884.1:c.1077dup
NM_001407885.1:c.1077dup
NM_001407886.1:c.1077dup
NM_001407887.1:c.1077dup
NM_001407889.1:c.1077dup
NM_001407894.1:c.1074dup
NM_001407895.1:c.1074dup
NM_001407896.1:c.1074dup
NM_001407897.1:c.1074dup
NM_001407898.1:c.1074dup
NM_001407899.1:c.1074dup
NM_001407900.1:c.1077dup
NM_001407902.1:c.1077dup
NM_001407904.1:c.1077dup
NM_001407906.1:c.1077dup
NM_001407907.1:c.1077dup
NM_001407908.1:c.1077dup
NM_001407909.1:c.1077dup
NM_001407910.1:c.1077dup
NM_001407915.1:c.1074dup
NM_001407916.1:c.1074dup
NM_001407917.1:c.1074dup
NM_001407918.1:c.1074dup
NM_001407919.1:c.1164dup
NM_001407920.1:c.1023dup
NM_001407921.1:c.1023dup
NM_001407922.1:c.1023dup
NM_001407923.1:c.1023dup
NM_001407924.1:c.1023dup
NM_001407925.1:c.1023dup
NM_001407926.1:c.1023dup
NM_001407927.1:c.1023dup
NM_001407928.1:c.1023dup
NM_001407929.1:c.1023dup
NM_001407930.1:c.1020dup
NM_001407931.1:c.1020dup
NM_001407932.1:c.1020dup
NM_001407933.1:c.1023dup
NM_001407934.1:c.1020dup
NM_001407935.1:c.1023dup
NM_001407936.1:c.1020dup
NM_001407937.1:c.1164dup
NM_001407938.1:c.1164dup
NM_001407939.1:c.1164dup
NM_001407940.1:c.1161dup
NM_001407941.1:c.1161dup
NM_001407942.1:c.1146dup
NM_001407943.1:c.1143dup
NM_001407944.1:c.1146dup
NM_001407945.1:c.1146dup
NM_001407946.1:c.954dup
NM_001407947.1:c.954dup
NM_001407948.1:c.954dup
NM_001407949.1:c.954dup
NM_001407950.1:c.954dup
NM_001407951.1:c.954dup
NM_001407952.1:c.954dup
NM_001407953.1:c.954dup
NM_001407954.1:c.951dup
NM_001407955.1:c.951dup
NM_001407956.1:c.951dup
NM_001407957.1:c.954dup
NM_001407958.1:c.951dup
NM_001407959.1:c.906dup
NM_001407960.1:c.906dup
NM_001407962.1:c.903dup
NM_001407963.1:c.906dup
NM_001407964.1:c.1143dup
NM_001407965.1:c.783dup
NM_001407966.1:c.399dup
NM_001407967.1:c.399dup
NM_001407968.1:c.787+500dup
NM_001407969.1:c.787+500dup
NM_001407970.1:c.787+500dup
NM_001407971.1:c.787+500dup
NM_001407972.1:c.784+500dup
NM_001407973.1:c.787+500dup
NM_001407974.1:c.787+500dup
NM_001407975.1:c.787+500dup
NM_001407976.1:c.787+500dup
NM_001407977.1:c.787+500dup
NM_001407978.1:c.787+500dup
NM_001407979.1:c.787+500dup
NM_001407980.1:c.787+500dup
NM_001407981.1:c.787+500dup
NM_001407982.1:c.787+500dup
NM_001407983.1:c.787+500dup
NM_001407984.1:c.784+500dup
NM_001407985.1:c.784+500dup
NM_001407986.1:c.784+500dup
NM_001407990.1:c.787+500dup
NM_001407991.1:c.784+500dup
NM_001407992.1:c.784+500dup
NM_001407993.1:c.787+500dup
NM_001408392.1:c.784+500dup
NM_001408396.1:c.784+500dup
NM_001408397.1:c.784+500dup
NM_001408398.1:c.784+500dup
NM_001408399.1:c.784+500dup
NM_001408400.1:c.784+500dup
NM_001408401.1:c.784+500dup
NM_001408402.1:c.784+500dup
NM_001408403.1:c.787+500dup
NM_001408404.1:c.787+500dup
NM_001408406.1:c.790+497dup
NM_001408407.1:c.784+500dup
NM_001408408.1:c.778+500dup
NM_001408409.1:c.709+500dup
NM_001408410.1:c.646+500dup
NM_001408411.1:c.709+500dup
NM_001408412.1:c.709+500dup
NM_001408413.1:c.706+500dup
NM_001408414.1:c.709+500dup
NM_001408415.1:c.709+500dup
NM_001408416.1:c.706+500dup
NM_001408418.1:c.670+1602dup
NM_001408419.1:c.670+1602dup
NM_001408420.1:c.670+1602dup
NM_001408421.1:c.667+1602dup
NM_001408422.1:c.670+1602dup
NM_001408423.1:c.670+1602dup
NM_001408424.1:c.667+1602dup
NM_001408425.1:c.664+500dup
NM_001408426.1:c.664+500dup
NM_001408427.1:c.664+500dup
NM_001408428.1:c.664+500dup
NM_001408429.1:c.664+500dup
NM_001408430.1:c.664+500dup
NM_001408431.1:c.667+1602dup
NM_001408432.1:c.661+500dup
NM_001408433.1:c.661+500dup
NM_001408434.1:c.661+500dup
NM_001408435.1:c.661+500dup
NM_001408436.1:c.664+500dup
NM_001408437.1:c.664+500dup
NM_001408438.1:c.664+500dup
NM_001408439.1:c.664+500dup
NM_001408440.1:c.664+500dup
NM_001408441.1:c.664+500dup
NM_001408442.1:c.664+500dup
NM_001408443.1:c.664+500dup
NM_001408444.1:c.664+500dup
NM_001408445.1:c.661+500dup
NM_001408446.1:c.661+500dup
NM_001408447.1:c.661+500dup
NM_001408448.1:c.661+500dup
NM_001408450.1:c.661+500dup
NM_001408451.1:c.652+500dup
NM_001408452.1:c.646+500dup
NM_001408453.1:c.646+500dup
NM_001408454.1:c.646+500dup
NM_001408455.1:c.646+500dup
NM_001408456.1:c.646+500dup
NM_001408457.1:c.646+500dup
NM_001408458.1:c.646+500dup
NM_001408459.1:c.646+500dup
NM_001408460.1:c.646+500dup
NM_001408461.1:c.646+500dup
NM_001408462.1:c.643+500dup
NM_001408463.1:c.643+500dup
NM_001408464.1:c.643+500dup
NM_001408465.1:c.643+500dup
NM_001408466.1:c.646+500dup
NM_001408467.1:c.646+500dup
NM_001408468.1:c.643+500dup
NM_001408469.1:c.646+500dup
NM_001408470.1:c.643+500dup
NM_001408472.1:c.787+500dup
NM_001408473.1:c.784+500dup
NM_001408474.1:c.586+500dup
NM_001408475.1:c.583+500dup
NM_001408476.1:c.586+500dup
NM_001408478.1:c.577+500dup
NM_001408479.1:c.577+500dup
NM_001408480.1:c.577+500dup
NM_001408481.1:c.577+500dup
NM_001408482.1:c.577+500dup
NM_001408483.1:c.577+500dup
NM_001408484.1:c.577+500dup
NM_001408485.1:c.577+500dup
NM_001408489.1:c.577+500dup
NM_001408490.1:c.574+500dup
NM_001408491.1:c.574+500dup
NM_001408492.1:c.577+500dup
NM_001408493.1:c.574+500dup
NM_001408494.1:c.548-3212dup
NM_001408495.1:c.545-3212dup
NM_001408496.1:c.523+500dup
NM_001408497.1:c.523+500dup
NM_001408498.1:c.523+500dup
NM_001408499.1:c.523+500dup
NM_001408500.1:c.523+500dup
NM_001408501.1:c.523+500dup
NM_001408502.1:c.454+500dup
NM_001408503.1:c.520+500dup
NM_001408504.1:c.520+500dup
NM_001408505.1:c.520+500dup
NM_001408506.1:c.460+1602dup
NM_001408507.1:c.460+1602dup
NM_001408508.1:c.451+500dup
NM_001408509.1:c.451+500dup
NM_001408510.1:c.406+500dup
NM_001408511.1:c.404-3212dup
NM_001408512.1:c.283+500dup
NM_001408513.1:c.577+500dup
NM_001408514.1:c.577+500dup
NM_007294.4:c.1287dupMANE SELECT
NM_007297.4:c.1146dup
NM_007298.4:c.787+500dup
NM_007299.4:c.787+500dup
NM_007300.4:c.1287dup
NP_001394500.1:p.Asp359fs
NP_001394510.1:p.Asp430fs
NP_001394511.1:p.Asp430fs
NP_001394512.1:p.Asp430fs
NP_001394514.1:p.Asp430fs
NP_001394516.1:p.Asp429fs
NP_001394519.1:p.Asp429fs
NP_001394520.1:p.Asp429fs
NP_001394522.1:p.Asp430fs
NP_001394523.1:p.Asp430fs
NP_001394525.1:p.Asp430fs
NP_001394526.1:p.Asp430fs
NP_001394527.1:p.Asp430fs
NP_001394531.1:p.Asp430fs
NP_001394532.1:p.Asp430fs
NP_001394534.1:p.Asp430fs
NP_001394539.1:p.Asp429fs
NP_001394540.1:p.Asp429fs
NP_001394541.1:p.Asp429fs
NP_001394542.1:p.Asp429fs
NP_001394543.1:p.Asp429fs
NP_001394544.1:p.Asp429fs
NP_001394545.1:p.Asp430fs
NP_001394546.1:p.Asp430fs
NP_001394547.1:p.Asp430fs
NP_001394548.1:p.Asp430fs
NP_001394549.1:p.Asp430fs
NP_001394550.1:p.Asp430fs
NP_001394551.1:p.Asp430fs
NP_001394552.1:p.Asp430fs
NP_001394553.1:p.Asp430fs
NP_001394554.1:p.Asp430fs
NP_001394555.1:p.Asp430fs
NP_001394556.1:p.Asp429fs
NP_001394557.1:p.Asp429fs
NP_001394558.1:p.Asp429fs
NP_001394559.1:p.Asp429fs
NP_001394560.1:p.Asp429fs
NP_001394561.1:p.Asp429fs
NP_001394562.1:p.Asp429fs
NP_001394563.1:p.Asp429fs
NP_001394564.1:p.Asp429fs
NP_001394565.1:p.Asp429fs
NP_001394566.1:p.Asp429fs
NP_001394567.1:p.Asp429fs
NP_001394568.1:p.Asp430fs
NP_001394569.1:p.Asp430fs
NP_001394570.1:p.Asp430fs
NP_001394571.1:p.Asp430fs
NP_001394573.1:p.Asp429fs
NP_001394574.1:p.Asp429fs
NP_001394575.1:p.Asp427fs
NP_001394576.1:p.Asp427fs
NP_001394577.1:p.Asp389fs
NP_001394578.1:p.Asp388fs
NP_001394581.1:p.Asp430fs
NP_001394582.1:p.Asp404fs
NP_001394583.1:p.Asp404fs
NP_001394584.1:p.Asp404fs
NP_001394585.1:p.Asp404fs
NP_001394586.1:p.Asp404fs
NP_001394587.1:p.Asp404fs
NP_001394588.1:p.Asp403fs
NP_001394589.1:p.Asp403fs
NP_001394590.1:p.Asp403fs
NP_001394591.1:p.Asp403fs
NP_001394592.1:p.Asp404fs
NP_001394593.1:p.Asp389fs
NP_001394594.1:p.Asp389fs
NP_001394595.1:p.Asp389fs
NP_001394596.1:p.Asp389fs
NP_001394597.1:p.Asp389fs
NP_001394598.1:p.Asp389fs
NP_001394599.1:p.Asp388fs
NP_001394600.1:p.Asp388fs
NP_001394601.1:p.Asp388fs
NP_001394602.1:p.Asp388fs
NP_001394603.1:p.Asp389fs
NP_001394604.1:p.Asp389fs
NP_001394605.1:p.Asp389fs
NP_001394606.1:p.Asp389fs
NP_001394607.1:p.Asp389fs
NP_001394608.1:p.Asp389fs
NP_001394609.1:p.Asp389fs
NP_001394610.1:p.Asp389fs
NP_001394611.1:p.Asp389fs
NP_001394612.1:p.Asp389fs
NP_001394613.1:p.Asp430fs
NP_001394614.1:p.Asp388fs
NP_001394615.1:p.Asp388fs
NP_001394616.1:p.Asp388fs
NP_001394617.1:p.Asp388fs
NP_001394618.1:p.Asp388fs
NP_001394619.1:p.Asp388fs
NP_001394620.1:p.Asp388fs
NP_001394621.1:p.Asp383fs
NP_001394623.1:p.Asp383fs
NP_001394624.1:p.Asp383fs
NP_001394625.1:p.Asp383fs
NP_001394626.1:p.Asp383fs
NP_001394627.1:p.Asp383fs
NP_001394653.1:p.Asp383fs
NP_001394654.1:p.Asp383fs
NP_001394655.1:p.Asp383fs
NP_001394656.1:p.Asp383fs
NP_001394657.1:p.Asp383fs
NP_001394658.1:p.Asp383fs
NP_001394659.1:p.Asp383fs
NP_001394660.1:p.Asp383fs
NP_001394661.1:p.Asp383fs
NP_001394662.1:p.Asp383fs
NP_001394663.1:p.Asp383fs
NP_001394664.1:p.Asp383fs
NP_001394665.1:p.Asp383fs
NP_001394666.1:p.Asp383fs
NP_001394667.1:p.Asp383fs
NP_001394668.1:p.Asp383fs
NP_001394669.1:p.Asp382fs
NP_001394670.1:p.Asp382fs
NP_001394671.1:p.Asp382fs
NP_001394672.1:p.Asp382fs
NP_001394673.1:p.Asp382fs
NP_001394674.1:p.Asp382fs
NP_001394675.1:p.Asp382fs
NP_001394676.1:p.Asp382fs
NP_001394677.1:p.Asp382fs
NP_001394678.1:p.Asp382fs
NP_001394679.1:p.Asp383fs
NP_001394680.1:p.Asp383fs
NP_001394681.1:p.Asp383fs
NP_001394767.1:p.Asp382fs
NP_001394768.1:p.Asp382fs
NP_001394770.1:p.Asp382fs
NP_001394771.1:p.Asp382fs
NP_001394772.1:p.Asp382fs
NP_001394773.1:p.Asp382fs
NP_001394774.1:p.Asp382fs
NP_001394775.1:p.Asp382fs
NP_001394776.1:p.Asp382fs
NP_001394777.1:p.Asp382fs
NP_001394778.1:p.Asp382fs
NP_001394779.1:p.Asp383fs
NP_001394780.1:p.Asp383fs
NP_001394781.1:p.Asp383fs
NP_001394782.1:p.Asp359fs
NP_001394783.1:p.Asp430fs
NP_001394787.1:p.Asp430fs
NP_001394788.1:p.Asp430fs
NP_001394789.1:p.Asp429fs
NP_001394790.1:p.Asp429fs
NP_001394791.1:p.Asp363fs
NP_001394792.1:p.Asp389fs
NP_001394803.1:p.Asp362fs
NP_001394804.1:p.Asp362fs
NP_001394808.1:p.Asp360fs
NP_001394810.1:p.Asp360fs
NP_001394811.1:p.Asp360fs
NP_001394813.1:p.Asp360fs
NP_001394814.1:p.Asp360fs
NP_001394815.1:p.Asp360fs
NP_001394816.1:p.Asp360fs
NP_001394818.1:p.Asp360fs
NP_001394823.1:p.Asp359fs
NP_001394824.1:p.Asp359fs
NP_001394825.1:p.Asp359fs
NP_001394826.1:p.Asp359fs
NP_001394827.1:p.Asp359fs
NP_001394828.1:p.Asp359fs
NP_001394829.1:p.Asp360fs
NP_001394831.1:p.Asp360fs
NP_001394833.1:p.Asp360fs
NP_001394835.1:p.Asp360fs
NP_001394836.1:p.Asp360fs
NP_001394837.1:p.Asp360fs
NP_001394838.1:p.Asp360fs
NP_001394839.1:p.Asp360fs
NP_001394844.1:p.Asp359fs
NP_001394845.1:p.Asp359fs
NP_001394846.1:p.Asp359fs
NP_001394847.1:p.Asp359fs
NP_001394848.1:p.Asp389fs
NP_001394849.1:p.Asp342fs
NP_001394850.1:p.Asp342fs
NP_001394851.1:p.Asp342fs
NP_001394852.1:p.Asp342fs
NP_001394853.1:p.Asp342fs
NP_001394854.1:p.Asp342fs
NP_001394855.1:p.Asp342fs
NP_001394856.1:p.Asp342fs
NP_001394857.1:p.Asp342fs
NP_001394858.1:p.Asp342fs
NP_001394859.1:p.Asp341fs
NP_001394860.1:p.Asp341fs
NP_001394861.1:p.Asp341fs
NP_001394862.1:p.Asp342fs
NP_001394863.1:p.Asp341fs
NP_001394864.1:p.Asp342fs
NP_001394865.1:p.Asp341fs
NP_001394866.1:p.Asp389fs
NP_001394867.1:p.Asp389fs
NP_001394868.1:p.Asp389fs
NP_001394869.1:p.Asp388fs
NP_001394870.1:p.Asp388fs
NP_001394871.1:p.Asp383fs
NP_001394872.1:p.Asp382fs
NP_001394873.1:p.Asp383fs
NP_001394874.1:p.Asp383fs
NP_001394875.1:p.Asp319fs
NP_001394876.1:p.Asp319fs
NP_001394877.1:p.Asp319fs
NP_001394878.1:p.Asp319fs
NP_001394879.1:p.Asp319fs
NP_001394880.1:p.Asp319fs
NP_001394881.1:p.Asp319fs
NP_001394882.1:p.Asp319fs
NP_001394883.1:p.Asp318fs
NP_001394884.1:p.Asp318fs
NP_001394885.1:p.Asp318fs
NP_001394886.1:p.Asp319fs
NP_001394887.1:p.Asp318fs
NP_001394888.1:p.Asp303fs
NP_001394889.1:p.Asp303fs
NP_001394891.1:p.Asp302fs
NP_001394892.1:p.Asp303fs
NP_001394893.1:p.Asp382fs
NP_001394894.1:p.Asp262fs
NP_001394895.1:p.Asp134fs
NP_001394896.1:p.Asp134fs
NP_009225.1:p.Asp430fs
NP_009228.2:p.Asp383fs
NP_009231.2:p.Asp430fs
LRG_292t1:c.1287dup
LRG_292:g.123740dup
LRG_292p1:p.Asp430Argfs
NC_000017.10:g.41246261dup
NC_000017.10:g.41246261dup
NM_007294.3:c.1287dupA
NM_007294.4:c.1287dup
NR_027676.1:n.1423dup
U14680.1:n.1406_1407insA
p.D430RfsX6

Nucleotide change:

1406INSA

Protein change:

D134fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 1406&base_change=ins A; dbSNP: rs80357576

NCBI 1000 Genomes Browser:

rs80357576

Molecular consequence:

NM_001407571.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1278dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1278dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1206dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1206dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1206dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1206dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1209dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1284dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1086dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1083dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1083dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1074dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1020dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1164dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1161dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.906dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.906dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.903dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.906dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1143dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.783dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+497dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3212dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3212dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1602dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3212dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+500dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000660978	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 7, 2024)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10952774, 14574155, 16528604, 22160602, 9150151 Citation Link,
SCV000911643	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 19, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 9150151, 14574155, 16528604, 16683254, 24249303, 31745186, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000660978

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 7, 2024)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000911643

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 19, 2023)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H, de Bock GH, van Eijk R, Vliet Vlieland TP, Cornelisse CJ, Devilee P, Tollenaar RA.

Br J Cancer. 2000 Sep;83(6):719-24.

PubMed [citation]

PMID:: 10952774
PMCID:: PMC2363536

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.

Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.

PubMed [citation]

PMID:: 22160602
PMCID:: PMC3365232

See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000660978.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The c.1287dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 1287, causing a translational frameshift with a predicted alternate stop codon (p.D430Rfs*6). This mutation has previously been reported in multiple individuals and families affected with breast and/or ovarian cancer, and, specifically, has been reported as a recurrent mutation in the Dutch population (Peelen T et al. Am. J. Hum. Genet. 1997 May;60:1041-9; Schneegans SM et al. Fam. Cancer. 2012 Jun;11:181-8; Sinilnikova OM et al. Fam. Cancer. 2006;5:15-20; Piek JM et al. Fam. Cancer. 2003;2:73-8). This mutation has also been designated as 1406insA in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000911643.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in one individual each affected with breast cancer (PMID: 24249303) and intraperitoneal cancer (PMID: 14574155) and in suspected hereditary breast and ovarian cancer families (PMID: 9150151, 16528604, 16683254, 31745186). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: May 16, 2025

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