NM_007294.4(BRCA1):c.1088del (p.Asn363fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 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:: RCV000111544.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.1088del (p.Asn363fs)]

NM_007294.4(BRCA1):c.1088del (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.1088del (p.Asn363fs)

Other names:

1207delA

HGVS:

NC_000017.10:g.41246460del
NC_000017.11:g.43094444del
NG_005905.2:g.123541del
NM_001407571.1:c.875del
NM_001407581.1:c.1088del
NM_001407582.1:c.1088del
NM_001407583.1:c.1088del
NM_001407585.1:c.1088del
NM_001407587.1:c.1085del
NM_001407590.1:c.1085del
NM_001407591.1:c.1085del
NM_001407593.1:c.1088del
NM_001407594.1:c.1088del
NM_001407596.1:c.1088del
NM_001407597.1:c.1088del
NM_001407598.1:c.1088del
NM_001407602.1:c.1088del
NM_001407603.1:c.1088del
NM_001407605.1:c.1088del
NM_001407610.1:c.1085del
NM_001407611.1:c.1085del
NM_001407612.1:c.1085del
NM_001407613.1:c.1085del
NM_001407614.1:c.1085del
NM_001407615.1:c.1085del
NM_001407616.1:c.1088del
NM_001407617.1:c.1088del
NM_001407618.1:c.1088del
NM_001407619.1:c.1088del
NM_001407620.1:c.1088del
NM_001407621.1:c.1088del
NM_001407622.1:c.1088del
NM_001407623.1:c.1088del
NM_001407624.1:c.1088del
NM_001407625.1:c.1088del
NM_001407626.1:c.1088del
NM_001407627.1:c.1085del
NM_001407628.1:c.1085del
NM_001407629.1:c.1085del
NM_001407630.1:c.1085del
NM_001407631.1:c.1085del
NM_001407632.1:c.1085del
NM_001407633.1:c.1085del
NM_001407634.1:c.1085del
NM_001407635.1:c.1085del
NM_001407636.1:c.1085del
NM_001407637.1:c.1085del
NM_001407638.1:c.1085del
NM_001407639.1:c.1088del
NM_001407640.1:c.1088del
NM_001407641.1:c.1088del
NM_001407642.1:c.1088del
NM_001407644.1:c.1085del
NM_001407645.1:c.1085del
NM_001407646.1:c.1079del
NM_001407647.1:c.1079del
NM_001407648.1:c.965del
NM_001407649.1:c.962del
NM_001407652.1:c.1088del
NM_001407653.1:c.1010del
NM_001407654.1:c.1010del
NM_001407655.1:c.1010del
NM_001407656.1:c.1010del
NM_001407657.1:c.1010del
NM_001407658.1:c.1010del
NM_001407659.1:c.1007del
NM_001407660.1:c.1007del
NM_001407661.1:c.1007del
NM_001407662.1:c.1007del
NM_001407663.1:c.1010del
NM_001407664.1:c.965del
NM_001407665.1:c.965del
NM_001407666.1:c.965del
NM_001407667.1:c.965del
NM_001407668.1:c.965del
NM_001407669.1:c.965del
NM_001407670.1:c.962del
NM_001407671.1:c.962del
NM_001407672.1:c.962del
NM_001407673.1:c.962del
NM_001407674.1:c.965del
NM_001407675.1:c.965del
NM_001407676.1:c.965del
NM_001407677.1:c.965del
NM_001407678.1:c.965del
NM_001407679.1:c.965del
NM_001407680.1:c.965del
NM_001407681.1:c.965del
NM_001407682.1:c.965del
NM_001407683.1:c.965del
NM_001407684.1:c.1088del
NM_001407685.1:c.962del
NM_001407686.1:c.962del
NM_001407687.1:c.962del
NM_001407688.1:c.962del
NM_001407689.1:c.962del
NM_001407690.1:c.962del
NM_001407691.1:c.962del
NM_001407692.1:c.947del
NM_001407694.1:c.947del
NM_001407695.1:c.947del
NM_001407696.1:c.947del
NM_001407697.1:c.947del
NM_001407698.1:c.947del
NM_001407724.1:c.947del
NM_001407725.1:c.947del
NM_001407726.1:c.947del
NM_001407727.1:c.947del
NM_001407728.1:c.947del
NM_001407729.1:c.947del
NM_001407730.1:c.947del
NM_001407731.1:c.947del
NM_001407732.1:c.947del
NM_001407733.1:c.947del
NM_001407734.1:c.947del
NM_001407735.1:c.947del
NM_001407736.1:c.947del
NM_001407737.1:c.947del
NM_001407738.1:c.947del
NM_001407739.1:c.947del
NM_001407740.1:c.944del
NM_001407741.1:c.944del
NM_001407742.1:c.944del
NM_001407743.1:c.944del
NM_001407744.1:c.944del
NM_001407745.1:c.944del
NM_001407746.1:c.944del
NM_001407747.1:c.944del
NM_001407748.1:c.944del
NM_001407749.1:c.944del
NM_001407750.1:c.947del
NM_001407751.1:c.947del
NM_001407752.1:c.947del
NM_001407838.1:c.944del
NM_001407839.1:c.944del
NM_001407841.1:c.944del
NM_001407842.1:c.944del
NM_001407843.1:c.944del
NM_001407844.1:c.944del
NM_001407845.1:c.944del
NM_001407846.1:c.944del
NM_001407847.1:c.944del
NM_001407848.1:c.944del
NM_001407849.1:c.944del
NM_001407850.1:c.947del
NM_001407851.1:c.947del
NM_001407852.1:c.947del
NM_001407853.1:c.875del
NM_001407854.1:c.1088del
NM_001407858.1:c.1088del
NM_001407859.1:c.1088del
NM_001407860.1:c.1085del
NM_001407861.1:c.1085del
NM_001407862.1:c.887del
NM_001407863.1:c.965del
NM_001407874.1:c.884del
NM_001407875.1:c.884del
NM_001407879.1:c.878del
NM_001407881.1:c.878del
NM_001407882.1:c.878del
NM_001407884.1:c.878del
NM_001407885.1:c.878del
NM_001407886.1:c.878del
NM_001407887.1:c.878del
NM_001407889.1:c.878del
NM_001407894.1:c.875del
NM_001407895.1:c.875del
NM_001407896.1:c.875del
NM_001407897.1:c.875del
NM_001407898.1:c.875del
NM_001407899.1:c.875del
NM_001407900.1:c.878del
NM_001407902.1:c.878del
NM_001407904.1:c.878del
NM_001407906.1:c.878del
NM_001407907.1:c.878del
NM_001407908.1:c.878del
NM_001407909.1:c.878del
NM_001407910.1:c.878del
NM_001407915.1:c.875del
NM_001407916.1:c.875del
NM_001407917.1:c.875del
NM_001407918.1:c.875del
NM_001407919.1:c.965del
NM_001407920.1:c.824del
NM_001407921.1:c.824del
NM_001407922.1:c.824del
NM_001407923.1:c.824del
NM_001407924.1:c.824del
NM_001407925.1:c.824del
NM_001407926.1:c.824del
NM_001407927.1:c.824del
NM_001407928.1:c.824del
NM_001407929.1:c.824del
NM_001407930.1:c.821del
NM_001407931.1:c.821del
NM_001407932.1:c.821del
NM_001407933.1:c.824del
NM_001407934.1:c.821del
NM_001407935.1:c.824del
NM_001407936.1:c.821del
NM_001407937.1:c.965del
NM_001407938.1:c.965del
NM_001407939.1:c.965del
NM_001407940.1:c.962del
NM_001407941.1:c.962del
NM_001407942.1:c.947del
NM_001407943.1:c.944del
NM_001407944.1:c.947del
NM_001407945.1:c.947del
NM_001407946.1:c.755del
NM_001407947.1:c.755del
NM_001407948.1:c.755del
NM_001407949.1:c.755del
NM_001407950.1:c.755del
NM_001407951.1:c.755del
NM_001407952.1:c.755del
NM_001407953.1:c.755del
NM_001407954.1:c.752del
NM_001407955.1:c.752del
NM_001407956.1:c.752del
NM_001407957.1:c.755del
NM_001407958.1:c.752del
NM_001407959.1:c.707del
NM_001407960.1:c.707del
NM_001407962.1:c.704del
NM_001407963.1:c.707del
NM_001407964.1:c.944del
NM_001407965.1:c.584del
NM_001407966.1:c.200del
NM_001407967.1:c.200del
NM_001407968.1:c.787+301del
NM_001407969.1:c.787+301del
NM_001407970.1:c.787+301del
NM_001407971.1:c.787+301del
NM_001407972.1:c.784+301del
NM_001407973.1:c.787+301del
NM_001407974.1:c.787+301del
NM_001407975.1:c.787+301del
NM_001407976.1:c.787+301del
NM_001407977.1:c.787+301del
NM_001407978.1:c.787+301del
NM_001407979.1:c.787+301del
NM_001407980.1:c.787+301del
NM_001407981.1:c.787+301del
NM_001407982.1:c.787+301del
NM_001407983.1:c.787+301del
NM_001407984.1:c.784+301del
NM_001407985.1:c.784+301del
NM_001407986.1:c.784+301del
NM_001407990.1:c.787+301del
NM_001407991.1:c.784+301del
NM_001407992.1:c.784+301del
NM_001407993.1:c.787+301del
NM_001408392.1:c.784+301del
NM_001408396.1:c.784+301del
NM_001408397.1:c.784+301del
NM_001408398.1:c.784+301del
NM_001408399.1:c.784+301del
NM_001408400.1:c.784+301del
NM_001408401.1:c.784+301del
NM_001408402.1:c.784+301del
NM_001408403.1:c.787+301del
NM_001408404.1:c.787+301del
NM_001408406.1:c.790+298del
NM_001408407.1:c.784+301del
NM_001408408.1:c.778+301del
NM_001408409.1:c.709+301del
NM_001408410.1:c.646+301del
NM_001408411.1:c.709+301del
NM_001408412.1:c.709+301del
NM_001408413.1:c.706+301del
NM_001408414.1:c.709+301del
NM_001408415.1:c.709+301del
NM_001408416.1:c.706+301del
NM_001408418.1:c.670+1403del
NM_001408419.1:c.670+1403del
NM_001408420.1:c.670+1403del
NM_001408421.1:c.667+1403del
NM_001408422.1:c.670+1403del
NM_001408423.1:c.670+1403del
NM_001408424.1:c.667+1403del
NM_001408425.1:c.664+301del
NM_001408426.1:c.664+301del
NM_001408427.1:c.664+301del
NM_001408428.1:c.664+301del
NM_001408429.1:c.664+301del
NM_001408430.1:c.664+301del
NM_001408431.1:c.667+1403del
NM_001408432.1:c.661+301del
NM_001408433.1:c.661+301del
NM_001408434.1:c.661+301del
NM_001408435.1:c.661+301del
NM_001408436.1:c.664+301del
NM_001408437.1:c.664+301del
NM_001408438.1:c.664+301del
NM_001408439.1:c.664+301del
NM_001408440.1:c.664+301del
NM_001408441.1:c.664+301del
NM_001408442.1:c.664+301del
NM_001408443.1:c.664+301del
NM_001408444.1:c.664+301del
NM_001408445.1:c.661+301del
NM_001408446.1:c.661+301del
NM_001408447.1:c.661+301del
NM_001408448.1:c.661+301del
NM_001408450.1:c.661+301del
NM_001408451.1:c.652+301del
NM_001408452.1:c.646+301del
NM_001408453.1:c.646+301del
NM_001408454.1:c.646+301del
NM_001408455.1:c.646+301del
NM_001408456.1:c.646+301del
NM_001408457.1:c.646+301del
NM_001408458.1:c.646+301del
NM_001408459.1:c.646+301del
NM_001408460.1:c.646+301del
NM_001408461.1:c.646+301del
NM_001408462.1:c.643+301del
NM_001408463.1:c.643+301del
NM_001408464.1:c.643+301del
NM_001408465.1:c.643+301del
NM_001408466.1:c.646+301del
NM_001408467.1:c.646+301del
NM_001408468.1:c.643+301del
NM_001408469.1:c.646+301del
NM_001408470.1:c.643+301del
NM_001408472.1:c.787+301del
NM_001408473.1:c.784+301del
NM_001408474.1:c.586+301del
NM_001408475.1:c.583+301del
NM_001408476.1:c.586+301del
NM_001408478.1:c.577+301del
NM_001408479.1:c.577+301del
NM_001408480.1:c.577+301del
NM_001408481.1:c.577+301del
NM_001408482.1:c.577+301del
NM_001408483.1:c.577+301del
NM_001408484.1:c.577+301del
NM_001408485.1:c.577+301del
NM_001408489.1:c.577+301del
NM_001408490.1:c.574+301del
NM_001408491.1:c.574+301del
NM_001408492.1:c.577+301del
NM_001408493.1:c.574+301del
NM_001408494.1:c.548-3411del
NM_001408495.1:c.545-3411del
NM_001408496.1:c.523+301del
NM_001408497.1:c.523+301del
NM_001408498.1:c.523+301del
NM_001408499.1:c.523+301del
NM_001408500.1:c.523+301del
NM_001408501.1:c.523+301del
NM_001408502.1:c.454+301del
NM_001408503.1:c.520+301del
NM_001408504.1:c.520+301del
NM_001408505.1:c.520+301del
NM_001408506.1:c.460+1403del
NM_001408507.1:c.460+1403del
NM_001408508.1:c.451+301del
NM_001408509.1:c.451+301del
NM_001408510.1:c.406+301del
NM_001408511.1:c.404-3411del
NM_001408512.1:c.283+301del
NM_001408513.1:c.577+301del
NM_001408514.1:c.577+301del
NM_007294.4:c.1088delMANE SELECT
NM_007297.4:c.947del
NM_007298.4:c.787+301del
NM_007299.4:c.787+301del
NM_007300.4:c.1088del
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.Asn363Ilefs
NP_009225.1:p.Asn363fs
NP_009228.2:p.Asn316fs
NP_009231.2:p.Asn363fs
LRG_292t1:c.1087del
LRG_292:g.123541del
LRG_292p1:p.Asn363Ilefs
NC_000017.10:g.41246460del
NC_000017.10:g.41246460delT
NC_000017.10:g.41246461del
NM_007294.3:c.1087delA
NM_007294.3:c.1088delA
NR_027676.1:n.1223delA
U14680.1:n.1207delA

Protein change:

N195fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 1207&base_change=del A; dbSNP: rs80357954

NCBI 1000 Genomes Browser:

rs80357954

Molecular consequence:

NM_001407571.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1010del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.887del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.884del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.884del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.752del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.752del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.752del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.752del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.707del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.707del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.707del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.584del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.200del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.200del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+298del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3411del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3411del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1403del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3411del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+301del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+301del - 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
SCV000144004	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000299535	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,
SCV000324952	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,
SCV000786283	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Apr 5, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27167672, 8968102, 27062684 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	31	not provided	not provided	not provided	clinical testing, curation
Caucasian	germline	yes	7	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

Citations

PubMed

Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.

Carnevali IW, Cimetti L, Sahnane N, Libera L, Cavallero A, Formenti G, Riva C, Tibiletti MG.

Int J Gynecol Pathol. 2017 Jan;36(1):64-70. doi: 10.1097/PGP.0000000000000290.

PubMed [citation]

PMID:: 27167672

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

Montagna M, Santacatterina M, Corneo B, Menin C, Serova O, Lenoir GM, Chieco-Bianchi L, D'Andrea E.

Cancer Res. 1996 Dec 1;56(23):5466-9.

PubMed [citation]

PMID:: 8968102

See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144004.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	Caucasian	7	not provided	not provided	clinical testing	not provided
3	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299535.2

#	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, SCV000324952.4

#	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	31	not provided

From Counsyl, SCV000786283.2

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

#	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: Apr 20, 2024

ClinVar

Relating variation to medicine