NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (2 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:: RCV000112035.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs)]

NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs)

Other names:

3373insA

HGVS:

NC_000017.11:g.43092276dup
NG_005905.2:g.125708dup
NG_087068.1:g.1258dup
NM_001407571.1:c.3042dup
NM_001407581.1:c.3255dup
NM_001407582.1:c.3255dup
NM_001407583.1:c.3255dup
NM_001407585.1:c.3255dup
NM_001407587.1:c.3252dup
NM_001407590.1:c.3252dup
NM_001407591.1:c.3252dup
NM_001407593.1:c.3255dup
NM_001407594.1:c.3255dup
NM_001407596.1:c.3255dup
NM_001407597.1:c.3255dup
NM_001407598.1:c.3255dup
NM_001407602.1:c.3255dup
NM_001407603.1:c.3255dup
NM_001407605.1:c.3255dup
NM_001407610.1:c.3252dup
NM_001407611.1:c.3252dup
NM_001407612.1:c.3252dup
NM_001407613.1:c.3252dup
NM_001407614.1:c.3252dup
NM_001407615.1:c.3252dup
NM_001407616.1:c.3255dup
NM_001407617.1:c.3255dup
NM_001407618.1:c.3255dup
NM_001407619.1:c.3255dup
NM_001407620.1:c.3255dup
NM_001407621.1:c.3255dup
NM_001407622.1:c.3255dup
NM_001407623.1:c.3255dup
NM_001407624.1:c.3255dup
NM_001407625.1:c.3255dup
NM_001407626.1:c.3255dup
NM_001407627.1:c.3252dup
NM_001407628.1:c.3252dup
NM_001407629.1:c.3252dup
NM_001407630.1:c.3252dup
NM_001407631.1:c.3252dup
NM_001407632.1:c.3252dup
NM_001407633.1:c.3252dup
NM_001407634.1:c.3252dup
NM_001407635.1:c.3252dup
NM_001407636.1:c.3252dup
NM_001407637.1:c.3252dup
NM_001407638.1:c.3252dup
NM_001407639.1:c.3255dup
NM_001407640.1:c.3255dup
NM_001407641.1:c.3255dup
NM_001407642.1:c.3255dup
NM_001407644.1:c.3252dup
NM_001407645.1:c.3252dup
NM_001407646.1:c.3246dup
NM_001407647.1:c.3246dup
NM_001407648.1:c.3132dup
NM_001407649.1:c.3129dup
NM_001407652.1:c.3255dup
NM_001407653.1:c.3177dup
NM_001407654.1:c.3177dup
NM_001407655.1:c.3177dup
NM_001407656.1:c.3177dup
NM_001407657.1:c.3177dup
NM_001407658.1:c.3177dup
NM_001407659.1:c.3174dup
NM_001407660.1:c.3174dup
NM_001407661.1:c.3174dup
NM_001407662.1:c.3174dup
NM_001407663.1:c.3177dup
NM_001407664.1:c.3132dup
NM_001407665.1:c.3132dup
NM_001407666.1:c.3132dup
NM_001407667.1:c.3132dup
NM_001407668.1:c.3132dup
NM_001407669.1:c.3132dup
NM_001407670.1:c.3129dup
NM_001407671.1:c.3129dup
NM_001407672.1:c.3129dup
NM_001407673.1:c.3129dup
NM_001407674.1:c.3132dup
NM_001407675.1:c.3132dup
NM_001407676.1:c.3132dup
NM_001407677.1:c.3132dup
NM_001407678.1:c.3132dup
NM_001407679.1:c.3132dup
NM_001407680.1:c.3132dup
NM_001407681.1:c.3132dup
NM_001407682.1:c.3132dup
NM_001407683.1:c.3132dup
NM_001407684.1:c.3255dup
NM_001407685.1:c.3129dup
NM_001407686.1:c.3129dup
NM_001407687.1:c.3129dup
NM_001407688.1:c.3129dup
NM_001407689.1:c.3129dup
NM_001407690.1:c.3129dup
NM_001407691.1:c.3129dup
NM_001407692.1:c.3114dup
NM_001407694.1:c.3114dup
NM_001407695.1:c.3114dup
NM_001407696.1:c.3114dup
NM_001407697.1:c.3114dup
NM_001407698.1:c.3114dup
NM_001407724.1:c.3114dup
NM_001407725.1:c.3114dup
NM_001407726.1:c.3114dup
NM_001407727.1:c.3114dup
NM_001407728.1:c.3114dup
NM_001407729.1:c.3114dup
NM_001407730.1:c.3114dup
NM_001407731.1:c.3114dup
NM_001407732.1:c.3114dup
NM_001407733.1:c.3114dup
NM_001407734.1:c.3114dup
NM_001407735.1:c.3114dup
NM_001407736.1:c.3114dup
NM_001407737.1:c.3114dup
NM_001407738.1:c.3114dup
NM_001407739.1:c.3114dup
NM_001407740.1:c.3111dup
NM_001407741.1:c.3111dup
NM_001407742.1:c.3111dup
NM_001407743.1:c.3111dup
NM_001407744.1:c.3111dup
NM_001407745.1:c.3111dup
NM_001407746.1:c.3111dup
NM_001407747.1:c.3111dup
NM_001407748.1:c.3111dup
NM_001407749.1:c.3111dup
NM_001407750.1:c.3114dup
NM_001407751.1:c.3114dup
NM_001407752.1:c.3114dup
NM_001407838.1:c.3111dup
NM_001407839.1:c.3111dup
NM_001407841.1:c.3111dup
NM_001407842.1:c.3111dup
NM_001407843.1:c.3111dup
NM_001407844.1:c.3111dup
NM_001407845.1:c.3111dup
NM_001407846.1:c.3111dup
NM_001407847.1:c.3111dup
NM_001407848.1:c.3111dup
NM_001407849.1:c.3111dup
NM_001407850.1:c.3114dup
NM_001407851.1:c.3114dup
NM_001407852.1:c.3114dup
NM_001407853.1:c.3042dup
NM_001407854.1:c.3255dup
NM_001407858.1:c.3255dup
NM_001407859.1:c.3255dup
NM_001407860.1:c.3252dup
NM_001407861.1:c.3252dup
NM_001407862.1:c.3054dup
NM_001407863.1:c.3132dup
NM_001407874.1:c.3051dup
NM_001407875.1:c.3051dup
NM_001407879.1:c.3045dup
NM_001407881.1:c.3045dup
NM_001407882.1:c.3045dup
NM_001407884.1:c.3045dup
NM_001407885.1:c.3045dup
NM_001407886.1:c.3045dup
NM_001407887.1:c.3045dup
NM_001407889.1:c.3045dup
NM_001407894.1:c.3042dup
NM_001407895.1:c.3042dup
NM_001407896.1:c.3042dup
NM_001407897.1:c.3042dup
NM_001407898.1:c.3042dup
NM_001407899.1:c.3042dup
NM_001407900.1:c.3045dup
NM_001407902.1:c.3045dup
NM_001407904.1:c.3045dup
NM_001407906.1:c.3045dup
NM_001407907.1:c.3045dup
NM_001407908.1:c.3045dup
NM_001407909.1:c.3045dup
NM_001407910.1:c.3045dup
NM_001407915.1:c.3042dup
NM_001407916.1:c.3042dup
NM_001407917.1:c.3042dup
NM_001407918.1:c.3042dup
NM_001407919.1:c.3132dup
NM_001407920.1:c.2991dup
NM_001407921.1:c.2991dup
NM_001407922.1:c.2991dup
NM_001407923.1:c.2991dup
NM_001407924.1:c.2991dup
NM_001407925.1:c.2991dup
NM_001407926.1:c.2991dup
NM_001407927.1:c.2991dup
NM_001407928.1:c.2991dup
NM_001407929.1:c.2991dup
NM_001407930.1:c.2988dup
NM_001407931.1:c.2988dup
NM_001407932.1:c.2988dup
NM_001407933.1:c.2991dup
NM_001407934.1:c.2988dup
NM_001407935.1:c.2991dup
NM_001407936.1:c.2988dup
NM_001407937.1:c.3132dup
NM_001407938.1:c.3132dup
NM_001407939.1:c.3132dup
NM_001407940.1:c.3129dup
NM_001407941.1:c.3129dup
NM_001407942.1:c.3114dup
NM_001407943.1:c.3111dup
NM_001407944.1:c.3114dup
NM_001407945.1:c.3114dup
NM_001407946.1:c.2922dup
NM_001407947.1:c.2922dup
NM_001407948.1:c.2922dup
NM_001407949.1:c.2922dup
NM_001407950.1:c.2922dup
NM_001407951.1:c.2922dup
NM_001407952.1:c.2922dup
NM_001407953.1:c.2922dup
NM_001407954.1:c.2919dup
NM_001407955.1:c.2919dup
NM_001407956.1:c.2919dup
NM_001407957.1:c.2922dup
NM_001407958.1:c.2919dup
NM_001407959.1:c.2874dup
NM_001407960.1:c.2874dup
NM_001407962.1:c.2871dup
NM_001407963.1:c.2874dup
NM_001407964.1:c.3111dup
NM_001407965.1:c.2751dup
NM_001407966.1:c.2367dup
NM_001407967.1:c.2367dup
NM_001407968.1:c.788-137dup
NM_001407969.1:c.788-137dup
NM_001407970.1:c.788-1244dup
NM_001407971.1:c.788-1244dup
NM_001407972.1:c.785-1244dup
NM_001407973.1:c.788-1244dup
NM_001407974.1:c.788-1244dup
NM_001407975.1:c.788-1244dup
NM_001407976.1:c.788-1244dup
NM_001407977.1:c.788-1244dup
NM_001407978.1:c.788-1244dup
NM_001407979.1:c.788-1244dup
NM_001407980.1:c.788-1244dup
NM_001407981.1:c.788-1244dup
NM_001407982.1:c.788-1244dup
NM_001407983.1:c.788-1244dup
NM_001407984.1:c.785-1244dup
NM_001407985.1:c.785-1244dup
NM_001407986.1:c.785-1244dup
NM_001407990.1:c.788-1244dup
NM_001407991.1:c.785-1244dup
NM_001407992.1:c.785-1244dup
NM_001407993.1:c.788-1244dup
NM_001408392.1:c.785-1244dup
NM_001408396.1:c.785-1244dup
NM_001408397.1:c.785-1244dup
NM_001408398.1:c.785-1244dup
NM_001408399.1:c.785-1244dup
NM_001408400.1:c.785-1244dup
NM_001408401.1:c.785-1244dup
NM_001408402.1:c.785-1244dup
NM_001408403.1:c.788-1244dup
NM_001408404.1:c.788-1244dup
NM_001408406.1:c.791-1253dup
NM_001408407.1:c.785-1244dup
NM_001408408.1:c.779-1244dup
NM_001408409.1:c.710-1244dup
NM_001408410.1:c.647-1244dup
NM_001408411.1:c.710-1244dup
NM_001408412.1:c.710-1244dup
NM_001408413.1:c.707-1244dup
NM_001408414.1:c.710-1244dup
NM_001408415.1:c.710-1244dup
NM_001408416.1:c.707-1244dup
NM_001408418.1:c.671-1244dup
NM_001408419.1:c.671-1244dup
NM_001408420.1:c.671-1244dup
NM_001408421.1:c.668-1244dup
NM_001408422.1:c.671-1244dup
NM_001408423.1:c.671-1244dup
NM_001408424.1:c.668-1244dup
NM_001408425.1:c.665-1244dup
NM_001408426.1:c.665-1244dup
NM_001408427.1:c.665-1244dup
NM_001408428.1:c.665-1244dup
NM_001408429.1:c.665-1244dup
NM_001408430.1:c.665-1244dup
NM_001408431.1:c.668-1244dup
NM_001408432.1:c.662-1244dup
NM_001408433.1:c.662-1244dup
NM_001408434.1:c.662-1244dup
NM_001408435.1:c.662-1244dup
NM_001408436.1:c.665-1244dup
NM_001408437.1:c.665-1244dup
NM_001408438.1:c.665-1244dup
NM_001408439.1:c.665-1244dup
NM_001408440.1:c.665-1244dup
NM_001408441.1:c.665-1244dup
NM_001408442.1:c.665-1244dup
NM_001408443.1:c.665-1244dup
NM_001408444.1:c.665-1244dup
NM_001408445.1:c.662-1244dup
NM_001408446.1:c.662-1244dup
NM_001408447.1:c.662-1244dup
NM_001408448.1:c.662-1244dup
NM_001408450.1:c.662-1244dup
NM_001408451.1:c.653-1244dup
NM_001408452.1:c.647-1244dup
NM_001408453.1:c.647-1244dup
NM_001408454.1:c.647-1244dup
NM_001408455.1:c.647-1244dup
NM_001408456.1:c.647-1244dup
NM_001408457.1:c.647-1244dup
NM_001408458.1:c.647-1244dup
NM_001408459.1:c.647-1244dup
NM_001408460.1:c.647-1244dup
NM_001408461.1:c.647-1244dup
NM_001408462.1:c.644-1244dup
NM_001408463.1:c.644-1244dup
NM_001408464.1:c.644-1244dup
NM_001408465.1:c.644-1244dup
NM_001408466.1:c.647-1244dup
NM_001408467.1:c.647-1244dup
NM_001408468.1:c.644-1244dup
NM_001408469.1:c.647-1244dup
NM_001408470.1:c.644-1244dup
NM_001408472.1:c.788-1244dup
NM_001408473.1:c.785-1244dup
NM_001408474.1:c.587-1244dup
NM_001408475.1:c.584-1244dup
NM_001408476.1:c.587-1244dup
NM_001408478.1:c.578-1244dup
NM_001408479.1:c.578-1244dup
NM_001408480.1:c.578-1244dup
NM_001408481.1:c.578-1244dup
NM_001408482.1:c.578-1244dup
NM_001408483.1:c.578-1244dup
NM_001408484.1:c.578-1244dup
NM_001408485.1:c.578-1244dup
NM_001408489.1:c.578-1244dup
NM_001408490.1:c.575-1244dup
NM_001408491.1:c.575-1244dup
NM_001408492.1:c.578-1244dup
NM_001408493.1:c.575-1244dup
NM_001408494.1:c.548-1244dup
NM_001408495.1:c.545-1244dup
NM_001408496.1:c.524-1244dup
NM_001408497.1:c.524-1244dup
NM_001408498.1:c.524-1244dup
NM_001408499.1:c.524-1244dup
NM_001408500.1:c.524-1244dup
NM_001408501.1:c.524-1244dup
NM_001408502.1:c.455-1244dup
NM_001408503.1:c.521-1244dup
NM_001408504.1:c.521-1244dup
NM_001408505.1:c.521-1244dup
NM_001408506.1:c.461-1244dup
NM_001408507.1:c.461-1244dup
NM_001408508.1:c.452-1244dup
NM_001408509.1:c.452-1244dup
NM_001408510.1:c.407-1244dup
NM_001408511.1:c.404-1244dup
NM_001408512.1:c.284-1244dup
NM_001408513.1:c.578-1244dup
NM_001408514.1:c.578-1244dup
NM_007294.4:c.3255dupMANE SELECT
NM_007297.4:c.3114dup
NM_007298.4:c.788-1244dup
NM_007299.4:c.788-1244dup
NM_007300.4:c.3255dup
NP_001394500.1:p.Leu1015fs
NP_001394510.1:p.Leu1086fs
NP_001394511.1:p.Leu1086fs
NP_001394512.1:p.Leu1086fs
NP_001394514.1:p.Leu1086fs
NP_001394516.1:p.Leu1085fs
NP_001394519.1:p.Leu1085fs
NP_001394520.1:p.Leu1085fs
NP_001394522.1:p.Leu1086fs
NP_001394523.1:p.Leu1086fs
NP_001394525.1:p.Leu1086fs
NP_001394526.1:p.Leu1086fs
NP_001394527.1:p.Leu1086fs
NP_001394531.1:p.Leu1086fs
NP_001394532.1:p.Leu1086fs
NP_001394534.1:p.Leu1086fs
NP_001394539.1:p.Leu1085fs
NP_001394540.1:p.Leu1085fs
NP_001394541.1:p.Leu1085fs
NP_001394542.1:p.Leu1085fs
NP_001394543.1:p.Leu1085fs
NP_001394544.1:p.Leu1085fs
NP_001394545.1:p.Leu1086fs
NP_001394546.1:p.Leu1086fs
NP_001394547.1:p.Leu1086fs
NP_001394548.1:p.Leu1086fs
NP_001394549.1:p.Leu1086fs
NP_001394550.1:p.Leu1086fs
NP_001394551.1:p.Leu1086fs
NP_001394552.1:p.Leu1086fs
NP_001394553.1:p.Leu1086fs
NP_001394554.1:p.Leu1086fs
NP_001394555.1:p.Leu1086fs
NP_001394556.1:p.Leu1085fs
NP_001394557.1:p.Leu1085fs
NP_001394558.1:p.Leu1085fs
NP_001394559.1:p.Leu1085fs
NP_001394560.1:p.Leu1085fs
NP_001394561.1:p.Leu1085fs
NP_001394562.1:p.Leu1085fs
NP_001394563.1:p.Leu1085fs
NP_001394564.1:p.Leu1085fs
NP_001394565.1:p.Leu1085fs
NP_001394566.1:p.Leu1085fs
NP_001394567.1:p.Leu1085fs
NP_001394568.1:p.Leu1086fs
NP_001394569.1:p.Leu1086fs
NP_001394570.1:p.Leu1086fs
NP_001394571.1:p.Leu1086fs
NP_001394573.1:p.Leu1085fs
NP_001394574.1:p.Leu1085fs
NP_001394575.1:p.Leu1083fs
NP_001394576.1:p.Leu1083fs
NP_001394577.1:p.Leu1045fs
NP_001394578.1:p.Leu1044fs
NP_001394581.1:p.Leu1086fs
NP_001394582.1:p.Leu1060fs
NP_001394583.1:p.Leu1060fs
NP_001394584.1:p.Leu1060fs
NP_001394585.1:p.Leu1060fs
NP_001394586.1:p.Leu1060fs
NP_001394587.1:p.Leu1060fs
NP_001394588.1:p.Leu1059fs
NP_001394589.1:p.Leu1059fs
NP_001394590.1:p.Leu1059fs
NP_001394591.1:p.Leu1059fs
NP_001394592.1:p.Leu1060fs
NP_001394593.1:p.Leu1045fs
NP_001394594.1:p.Leu1045fs
NP_001394595.1:p.Leu1045fs
NP_001394596.1:p.Leu1045fs
NP_001394597.1:p.Leu1045fs
NP_001394598.1:p.Leu1045fs
NP_001394599.1:p.Leu1044fs
NP_001394600.1:p.Leu1044fs
NP_001394601.1:p.Leu1044fs
NP_001394602.1:p.Leu1044fs
NP_001394603.1:p.Leu1045fs
NP_001394604.1:p.Leu1045fs
NP_001394605.1:p.Leu1045fs
NP_001394606.1:p.Leu1045fs
NP_001394607.1:p.Leu1045fs
NP_001394608.1:p.Leu1045fs
NP_001394609.1:p.Leu1045fs
NP_001394610.1:p.Leu1045fs
NP_001394611.1:p.Leu1045fs
NP_001394612.1:p.Leu1045fs
NP_001394613.1:p.Leu1086fs
NP_001394614.1:p.Leu1044fs
NP_001394615.1:p.Leu1044fs
NP_001394616.1:p.Leu1044fs
NP_001394617.1:p.Leu1044fs
NP_001394618.1:p.Leu1044fs
NP_001394619.1:p.Leu1044fs
NP_001394620.1:p.Leu1044fs
NP_001394621.1:p.Leu1039fs
NP_001394623.1:p.Leu1039fs
NP_001394624.1:p.Leu1039fs
NP_001394625.1:p.Leu1039fs
NP_001394626.1:p.Leu1039fs
NP_001394627.1:p.Leu1039fs
NP_001394653.1:p.Leu1039fs
NP_001394654.1:p.Leu1039fs
NP_001394655.1:p.Leu1039fs
NP_001394656.1:p.Leu1039fs
NP_001394657.1:p.Leu1039fs
NP_001394658.1:p.Leu1039fs
NP_001394659.1:p.Leu1039fs
NP_001394660.1:p.Leu1039fs
NP_001394661.1:p.Leu1039fs
NP_001394662.1:p.Leu1039fs
NP_001394663.1:p.Leu1039fs
NP_001394664.1:p.Leu1039fs
NP_001394665.1:p.Leu1039fs
NP_001394666.1:p.Leu1039fs
NP_001394667.1:p.Leu1039fs
NP_001394668.1:p.Leu1039fs
NP_001394669.1:p.Leu1038fs
NP_001394670.1:p.Leu1038fs
NP_001394671.1:p.Leu1038fs
NP_001394672.1:p.Leu1038fs
NP_001394673.1:p.Leu1038fs
NP_001394674.1:p.Leu1038fs
NP_001394675.1:p.Leu1038fs
NP_001394676.1:p.Leu1038fs
NP_001394677.1:p.Leu1038fs
NP_001394678.1:p.Leu1038fs
NP_001394679.1:p.Leu1039fs
NP_001394680.1:p.Leu1039fs
NP_001394681.1:p.Leu1039fs
NP_001394767.1:p.Leu1038fs
NP_001394768.1:p.Leu1038fs
NP_001394770.1:p.Leu1038fs
NP_001394771.1:p.Leu1038fs
NP_001394772.1:p.Leu1038fs
NP_001394773.1:p.Leu1038fs
NP_001394774.1:p.Leu1038fs
NP_001394775.1:p.Leu1038fs
NP_001394776.1:p.Leu1038fs
NP_001394777.1:p.Leu1038fs
NP_001394778.1:p.Leu1038fs
NP_001394779.1:p.Leu1039fs
NP_001394780.1:p.Leu1039fs
NP_001394781.1:p.Leu1039fs
NP_001394782.1:p.Leu1015fs
NP_001394783.1:p.Leu1086fs
NP_001394787.1:p.Leu1086fs
NP_001394788.1:p.Leu1086fs
NP_001394789.1:p.Leu1085fs
NP_001394790.1:p.Leu1085fs
NP_001394791.1:p.Leu1019fs
NP_001394792.1:p.Leu1045fs
NP_001394803.1:p.Leu1018fs
NP_001394804.1:p.Leu1018fs
NP_001394808.1:p.Leu1016fs
NP_001394810.1:p.Leu1016fs
NP_001394811.1:p.Leu1016fs
NP_001394813.1:p.Leu1016fs
NP_001394814.1:p.Leu1016fs
NP_001394815.1:p.Leu1016fs
NP_001394816.1:p.Leu1016fs
NP_001394818.1:p.Leu1016fs
NP_001394823.1:p.Leu1015fs
NP_001394824.1:p.Leu1015fs
NP_001394825.1:p.Leu1015fs
NP_001394826.1:p.Leu1015fs
NP_001394827.1:p.Leu1015fs
NP_001394828.1:p.Leu1015fs
NP_001394829.1:p.Leu1016fs
NP_001394831.1:p.Leu1016fs
NP_001394833.1:p.Leu1016fs
NP_001394835.1:p.Leu1016fs
NP_001394836.1:p.Leu1016fs
NP_001394837.1:p.Leu1016fs
NP_001394838.1:p.Leu1016fs
NP_001394839.1:p.Leu1016fs
NP_001394844.1:p.Leu1015fs
NP_001394845.1:p.Leu1015fs
NP_001394846.1:p.Leu1015fs
NP_001394847.1:p.Leu1015fs
NP_001394848.1:p.Leu1045fs
NP_001394849.1:p.Leu998fs
NP_001394850.1:p.Leu998fs
NP_001394851.1:p.Leu998fs
NP_001394852.1:p.Leu998fs
NP_001394853.1:p.Leu998fs
NP_001394854.1:p.Leu998fs
NP_001394855.1:p.Leu998fs
NP_001394856.1:p.Leu998fs
NP_001394857.1:p.Leu998fs
NP_001394858.1:p.Leu998fs
NP_001394859.1:p.Leu997fs
NP_001394860.1:p.Leu997fs
NP_001394861.1:p.Leu997fs
NP_001394862.1:p.Leu998fs
NP_001394863.1:p.Leu997fs
NP_001394864.1:p.Leu998fs
NP_001394865.1:p.Leu997fs
NP_001394866.1:p.Leu1045fs
NP_001394867.1:p.Leu1045fs
NP_001394868.1:p.Leu1045fs
NP_001394869.1:p.Leu1044fs
NP_001394870.1:p.Leu1044fs
NP_001394871.1:p.Leu1039fs
NP_001394872.1:p.Leu1038fs
NP_001394873.1:p.Leu1039fs
NP_001394874.1:p.Leu1039fs
NP_001394875.1:p.Leu975fs
NP_001394876.1:p.Leu975fs
NP_001394877.1:p.Leu975fs
NP_001394878.1:p.Leu975fs
NP_001394879.1:p.Leu975fs
NP_001394880.1:p.Leu975fs
NP_001394881.1:p.Leu975fs
NP_001394882.1:p.Leu975fs
NP_001394883.1:p.Leu974fs
NP_001394884.1:p.Leu974fs
NP_001394885.1:p.Leu974fs
NP_001394886.1:p.Leu975fs
NP_001394887.1:p.Leu974fs
NP_001394888.1:p.Leu959fs
NP_001394889.1:p.Leu959fs
NP_001394891.1:p.Leu958fs
NP_001394892.1:p.Leu959fs
NP_001394893.1:p.Leu1038fs
NP_001394894.1:p.Leu918fs
NP_001394895.1:p.Leu790fs
NP_001394896.1:p.Leu790fs
NP_009225.1:p.Leu1086Ilefs
NP_009225.1:p.Leu1086fs
NP_009228.2:p.Leu1039fs
NP_009231.2:p.Leu1086fs
LRG_292t1:c.3255dup
LRG_292:g.125708dup
LRG_292p1:p.Leu1086Ilefs
NC_000017.10:g.41244293dup
NM_007294.3:c.3255dup
NM_007294.3:c.3255dupA
NR_027676.1:n.3391dup
U14680.1:n.3373_3374insA

Protein change:

L1015fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3373&base_change=ins A; dbSNP: rs1555588090

NCBI 1000 Genomes Browser:

rs1555588090

Molecular consequence:

NM_001407571.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3252dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3054dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3051dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3051dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3042dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3111dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2367dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2367dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-137dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-137dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1253dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1244dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144686	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Jun 22, 1999)	germline	clinical testing
SCV000299900	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144686

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(Jun 22, 1999)

germline

clinical testing

SCV000299900

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144686.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299900.2

#	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

Last Updated: Nov 3, 2024

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