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NM_007294.4(BRCA1):c.3226del (p.Arg1076fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (3 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:
RCV000112032.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.3226del (p.Arg1076fs)]

NM_007294.4(BRCA1):c.3226del (p.Arg1076fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3226del (p.Arg1076fs)
Other names:
3345delA
HGVS:
  • NC_000017.11:g.43092305del
  • NG_005905.2:g.125679del
  • NG_087068.1:g.1287del
  • NM_001407571.1:c.3013del
  • NM_001407581.1:c.3226del
  • NM_001407582.1:c.3226del
  • NM_001407583.1:c.3226del
  • NM_001407585.1:c.3226del
  • NM_001407587.1:c.3223del
  • NM_001407590.1:c.3223del
  • NM_001407591.1:c.3223del
  • NM_001407593.1:c.3226del
  • NM_001407594.1:c.3226del
  • NM_001407596.1:c.3226del
  • NM_001407597.1:c.3226del
  • NM_001407598.1:c.3226del
  • NM_001407602.1:c.3226del
  • NM_001407603.1:c.3226del
  • NM_001407605.1:c.3226del
  • NM_001407610.1:c.3223del
  • NM_001407611.1:c.3223del
  • NM_001407612.1:c.3223del
  • NM_001407613.1:c.3223del
  • NM_001407614.1:c.3223del
  • NM_001407615.1:c.3223del
  • NM_001407616.1:c.3226del
  • NM_001407617.1:c.3226del
  • NM_001407618.1:c.3226del
  • NM_001407619.1:c.3226del
  • NM_001407620.1:c.3226del
  • NM_001407621.1:c.3226del
  • NM_001407622.1:c.3226del
  • NM_001407623.1:c.3226del
  • NM_001407624.1:c.3226del
  • NM_001407625.1:c.3226del
  • NM_001407626.1:c.3226del
  • NM_001407627.1:c.3223del
  • NM_001407628.1:c.3223del
  • NM_001407629.1:c.3223del
  • NM_001407630.1:c.3223del
  • NM_001407631.1:c.3223del
  • NM_001407632.1:c.3223del
  • NM_001407633.1:c.3223del
  • NM_001407634.1:c.3223del
  • NM_001407635.1:c.3223del
  • NM_001407636.1:c.3223del
  • NM_001407637.1:c.3223del
  • NM_001407638.1:c.3223del
  • NM_001407639.1:c.3226del
  • NM_001407640.1:c.3226del
  • NM_001407641.1:c.3226del
  • NM_001407642.1:c.3226del
  • NM_001407644.1:c.3223del
  • NM_001407645.1:c.3223del
  • NM_001407646.1:c.3217del
  • NM_001407647.1:c.3217del
  • NM_001407648.1:c.3103del
  • NM_001407649.1:c.3100del
  • NM_001407652.1:c.3226del
  • NM_001407653.1:c.3148del
  • NM_001407654.1:c.3148del
  • NM_001407655.1:c.3148del
  • NM_001407656.1:c.3148del
  • NM_001407657.1:c.3148del
  • NM_001407658.1:c.3148del
  • NM_001407659.1:c.3145del
  • NM_001407660.1:c.3145del
  • NM_001407661.1:c.3145del
  • NM_001407662.1:c.3145del
  • NM_001407663.1:c.3148del
  • NM_001407664.1:c.3103del
  • NM_001407665.1:c.3103del
  • NM_001407666.1:c.3103del
  • NM_001407667.1:c.3103del
  • NM_001407668.1:c.3103del
  • NM_001407669.1:c.3103del
  • NM_001407670.1:c.3100del
  • NM_001407671.1:c.3100del
  • NM_001407672.1:c.3100del
  • NM_001407673.1:c.3100del
  • NM_001407674.1:c.3103del
  • NM_001407675.1:c.3103del
  • NM_001407676.1:c.3103del
  • NM_001407677.1:c.3103del
  • NM_001407678.1:c.3103del
  • NM_001407679.1:c.3103del
  • NM_001407680.1:c.3103del
  • NM_001407681.1:c.3103del
  • NM_001407682.1:c.3103del
  • NM_001407683.1:c.3103del
  • NM_001407684.1:c.3226del
  • NM_001407685.1:c.3100del
  • NM_001407686.1:c.3100del
  • NM_001407687.1:c.3100del
  • NM_001407688.1:c.3100del
  • NM_001407689.1:c.3100del
  • NM_001407690.1:c.3100del
  • NM_001407691.1:c.3100del
  • NM_001407692.1:c.3085del
  • NM_001407694.1:c.3085del
  • NM_001407695.1:c.3085del
  • NM_001407696.1:c.3085del
  • NM_001407697.1:c.3085del
  • NM_001407698.1:c.3085del
  • NM_001407724.1:c.3085del
  • NM_001407725.1:c.3085del
  • NM_001407726.1:c.3085del
  • NM_001407727.1:c.3085del
  • NM_001407728.1:c.3085del
  • NM_001407729.1:c.3085del
  • NM_001407730.1:c.3085del
  • NM_001407731.1:c.3085del
  • NM_001407732.1:c.3085del
  • NM_001407733.1:c.3085del
  • NM_001407734.1:c.3085del
  • NM_001407735.1:c.3085del
  • NM_001407736.1:c.3085del
  • NM_001407737.1:c.3085del
  • NM_001407738.1:c.3085del
  • NM_001407739.1:c.3085del
  • NM_001407740.1:c.3082del
  • NM_001407741.1:c.3082del
  • NM_001407742.1:c.3082del
  • NM_001407743.1:c.3082del
  • NM_001407744.1:c.3082del
  • NM_001407745.1:c.3082del
  • NM_001407746.1:c.3082del
  • NM_001407747.1:c.3082del
  • NM_001407748.1:c.3082del
  • NM_001407749.1:c.3082del
  • NM_001407750.1:c.3085del
  • NM_001407751.1:c.3085del
  • NM_001407752.1:c.3085del
  • NM_001407838.1:c.3082del
  • NM_001407839.1:c.3082del
  • NM_001407841.1:c.3082del
  • NM_001407842.1:c.3082del
  • NM_001407843.1:c.3082del
  • NM_001407844.1:c.3082del
  • NM_001407845.1:c.3082del
  • NM_001407846.1:c.3082del
  • NM_001407847.1:c.3082del
  • NM_001407848.1:c.3082del
  • NM_001407849.1:c.3082del
  • NM_001407850.1:c.3085del
  • NM_001407851.1:c.3085del
  • NM_001407852.1:c.3085del
  • NM_001407853.1:c.3013del
  • NM_001407854.1:c.3226del
  • NM_001407858.1:c.3226del
  • NM_001407859.1:c.3226del
  • NM_001407860.1:c.3223del
  • NM_001407861.1:c.3223del
  • NM_001407862.1:c.3025del
  • NM_001407863.1:c.3103del
  • NM_001407874.1:c.3022del
  • NM_001407875.1:c.3022del
  • NM_001407879.1:c.3016del
  • NM_001407881.1:c.3016del
  • NM_001407882.1:c.3016del
  • NM_001407884.1:c.3016del
  • NM_001407885.1:c.3016del
  • NM_001407886.1:c.3016del
  • NM_001407887.1:c.3016del
  • NM_001407889.1:c.3016del
  • NM_001407894.1:c.3013del
  • NM_001407895.1:c.3013del
  • NM_001407896.1:c.3013del
  • NM_001407897.1:c.3013del
  • NM_001407898.1:c.3013del
  • NM_001407899.1:c.3013del
  • NM_001407900.1:c.3016del
  • NM_001407902.1:c.3016del
  • NM_001407904.1:c.3016del
  • NM_001407906.1:c.3016del
  • NM_001407907.1:c.3016del
  • NM_001407908.1:c.3016del
  • NM_001407909.1:c.3016del
  • NM_001407910.1:c.3016del
  • NM_001407915.1:c.3013del
  • NM_001407916.1:c.3013del
  • NM_001407917.1:c.3013del
  • NM_001407918.1:c.3013del
  • NM_001407919.1:c.3103del
  • NM_001407920.1:c.2962del
  • NM_001407921.1:c.2962del
  • NM_001407922.1:c.2962del
  • NM_001407923.1:c.2962del
  • NM_001407924.1:c.2962del
  • NM_001407925.1:c.2962del
  • NM_001407926.1:c.2962del
  • NM_001407927.1:c.2962del
  • NM_001407928.1:c.2962del
  • NM_001407929.1:c.2962del
  • NM_001407930.1:c.2959del
  • NM_001407931.1:c.2959del
  • NM_001407932.1:c.2959del
  • NM_001407933.1:c.2962del
  • NM_001407934.1:c.2959del
  • NM_001407935.1:c.2962del
  • NM_001407936.1:c.2959del
  • NM_001407937.1:c.3103del
  • NM_001407938.1:c.3103del
  • NM_001407939.1:c.3103del
  • NM_001407940.1:c.3100del
  • NM_001407941.1:c.3100del
  • NM_001407942.1:c.3085del
  • NM_001407943.1:c.3082del
  • NM_001407944.1:c.3085del
  • NM_001407945.1:c.3085del
  • NM_001407946.1:c.2893del
  • NM_001407947.1:c.2893del
  • NM_001407948.1:c.2893del
  • NM_001407949.1:c.2893del
  • NM_001407950.1:c.2893del
  • NM_001407951.1:c.2893del
  • NM_001407952.1:c.2893del
  • NM_001407953.1:c.2893del
  • NM_001407954.1:c.2890del
  • NM_001407955.1:c.2890del
  • NM_001407956.1:c.2890del
  • NM_001407957.1:c.2893del
  • NM_001407958.1:c.2890del
  • NM_001407959.1:c.2845del
  • NM_001407960.1:c.2845del
  • NM_001407962.1:c.2842del
  • NM_001407963.1:c.2845del
  • NM_001407964.1:c.3082del
  • NM_001407965.1:c.2722del
  • NM_001407966.1:c.2338del
  • NM_001407967.1:c.2338del
  • NM_001407968.1:c.788-166del
  • NM_001407969.1:c.788-166del
  • NM_001407970.1:c.788-1273del
  • NM_001407971.1:c.788-1273del
  • NM_001407972.1:c.785-1273del
  • NM_001407973.1:c.788-1273del
  • NM_001407974.1:c.788-1273del
  • NM_001407975.1:c.788-1273del
  • NM_001407976.1:c.788-1273del
  • NM_001407977.1:c.788-1273del
  • NM_001407978.1:c.788-1273del
  • NM_001407979.1:c.788-1273del
  • NM_001407980.1:c.788-1273del
  • NM_001407981.1:c.788-1273del
  • NM_001407982.1:c.788-1273del
  • NM_001407983.1:c.788-1273del
  • NM_001407984.1:c.785-1273del
  • NM_001407985.1:c.785-1273del
  • NM_001407986.1:c.785-1273del
  • NM_001407990.1:c.788-1273del
  • NM_001407991.1:c.785-1273del
  • NM_001407992.1:c.785-1273del
  • NM_001407993.1:c.788-1273del
  • NM_001408392.1:c.785-1273del
  • NM_001408396.1:c.785-1273del
  • NM_001408397.1:c.785-1273del
  • NM_001408398.1:c.785-1273del
  • NM_001408399.1:c.785-1273del
  • NM_001408400.1:c.785-1273del
  • NM_001408401.1:c.785-1273del
  • NM_001408402.1:c.785-1273del
  • NM_001408403.1:c.788-1273del
  • NM_001408404.1:c.788-1273del
  • NM_001408406.1:c.791-1282del
  • NM_001408407.1:c.785-1273del
  • NM_001408408.1:c.779-1273del
  • NM_001408409.1:c.710-1273del
  • NM_001408410.1:c.647-1273del
  • NM_001408411.1:c.710-1273del
  • NM_001408412.1:c.710-1273del
  • NM_001408413.1:c.707-1273del
  • NM_001408414.1:c.710-1273del
  • NM_001408415.1:c.710-1273del
  • NM_001408416.1:c.707-1273del
  • NM_001408418.1:c.671-1273del
  • NM_001408419.1:c.671-1273del
  • NM_001408420.1:c.671-1273del
  • NM_001408421.1:c.668-1273del
  • NM_001408422.1:c.671-1273del
  • NM_001408423.1:c.671-1273del
  • NM_001408424.1:c.668-1273del
  • NM_001408425.1:c.665-1273del
  • NM_001408426.1:c.665-1273del
  • NM_001408427.1:c.665-1273del
  • NM_001408428.1:c.665-1273del
  • NM_001408429.1:c.665-1273del
  • NM_001408430.1:c.665-1273del
  • NM_001408431.1:c.668-1273del
  • NM_001408432.1:c.662-1273del
  • NM_001408433.1:c.662-1273del
  • NM_001408434.1:c.662-1273del
  • NM_001408435.1:c.662-1273del
  • NM_001408436.1:c.665-1273del
  • NM_001408437.1:c.665-1273del
  • NM_001408438.1:c.665-1273del
  • NM_001408439.1:c.665-1273del
  • NM_001408440.1:c.665-1273del
  • NM_001408441.1:c.665-1273del
  • NM_001408442.1:c.665-1273del
  • NM_001408443.1:c.665-1273del
  • NM_001408444.1:c.665-1273del
  • NM_001408445.1:c.662-1273del
  • NM_001408446.1:c.662-1273del
  • NM_001408447.1:c.662-1273del
  • NM_001408448.1:c.662-1273del
  • NM_001408450.1:c.662-1273del
  • NM_001408451.1:c.653-1273del
  • NM_001408452.1:c.647-1273del
  • NM_001408453.1:c.647-1273del
  • NM_001408454.1:c.647-1273del
  • NM_001408455.1:c.647-1273del
  • NM_001408456.1:c.647-1273del
  • NM_001408457.1:c.647-1273del
  • NM_001408458.1:c.647-1273del
  • NM_001408459.1:c.647-1273del
  • NM_001408460.1:c.647-1273del
  • NM_001408461.1:c.647-1273del
  • NM_001408462.1:c.644-1273del
  • NM_001408463.1:c.644-1273del
  • NM_001408464.1:c.644-1273del
  • NM_001408465.1:c.644-1273del
  • NM_001408466.1:c.647-1273del
  • NM_001408467.1:c.647-1273del
  • NM_001408468.1:c.644-1273del
  • NM_001408469.1:c.647-1273del
  • NM_001408470.1:c.644-1273del
  • NM_001408472.1:c.788-1273del
  • NM_001408473.1:c.785-1273del
  • NM_001408474.1:c.587-1273del
  • NM_001408475.1:c.584-1273del
  • NM_001408476.1:c.587-1273del
  • NM_001408478.1:c.578-1273del
  • NM_001408479.1:c.578-1273del
  • NM_001408480.1:c.578-1273del
  • NM_001408481.1:c.578-1273del
  • NM_001408482.1:c.578-1273del
  • NM_001408483.1:c.578-1273del
  • NM_001408484.1:c.578-1273del
  • NM_001408485.1:c.578-1273del
  • NM_001408489.1:c.578-1273del
  • NM_001408490.1:c.575-1273del
  • NM_001408491.1:c.575-1273del
  • NM_001408492.1:c.578-1273del
  • NM_001408493.1:c.575-1273del
  • NM_001408494.1:c.548-1273del
  • NM_001408495.1:c.545-1273del
  • NM_001408496.1:c.524-1273del
  • NM_001408497.1:c.524-1273del
  • NM_001408498.1:c.524-1273del
  • NM_001408499.1:c.524-1273del
  • NM_001408500.1:c.524-1273del
  • NM_001408501.1:c.524-1273del
  • NM_001408502.1:c.455-1273del
  • NM_001408503.1:c.521-1273del
  • NM_001408504.1:c.521-1273del
  • NM_001408505.1:c.521-1273del
  • NM_001408506.1:c.461-1273del
  • NM_001408507.1:c.461-1273del
  • NM_001408508.1:c.452-1273del
  • NM_001408509.1:c.452-1273del
  • NM_001408510.1:c.407-1273del
  • NM_001408511.1:c.404-1273del
  • NM_001408512.1:c.284-1273del
  • NM_001408513.1:c.578-1273del
  • NM_001408514.1:c.578-1273del
  • NM_007294.4:c.3226delMANE SELECT
  • NM_007297.4:c.3085del
  • NM_007298.4:c.788-1273del
  • NM_007299.4:c.788-1273del
  • NM_007300.4:c.3226del
  • NP_001394500.1:p.Arg1005fs
  • NP_001394510.1:p.Arg1076fs
  • NP_001394511.1:p.Arg1076fs
  • NP_001394512.1:p.Arg1076fs
  • NP_001394514.1:p.Arg1076fs
  • NP_001394516.1:p.Arg1075fs
  • NP_001394519.1:p.Arg1075fs
  • NP_001394520.1:p.Arg1075fs
  • NP_001394522.1:p.Arg1076fs
  • NP_001394523.1:p.Arg1076fs
  • NP_001394525.1:p.Arg1076fs
  • NP_001394526.1:p.Arg1076fs
  • NP_001394527.1:p.Arg1076fs
  • NP_001394531.1:p.Arg1076fs
  • NP_001394532.1:p.Arg1076fs
  • NP_001394534.1:p.Arg1076fs
  • NP_001394539.1:p.Arg1075fs
  • NP_001394540.1:p.Arg1075fs
  • NP_001394541.1:p.Arg1075fs
  • NP_001394542.1:p.Arg1075fs
  • NP_001394543.1:p.Arg1075fs
  • NP_001394544.1:p.Arg1075fs
  • NP_001394545.1:p.Arg1076fs
  • NP_001394546.1:p.Arg1076fs
  • NP_001394547.1:p.Arg1076fs
  • NP_001394548.1:p.Arg1076fs
  • NP_001394549.1:p.Arg1076fs
  • NP_001394550.1:p.Arg1076fs
  • NP_001394551.1:p.Arg1076fs
  • NP_001394552.1:p.Arg1076fs
  • NP_001394553.1:p.Arg1076fs
  • NP_001394554.1:p.Arg1076fs
  • NP_001394555.1:p.Arg1076fs
  • NP_001394556.1:p.Arg1075fs
  • NP_001394557.1:p.Arg1075fs
  • NP_001394558.1:p.Arg1075fs
  • NP_001394559.1:p.Arg1075fs
  • NP_001394560.1:p.Arg1075fs
  • NP_001394561.1:p.Arg1075fs
  • NP_001394562.1:p.Arg1075fs
  • NP_001394563.1:p.Arg1075fs
  • NP_001394564.1:p.Arg1075fs
  • NP_001394565.1:p.Arg1075fs
  • NP_001394566.1:p.Arg1075fs
  • NP_001394567.1:p.Arg1075fs
  • NP_001394568.1:p.Arg1076fs
  • NP_001394569.1:p.Arg1076fs
  • NP_001394570.1:p.Arg1076fs
  • NP_001394571.1:p.Arg1076fs
  • NP_001394573.1:p.Arg1075fs
  • NP_001394574.1:p.Arg1075fs
  • NP_001394575.1:p.Arg1073fs
  • NP_001394576.1:p.Arg1073fs
  • NP_001394577.1:p.Arg1035fs
  • NP_001394578.1:p.Arg1034fs
  • NP_001394581.1:p.Arg1076fs
  • NP_001394582.1:p.Arg1050fs
  • NP_001394583.1:p.Arg1050fs
  • NP_001394584.1:p.Arg1050fs
  • NP_001394585.1:p.Arg1050fs
  • NP_001394586.1:p.Arg1050fs
  • NP_001394587.1:p.Arg1050fs
  • NP_001394588.1:p.Arg1049fs
  • NP_001394589.1:p.Arg1049fs
  • NP_001394590.1:p.Arg1049fs
  • NP_001394591.1:p.Arg1049fs
  • NP_001394592.1:p.Arg1050fs
  • NP_001394593.1:p.Arg1035fs
  • NP_001394594.1:p.Arg1035fs
  • NP_001394595.1:p.Arg1035fs
  • NP_001394596.1:p.Arg1035fs
  • NP_001394597.1:p.Arg1035fs
  • NP_001394598.1:p.Arg1035fs
  • NP_001394599.1:p.Arg1034fs
  • NP_001394600.1:p.Arg1034fs
  • NP_001394601.1:p.Arg1034fs
  • NP_001394602.1:p.Arg1034fs
  • NP_001394603.1:p.Arg1035fs
  • NP_001394604.1:p.Arg1035fs
  • NP_001394605.1:p.Arg1035fs
  • NP_001394606.1:p.Arg1035fs
  • NP_001394607.1:p.Arg1035fs
  • NP_001394608.1:p.Arg1035fs
  • NP_001394609.1:p.Arg1035fs
  • NP_001394610.1:p.Arg1035fs
  • NP_001394611.1:p.Arg1035fs
  • NP_001394612.1:p.Arg1035fs
  • NP_001394613.1:p.Arg1076fs
  • NP_001394614.1:p.Arg1034fs
  • NP_001394615.1:p.Arg1034fs
  • NP_001394616.1:p.Arg1034fs
  • NP_001394617.1:p.Arg1034fs
  • NP_001394618.1:p.Arg1034fs
  • NP_001394619.1:p.Arg1034fs
  • NP_001394620.1:p.Arg1034fs
  • NP_001394621.1:p.Arg1029fs
  • NP_001394623.1:p.Arg1029fs
  • NP_001394624.1:p.Arg1029fs
  • NP_001394625.1:p.Arg1029fs
  • NP_001394626.1:p.Arg1029fs
  • NP_001394627.1:p.Arg1029fs
  • NP_001394653.1:p.Arg1029fs
  • NP_001394654.1:p.Arg1029fs
  • NP_001394655.1:p.Arg1029fs
  • NP_001394656.1:p.Arg1029fs
  • NP_001394657.1:p.Arg1029fs
  • NP_001394658.1:p.Arg1029fs
  • NP_001394659.1:p.Arg1029fs
  • NP_001394660.1:p.Arg1029fs
  • NP_001394661.1:p.Arg1029fs
  • NP_001394662.1:p.Arg1029fs
  • NP_001394663.1:p.Arg1029fs
  • NP_001394664.1:p.Arg1029fs
  • NP_001394665.1:p.Arg1029fs
  • NP_001394666.1:p.Arg1029fs
  • NP_001394667.1:p.Arg1029fs
  • NP_001394668.1:p.Arg1029fs
  • NP_001394669.1:p.Arg1028fs
  • NP_001394670.1:p.Arg1028fs
  • NP_001394671.1:p.Arg1028fs
  • NP_001394672.1:p.Arg1028fs
  • NP_001394673.1:p.Arg1028fs
  • NP_001394674.1:p.Arg1028fs
  • NP_001394675.1:p.Arg1028fs
  • NP_001394676.1:p.Arg1028fs
  • NP_001394677.1:p.Arg1028fs
  • NP_001394678.1:p.Arg1028fs
  • NP_001394679.1:p.Arg1029fs
  • NP_001394680.1:p.Arg1029fs
  • NP_001394681.1:p.Arg1029fs
  • NP_001394767.1:p.Arg1028fs
  • NP_001394768.1:p.Arg1028fs
  • NP_001394770.1:p.Arg1028fs
  • NP_001394771.1:p.Arg1028fs
  • NP_001394772.1:p.Arg1028fs
  • NP_001394773.1:p.Arg1028fs
  • NP_001394774.1:p.Arg1028fs
  • NP_001394775.1:p.Arg1028fs
  • NP_001394776.1:p.Arg1028fs
  • NP_001394777.1:p.Arg1028fs
  • NP_001394778.1:p.Arg1028fs
  • NP_001394779.1:p.Arg1029fs
  • NP_001394780.1:p.Arg1029fs
  • NP_001394781.1:p.Arg1029fs
  • NP_001394782.1:p.Arg1005fs
  • NP_001394783.1:p.Arg1076fs
  • NP_001394787.1:p.Arg1076fs
  • NP_001394788.1:p.Arg1076fs
  • NP_001394789.1:p.Arg1075fs
  • NP_001394790.1:p.Arg1075fs
  • NP_001394791.1:p.Arg1009fs
  • NP_001394792.1:p.Arg1035fs
  • NP_001394803.1:p.Arg1008fs
  • NP_001394804.1:p.Arg1008fs
  • NP_001394808.1:p.Arg1006fs
  • NP_001394810.1:p.Arg1006fs
  • NP_001394811.1:p.Arg1006fs
  • NP_001394813.1:p.Arg1006fs
  • NP_001394814.1:p.Arg1006fs
  • NP_001394815.1:p.Arg1006fs
  • NP_001394816.1:p.Arg1006fs
  • NP_001394818.1:p.Arg1006fs
  • NP_001394823.1:p.Arg1005fs
  • NP_001394824.1:p.Arg1005fs
  • NP_001394825.1:p.Arg1005fs
  • NP_001394826.1:p.Arg1005fs
  • NP_001394827.1:p.Arg1005fs
  • NP_001394828.1:p.Arg1005fs
  • NP_001394829.1:p.Arg1006fs
  • NP_001394831.1:p.Arg1006fs
  • NP_001394833.1:p.Arg1006fs
  • NP_001394835.1:p.Arg1006fs
  • NP_001394836.1:p.Arg1006fs
  • NP_001394837.1:p.Arg1006fs
  • NP_001394838.1:p.Arg1006fs
  • NP_001394839.1:p.Arg1006fs
  • NP_001394844.1:p.Arg1005fs
  • NP_001394845.1:p.Arg1005fs
  • NP_001394846.1:p.Arg1005fs
  • NP_001394847.1:p.Arg1005fs
  • NP_001394848.1:p.Arg1035fs
  • NP_001394849.1:p.Arg988fs
  • NP_001394850.1:p.Arg988fs
  • NP_001394851.1:p.Arg988fs
  • NP_001394852.1:p.Arg988fs
  • NP_001394853.1:p.Arg988fs
  • NP_001394854.1:p.Arg988fs
  • NP_001394855.1:p.Arg988fs
  • NP_001394856.1:p.Arg988fs
  • NP_001394857.1:p.Arg988fs
  • NP_001394858.1:p.Arg988fs
  • NP_001394859.1:p.Arg987fs
  • NP_001394860.1:p.Arg987fs
  • NP_001394861.1:p.Arg987fs
  • NP_001394862.1:p.Arg988fs
  • NP_001394863.1:p.Arg987fs
  • NP_001394864.1:p.Arg988fs
  • NP_001394865.1:p.Arg987fs
  • NP_001394866.1:p.Arg1035fs
  • NP_001394867.1:p.Arg1035fs
  • NP_001394868.1:p.Arg1035fs
  • NP_001394869.1:p.Arg1034fs
  • NP_001394870.1:p.Arg1034fs
  • NP_001394871.1:p.Arg1029fs
  • NP_001394872.1:p.Arg1028fs
  • NP_001394873.1:p.Arg1029fs
  • NP_001394874.1:p.Arg1029fs
  • NP_001394875.1:p.Arg965fs
  • NP_001394876.1:p.Arg965fs
  • NP_001394877.1:p.Arg965fs
  • NP_001394878.1:p.Arg965fs
  • NP_001394879.1:p.Arg965fs
  • NP_001394880.1:p.Arg965fs
  • NP_001394881.1:p.Arg965fs
  • NP_001394882.1:p.Arg965fs
  • NP_001394883.1:p.Arg964fs
  • NP_001394884.1:p.Arg964fs
  • NP_001394885.1:p.Arg964fs
  • NP_001394886.1:p.Arg965fs
  • NP_001394887.1:p.Arg964fs
  • NP_001394888.1:p.Arg949fs
  • NP_001394889.1:p.Arg949fs
  • NP_001394891.1:p.Arg948fs
  • NP_001394892.1:p.Arg949fs
  • NP_001394893.1:p.Arg1028fs
  • NP_001394894.1:p.Arg908fs
  • NP_001394895.1:p.Arg780fs
  • NP_001394896.1:p.Arg780fs
  • NP_009225.1:p.Arg1076Glufs
  • NP_009225.1:p.Arg1076fs
  • NP_009228.2:p.Arg1029fs
  • NP_009231.2:p.Arg1076fs
  • LRG_292t1:c.3226del
  • LRG_292:g.125679del
  • LRG_292p1:p.Arg1076Glufs
  • NC_000017.10:g.41244322del
  • NM_007294.3:c.3226delA
  • NM_007294.3:c.3226delA
  • NR_027676.1:n.3362delA
  • U14680.1:n.3345delA
Protein change:
R1005fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3345&base_change=del A; dbSNP: rs273899703
NCBI 1000 Genomes Browser:
rs273899703
Molecular consequence:
  • NM_001407571.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3217del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3217del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3022del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3022del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2842del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2338del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2338del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-166del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-166del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1282del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1273del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144680Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(Apr 29, 2009) 		germlineclinical testing

SCV000299898Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325581Consortium 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) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation
Central Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144680.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299898.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325581.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided1not provided

Last Updated: Oct 8, 2024