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NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001358632.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)]

NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)

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.3225_3226del (p.Asn1075fs)
HGVS:
  • NC_000017.11:g.43092306_43092307del
  • NG_005905.2:g.125678_125679del
  • NG_087068.1:g.1288_1289del
  • NM_001407571.1:c.3012_3013del
  • NM_001407581.1:c.3225_3226del
  • NM_001407582.1:c.3225_3226del
  • NM_001407583.1:c.3225_3226del
  • NM_001407585.1:c.3225_3226del
  • NM_001407587.1:c.3222_3223del
  • NM_001407590.1:c.3222_3223del
  • NM_001407591.1:c.3222_3223del
  • NM_001407593.1:c.3225_3226del
  • NM_001407594.1:c.3225_3226del
  • NM_001407596.1:c.3225_3226del
  • NM_001407597.1:c.3225_3226del
  • NM_001407598.1:c.3225_3226del
  • NM_001407602.1:c.3225_3226del
  • NM_001407603.1:c.3225_3226del
  • NM_001407605.1:c.3225_3226del
  • NM_001407610.1:c.3222_3223del
  • NM_001407611.1:c.3222_3223del
  • NM_001407612.1:c.3222_3223del
  • NM_001407613.1:c.3222_3223del
  • NM_001407614.1:c.3222_3223del
  • NM_001407615.1:c.3222_3223del
  • NM_001407616.1:c.3225_3226del
  • NM_001407617.1:c.3225_3226del
  • NM_001407618.1:c.3225_3226del
  • NM_001407619.1:c.3225_3226del
  • NM_001407620.1:c.3225_3226del
  • NM_001407621.1:c.3225_3226del
  • NM_001407622.1:c.3225_3226del
  • NM_001407623.1:c.3225_3226del
  • NM_001407624.1:c.3225_3226del
  • NM_001407625.1:c.3225_3226del
  • NM_001407626.1:c.3225_3226del
  • NM_001407627.1:c.3222_3223del
  • NM_001407628.1:c.3222_3223del
  • NM_001407629.1:c.3222_3223del
  • NM_001407630.1:c.3222_3223del
  • NM_001407631.1:c.3222_3223del
  • NM_001407632.1:c.3222_3223del
  • NM_001407633.1:c.3222_3223del
  • NM_001407634.1:c.3222_3223del
  • NM_001407635.1:c.3222_3223del
  • NM_001407636.1:c.3222_3223del
  • NM_001407637.1:c.3222_3223del
  • NM_001407638.1:c.3222_3223del
  • NM_001407639.1:c.3225_3226del
  • NM_001407640.1:c.3225_3226del
  • NM_001407641.1:c.3225_3226del
  • NM_001407642.1:c.3225_3226del
  • NM_001407644.1:c.3222_3223del
  • NM_001407645.1:c.3222_3223del
  • NM_001407646.1:c.3216_3217del
  • NM_001407647.1:c.3216_3217del
  • NM_001407648.1:c.3102_3103del
  • NM_001407649.1:c.3099_3100del
  • NM_001407652.1:c.3225_3226del
  • NM_001407653.1:c.3147_3148del
  • NM_001407654.1:c.3147_3148del
  • NM_001407655.1:c.3147_3148del
  • NM_001407656.1:c.3147_3148del
  • NM_001407657.1:c.3147_3148del
  • NM_001407658.1:c.3147_3148del
  • NM_001407659.1:c.3144_3145del
  • NM_001407660.1:c.3144_3145del
  • NM_001407661.1:c.3144_3145del
  • NM_001407662.1:c.3144_3145del
  • NM_001407663.1:c.3147_3148del
  • NM_001407664.1:c.3102_3103del
  • NM_001407665.1:c.3102_3103del
  • NM_001407666.1:c.3102_3103del
  • NM_001407667.1:c.3102_3103del
  • NM_001407668.1:c.3102_3103del
  • NM_001407669.1:c.3102_3103del
  • NM_001407670.1:c.3099_3100del
  • NM_001407671.1:c.3099_3100del
  • NM_001407672.1:c.3099_3100del
  • NM_001407673.1:c.3099_3100del
  • NM_001407674.1:c.3102_3103del
  • NM_001407675.1:c.3102_3103del
  • NM_001407676.1:c.3102_3103del
  • NM_001407677.1:c.3102_3103del
  • NM_001407678.1:c.3102_3103del
  • NM_001407679.1:c.3102_3103del
  • NM_001407680.1:c.3102_3103del
  • NM_001407681.1:c.3102_3103del
  • NM_001407682.1:c.3102_3103del
  • NM_001407683.1:c.3102_3103del
  • NM_001407684.1:c.3225_3226del
  • NM_001407685.1:c.3099_3100del
  • NM_001407686.1:c.3099_3100del
  • NM_001407687.1:c.3099_3100del
  • NM_001407688.1:c.3099_3100del
  • NM_001407689.1:c.3099_3100del
  • NM_001407690.1:c.3099_3100del
  • NM_001407691.1:c.3099_3100del
  • NM_001407692.1:c.3084_3085del
  • NM_001407694.1:c.3084_3085del
  • NM_001407695.1:c.3084_3085del
  • NM_001407696.1:c.3084_3085del
  • NM_001407697.1:c.3084_3085del
  • NM_001407698.1:c.3084_3085del
  • NM_001407724.1:c.3084_3085del
  • NM_001407725.1:c.3084_3085del
  • NM_001407726.1:c.3084_3085del
  • NM_001407727.1:c.3084_3085del
  • NM_001407728.1:c.3084_3085del
  • NM_001407729.1:c.3084_3085del
  • NM_001407730.1:c.3084_3085del
  • NM_001407731.1:c.3084_3085del
  • NM_001407732.1:c.3084_3085del
  • NM_001407733.1:c.3084_3085del
  • NM_001407734.1:c.3084_3085del
  • NM_001407735.1:c.3084_3085del
  • NM_001407736.1:c.3084_3085del
  • NM_001407737.1:c.3084_3085del
  • NM_001407738.1:c.3084_3085del
  • NM_001407739.1:c.3084_3085del
  • NM_001407740.1:c.3081_3082del
  • NM_001407741.1:c.3081_3082del
  • NM_001407742.1:c.3081_3082del
  • NM_001407743.1:c.3081_3082del
  • NM_001407744.1:c.3081_3082del
  • NM_001407745.1:c.3081_3082del
  • NM_001407746.1:c.3081_3082del
  • NM_001407747.1:c.3081_3082del
  • NM_001407748.1:c.3081_3082del
  • NM_001407749.1:c.3081_3082del
  • NM_001407750.1:c.3084_3085del
  • NM_001407751.1:c.3084_3085del
  • NM_001407752.1:c.3084_3085del
  • NM_001407838.1:c.3081_3082del
  • NM_001407839.1:c.3081_3082del
  • NM_001407841.1:c.3081_3082del
  • NM_001407842.1:c.3081_3082del
  • NM_001407843.1:c.3081_3082del
  • NM_001407844.1:c.3081_3082del
  • NM_001407845.1:c.3081_3082del
  • NM_001407846.1:c.3081_3082del
  • NM_001407847.1:c.3081_3082del
  • NM_001407848.1:c.3081_3082del
  • NM_001407849.1:c.3081_3082del
  • NM_001407850.1:c.3084_3085del
  • NM_001407851.1:c.3084_3085del
  • NM_001407852.1:c.3084_3085del
  • NM_001407853.1:c.3012_3013del
  • NM_001407854.1:c.3225_3226del
  • NM_001407858.1:c.3225_3226del
  • NM_001407859.1:c.3225_3226del
  • NM_001407860.1:c.3222_3223del
  • NM_001407861.1:c.3222_3223del
  • NM_001407862.1:c.3024_3025del
  • NM_001407863.1:c.3102_3103del
  • NM_001407874.1:c.3021_3022del
  • NM_001407875.1:c.3021_3022del
  • NM_001407879.1:c.3015_3016del
  • NM_001407881.1:c.3015_3016del
  • NM_001407882.1:c.3015_3016del
  • NM_001407884.1:c.3015_3016del
  • NM_001407885.1:c.3015_3016del
  • NM_001407886.1:c.3015_3016del
  • NM_001407887.1:c.3015_3016del
  • NM_001407889.1:c.3015_3016del
  • NM_001407894.1:c.3012_3013del
  • NM_001407895.1:c.3012_3013del
  • NM_001407896.1:c.3012_3013del
  • NM_001407897.1:c.3012_3013del
  • NM_001407898.1:c.3012_3013del
  • NM_001407899.1:c.3012_3013del
  • NM_001407900.1:c.3015_3016del
  • NM_001407902.1:c.3015_3016del
  • NM_001407904.1:c.3015_3016del
  • NM_001407906.1:c.3015_3016del
  • NM_001407907.1:c.3015_3016del
  • NM_001407908.1:c.3015_3016del
  • NM_001407909.1:c.3015_3016del
  • NM_001407910.1:c.3015_3016del
  • NM_001407915.1:c.3012_3013del
  • NM_001407916.1:c.3012_3013del
  • NM_001407917.1:c.3012_3013del
  • NM_001407918.1:c.3012_3013del
  • NM_001407919.1:c.3102_3103del
  • NM_001407920.1:c.2961_2962del
  • NM_001407921.1:c.2961_2962del
  • NM_001407922.1:c.2961_2962del
  • NM_001407923.1:c.2961_2962del
  • NM_001407924.1:c.2961_2962del
  • NM_001407925.1:c.2961_2962del
  • NM_001407926.1:c.2961_2962del
  • NM_001407927.1:c.2961_2962del
  • NM_001407928.1:c.2961_2962del
  • NM_001407929.1:c.2961_2962del
  • NM_001407930.1:c.2958_2959del
  • NM_001407931.1:c.2958_2959del
  • NM_001407932.1:c.2958_2959del
  • NM_001407933.1:c.2961_2962del
  • NM_001407934.1:c.2958_2959del
  • NM_001407935.1:c.2961_2962del
  • NM_001407936.1:c.2958_2959del
  • NM_001407937.1:c.3102_3103del
  • NM_001407938.1:c.3102_3103del
  • NM_001407939.1:c.3102_3103del
  • NM_001407940.1:c.3099_3100del
  • NM_001407941.1:c.3099_3100del
  • NM_001407942.1:c.3084_3085del
  • NM_001407943.1:c.3081_3082del
  • NM_001407944.1:c.3084_3085del
  • NM_001407945.1:c.3084_3085del
  • NM_001407946.1:c.2892_2893del
  • NM_001407947.1:c.2892_2893del
  • NM_001407948.1:c.2892_2893del
  • NM_001407949.1:c.2892_2893del
  • NM_001407950.1:c.2892_2893del
  • NM_001407951.1:c.2892_2893del
  • NM_001407952.1:c.2892_2893del
  • NM_001407953.1:c.2892_2893del
  • NM_001407954.1:c.2889_2890del
  • NM_001407955.1:c.2889_2890del
  • NM_001407956.1:c.2889_2890del
  • NM_001407957.1:c.2892_2893del
  • NM_001407958.1:c.2889_2890del
  • NM_001407959.1:c.2844_2845del
  • NM_001407960.1:c.2844_2845del
  • NM_001407962.1:c.2841_2842del
  • NM_001407963.1:c.2844_2845del
  • NM_001407964.1:c.3081_3082del
  • NM_001407965.1:c.2721_2722del
  • NM_001407966.1:c.2337_2338del
  • NM_001407967.1:c.2337_2338del
  • NM_001407968.1:c.788-167_788-166del
  • NM_001407969.1:c.788-167_788-166del
  • NM_001407970.1:c.788-1274_788-1273del
  • NM_001407971.1:c.788-1274_788-1273del
  • NM_001407972.1:c.785-1274_785-1273del
  • NM_001407973.1:c.788-1274_788-1273del
  • NM_001407974.1:c.788-1274_788-1273del
  • NM_001407975.1:c.788-1274_788-1273del
  • NM_001407976.1:c.788-1274_788-1273del
  • NM_001407977.1:c.788-1274_788-1273del
  • NM_001407978.1:c.788-1274_788-1273del
  • NM_001407979.1:c.788-1274_788-1273del
  • NM_001407980.1:c.788-1274_788-1273del
  • NM_001407981.1:c.788-1274_788-1273del
  • NM_001407982.1:c.788-1274_788-1273del
  • NM_001407983.1:c.788-1274_788-1273del
  • NM_001407984.1:c.785-1274_785-1273del
  • NM_001407985.1:c.785-1274_785-1273del
  • NM_001407986.1:c.785-1274_785-1273del
  • NM_001407990.1:c.788-1274_788-1273del
  • NM_001407991.1:c.785-1274_785-1273del
  • NM_001407992.1:c.785-1274_785-1273del
  • NM_001407993.1:c.788-1274_788-1273del
  • NM_001408392.1:c.785-1274_785-1273del
  • NM_001408396.1:c.785-1274_785-1273del
  • NM_001408397.1:c.785-1274_785-1273del
  • NM_001408398.1:c.785-1274_785-1273del
  • NM_001408399.1:c.785-1274_785-1273del
  • NM_001408400.1:c.785-1274_785-1273del
  • NM_001408401.1:c.785-1274_785-1273del
  • NM_001408402.1:c.785-1274_785-1273del
  • NM_001408403.1:c.788-1274_788-1273del
  • NM_001408404.1:c.788-1274_788-1273del
  • NM_001408406.1:c.791-1283_791-1282del
  • NM_001408407.1:c.785-1274_785-1273del
  • NM_001408408.1:c.779-1274_779-1273del
  • NM_001408409.1:c.710-1274_710-1273del
  • NM_001408410.1:c.647-1274_647-1273del
  • NM_001408411.1:c.710-1274_710-1273del
  • NM_001408412.1:c.710-1274_710-1273del
  • NM_001408413.1:c.707-1274_707-1273del
  • NM_001408414.1:c.710-1274_710-1273del
  • NM_001408415.1:c.710-1274_710-1273del
  • NM_001408416.1:c.707-1274_707-1273del
  • NM_001408418.1:c.671-1274_671-1273del
  • NM_001408419.1:c.671-1274_671-1273del
  • NM_001408420.1:c.671-1274_671-1273del
  • NM_001408421.1:c.668-1274_668-1273del
  • NM_001408422.1:c.671-1274_671-1273del
  • NM_001408423.1:c.671-1274_671-1273del
  • NM_001408424.1:c.668-1274_668-1273del
  • NM_001408425.1:c.665-1274_665-1273del
  • NM_001408426.1:c.665-1274_665-1273del
  • NM_001408427.1:c.665-1274_665-1273del
  • NM_001408428.1:c.665-1274_665-1273del
  • NM_001408429.1:c.665-1274_665-1273del
  • NM_001408430.1:c.665-1274_665-1273del
  • NM_001408431.1:c.668-1274_668-1273del
  • NM_001408432.1:c.662-1274_662-1273del
  • NM_001408433.1:c.662-1274_662-1273del
  • NM_001408434.1:c.662-1274_662-1273del
  • NM_001408435.1:c.662-1274_662-1273del
  • NM_001408436.1:c.665-1274_665-1273del
  • NM_001408437.1:c.665-1274_665-1273del
  • NM_001408438.1:c.665-1274_665-1273del
  • NM_001408439.1:c.665-1274_665-1273del
  • NM_001408440.1:c.665-1274_665-1273del
  • NM_001408441.1:c.665-1274_665-1273del
  • NM_001408442.1:c.665-1274_665-1273del
  • NM_001408443.1:c.665-1274_665-1273del
  • NM_001408444.1:c.665-1274_665-1273del
  • NM_001408445.1:c.662-1274_662-1273del
  • NM_001408446.1:c.662-1274_662-1273del
  • NM_001408447.1:c.662-1274_662-1273del
  • NM_001408448.1:c.662-1274_662-1273del
  • NM_001408450.1:c.662-1274_662-1273del
  • NM_001408451.1:c.653-1274_653-1273del
  • NM_001408452.1:c.647-1274_647-1273del
  • NM_001408453.1:c.647-1274_647-1273del
  • NM_001408454.1:c.647-1274_647-1273del
  • NM_001408455.1:c.647-1274_647-1273del
  • NM_001408456.1:c.647-1274_647-1273del
  • NM_001408457.1:c.647-1274_647-1273del
  • NM_001408458.1:c.647-1274_647-1273del
  • NM_001408459.1:c.647-1274_647-1273del
  • NM_001408460.1:c.647-1274_647-1273del
  • NM_001408461.1:c.647-1274_647-1273del
  • NM_001408462.1:c.644-1274_644-1273del
  • NM_001408463.1:c.644-1274_644-1273del
  • NM_001408464.1:c.644-1274_644-1273del
  • NM_001408465.1:c.644-1274_644-1273del
  • NM_001408466.1:c.647-1274_647-1273del
  • NM_001408467.1:c.647-1274_647-1273del
  • NM_001408468.1:c.644-1274_644-1273del
  • NM_001408469.1:c.647-1274_647-1273del
  • NM_001408470.1:c.644-1274_644-1273del
  • NM_001408472.1:c.788-1274_788-1273del
  • NM_001408473.1:c.785-1274_785-1273del
  • NM_001408474.1:c.587-1274_587-1273del
  • NM_001408475.1:c.584-1274_584-1273del
  • NM_001408476.1:c.587-1274_587-1273del
  • NM_001408478.1:c.578-1274_578-1273del
  • NM_001408479.1:c.578-1274_578-1273del
  • NM_001408480.1:c.578-1274_578-1273del
  • NM_001408481.1:c.578-1274_578-1273del
  • NM_001408482.1:c.578-1274_578-1273del
  • NM_001408483.1:c.578-1274_578-1273del
  • NM_001408484.1:c.578-1274_578-1273del
  • NM_001408485.1:c.578-1274_578-1273del
  • NM_001408489.1:c.578-1274_578-1273del
  • NM_001408490.1:c.575-1274_575-1273del
  • NM_001408491.1:c.575-1274_575-1273del
  • NM_001408492.1:c.578-1274_578-1273del
  • NM_001408493.1:c.575-1274_575-1273del
  • NM_001408494.1:c.548-1274_548-1273del
  • NM_001408495.1:c.545-1274_545-1273del
  • NM_001408496.1:c.524-1274_524-1273del
  • NM_001408497.1:c.524-1274_524-1273del
  • NM_001408498.1:c.524-1274_524-1273del
  • NM_001408499.1:c.524-1274_524-1273del
  • NM_001408500.1:c.524-1274_524-1273del
  • NM_001408501.1:c.524-1274_524-1273del
  • NM_001408502.1:c.455-1274_455-1273del
  • NM_001408503.1:c.521-1274_521-1273del
  • NM_001408504.1:c.521-1274_521-1273del
  • NM_001408505.1:c.521-1274_521-1273del
  • NM_001408506.1:c.461-1274_461-1273del
  • NM_001408507.1:c.461-1274_461-1273del
  • NM_001408508.1:c.452-1274_452-1273del
  • NM_001408509.1:c.452-1274_452-1273del
  • NM_001408510.1:c.407-1274_407-1273del
  • NM_001408511.1:c.404-1274_404-1273del
  • NM_001408512.1:c.284-1274_284-1273del
  • NM_001408513.1:c.578-1274_578-1273del
  • NM_001408514.1:c.578-1274_578-1273del
  • NM_007294.4:c.3225_3226delMANE SELECT
  • NM_007297.4:c.3084_3085del
  • NM_007298.4:c.788-1274_788-1273del
  • NM_007299.4:c.788-1274_788-1273del
  • NM_007300.4:c.3225_3226del
  • NP_001394500.1:p.Asn1004fs
  • NP_001394510.1:p.Asn1075fs
  • NP_001394511.1:p.Asn1075fs
  • NP_001394512.1:p.Asn1075fs
  • NP_001394514.1:p.Asn1075fs
  • NP_001394516.1:p.Asn1074fs
  • NP_001394519.1:p.Asn1074fs
  • NP_001394520.1:p.Asn1074fs
  • NP_001394522.1:p.Asn1075fs
  • NP_001394523.1:p.Asn1075fs
  • NP_001394525.1:p.Asn1075fs
  • NP_001394526.1:p.Asn1075fs
  • NP_001394527.1:p.Asn1075fs
  • NP_001394531.1:p.Asn1075fs
  • NP_001394532.1:p.Asn1075fs
  • NP_001394534.1:p.Asn1075fs
  • NP_001394539.1:p.Asn1074fs
  • NP_001394540.1:p.Asn1074fs
  • NP_001394541.1:p.Asn1074fs
  • NP_001394542.1:p.Asn1074fs
  • NP_001394543.1:p.Asn1074fs
  • NP_001394544.1:p.Asn1074fs
  • NP_001394545.1:p.Asn1075fs
  • NP_001394546.1:p.Asn1075fs
  • NP_001394547.1:p.Asn1075fs
  • NP_001394548.1:p.Asn1075fs
  • NP_001394549.1:p.Asn1075fs
  • NP_001394550.1:p.Asn1075fs
  • NP_001394551.1:p.Asn1075fs
  • NP_001394552.1:p.Asn1075fs
  • NP_001394553.1:p.Asn1075fs
  • NP_001394554.1:p.Asn1075fs
  • NP_001394555.1:p.Asn1075fs
  • NP_001394556.1:p.Asn1074fs
  • NP_001394557.1:p.Asn1074fs
  • NP_001394558.1:p.Asn1074fs
  • NP_001394559.1:p.Asn1074fs
  • NP_001394560.1:p.Asn1074fs
  • NP_001394561.1:p.Asn1074fs
  • NP_001394562.1:p.Asn1074fs
  • NP_001394563.1:p.Asn1074fs
  • NP_001394564.1:p.Asn1074fs
  • NP_001394565.1:p.Asn1074fs
  • NP_001394566.1:p.Asn1074fs
  • NP_001394567.1:p.Asn1074fs
  • NP_001394568.1:p.Asn1075fs
  • NP_001394569.1:p.Asn1075fs
  • NP_001394570.1:p.Asn1075fs
  • NP_001394571.1:p.Asn1075fs
  • NP_001394573.1:p.Asn1074fs
  • NP_001394574.1:p.Asn1074fs
  • NP_001394575.1:p.Asn1072fs
  • NP_001394576.1:p.Asn1072fs
  • NP_001394577.1:p.Asn1034fs
  • NP_001394578.1:p.Asn1033fs
  • NP_001394581.1:p.Asn1075fs
  • NP_001394582.1:p.Asn1049fs
  • NP_001394583.1:p.Asn1049fs
  • NP_001394584.1:p.Asn1049fs
  • NP_001394585.1:p.Asn1049fs
  • NP_001394586.1:p.Asn1049fs
  • NP_001394587.1:p.Asn1049fs
  • NP_001394588.1:p.Asn1048fs
  • NP_001394589.1:p.Asn1048fs
  • NP_001394590.1:p.Asn1048fs
  • NP_001394591.1:p.Asn1048fs
  • NP_001394592.1:p.Asn1049fs
  • NP_001394593.1:p.Asn1034fs
  • NP_001394594.1:p.Asn1034fs
  • NP_001394595.1:p.Asn1034fs
  • NP_001394596.1:p.Asn1034fs
  • NP_001394597.1:p.Asn1034fs
  • NP_001394598.1:p.Asn1034fs
  • NP_001394599.1:p.Asn1033fs
  • NP_001394600.1:p.Asn1033fs
  • NP_001394601.1:p.Asn1033fs
  • NP_001394602.1:p.Asn1033fs
  • NP_001394603.1:p.Asn1034fs
  • NP_001394604.1:p.Asn1034fs
  • NP_001394605.1:p.Asn1034fs
  • NP_001394606.1:p.Asn1034fs
  • NP_001394607.1:p.Asn1034fs
  • NP_001394608.1:p.Asn1034fs
  • NP_001394609.1:p.Asn1034fs
  • NP_001394610.1:p.Asn1034fs
  • NP_001394611.1:p.Asn1034fs
  • NP_001394612.1:p.Asn1034fs
  • NP_001394613.1:p.Asn1075fs
  • NP_001394614.1:p.Asn1033fs
  • NP_001394615.1:p.Asn1033fs
  • NP_001394616.1:p.Asn1033fs
  • NP_001394617.1:p.Asn1033fs
  • NP_001394618.1:p.Asn1033fs
  • NP_001394619.1:p.Asn1033fs
  • NP_001394620.1:p.Asn1033fs
  • NP_001394621.1:p.Asn1028fs
  • NP_001394623.1:p.Asn1028fs
  • NP_001394624.1:p.Asn1028fs
  • NP_001394625.1:p.Asn1028fs
  • NP_001394626.1:p.Asn1028fs
  • NP_001394627.1:p.Asn1028fs
  • NP_001394653.1:p.Asn1028fs
  • NP_001394654.1:p.Asn1028fs
  • NP_001394655.1:p.Asn1028fs
  • NP_001394656.1:p.Asn1028fs
  • NP_001394657.1:p.Asn1028fs
  • NP_001394658.1:p.Asn1028fs
  • NP_001394659.1:p.Asn1028fs
  • NP_001394660.1:p.Asn1028fs
  • NP_001394661.1:p.Asn1028fs
  • NP_001394662.1:p.Asn1028fs
  • NP_001394663.1:p.Asn1028fs
  • NP_001394664.1:p.Asn1028fs
  • NP_001394665.1:p.Asn1028fs
  • NP_001394666.1:p.Asn1028fs
  • NP_001394667.1:p.Asn1028fs
  • NP_001394668.1:p.Asn1028fs
  • NP_001394669.1:p.Asn1027fs
  • NP_001394670.1:p.Asn1027fs
  • NP_001394671.1:p.Asn1027fs
  • NP_001394672.1:p.Asn1027fs
  • NP_001394673.1:p.Asn1027fs
  • NP_001394674.1:p.Asn1027fs
  • NP_001394675.1:p.Asn1027fs
  • NP_001394676.1:p.Asn1027fs
  • NP_001394677.1:p.Asn1027fs
  • NP_001394678.1:p.Asn1027fs
  • NP_001394679.1:p.Asn1028fs
  • NP_001394680.1:p.Asn1028fs
  • NP_001394681.1:p.Asn1028fs
  • NP_001394767.1:p.Asn1027fs
  • NP_001394768.1:p.Asn1027fs
  • NP_001394770.1:p.Asn1027fs
  • NP_001394771.1:p.Asn1027fs
  • NP_001394772.1:p.Asn1027fs
  • NP_001394773.1:p.Asn1027fs
  • NP_001394774.1:p.Asn1027fs
  • NP_001394775.1:p.Asn1027fs
  • NP_001394776.1:p.Asn1027fs
  • NP_001394777.1:p.Asn1027fs
  • NP_001394778.1:p.Asn1027fs
  • NP_001394779.1:p.Asn1028fs
  • NP_001394780.1:p.Asn1028fs
  • NP_001394781.1:p.Asn1028fs
  • NP_001394782.1:p.Asn1004fs
  • NP_001394783.1:p.Asn1075fs
  • NP_001394787.1:p.Asn1075fs
  • NP_001394788.1:p.Asn1075fs
  • NP_001394789.1:p.Asn1074fs
  • NP_001394790.1:p.Asn1074fs
  • NP_001394791.1:p.Asn1008fs
  • NP_001394792.1:p.Asn1034fs
  • NP_001394803.1:p.Asn1007fs
  • NP_001394804.1:p.Asn1007fs
  • NP_001394808.1:p.Asn1005fs
  • NP_001394810.1:p.Asn1005fs
  • NP_001394811.1:p.Asn1005fs
  • NP_001394813.1:p.Asn1005fs
  • NP_001394814.1:p.Asn1005fs
  • NP_001394815.1:p.Asn1005fs
  • NP_001394816.1:p.Asn1005fs
  • NP_001394818.1:p.Asn1005fs
  • NP_001394823.1:p.Asn1004fs
  • NP_001394824.1:p.Asn1004fs
  • NP_001394825.1:p.Asn1004fs
  • NP_001394826.1:p.Asn1004fs
  • NP_001394827.1:p.Asn1004fs
  • NP_001394828.1:p.Asn1004fs
  • NP_001394829.1:p.Asn1005fs
  • NP_001394831.1:p.Asn1005fs
  • NP_001394833.1:p.Asn1005fs
  • NP_001394835.1:p.Asn1005fs
  • NP_001394836.1:p.Asn1005fs
  • NP_001394837.1:p.Asn1005fs
  • NP_001394838.1:p.Asn1005fs
  • NP_001394839.1:p.Asn1005fs
  • NP_001394844.1:p.Asn1004fs
  • NP_001394845.1:p.Asn1004fs
  • NP_001394846.1:p.Asn1004fs
  • NP_001394847.1:p.Asn1004fs
  • NP_001394848.1:p.Asn1034fs
  • NP_001394849.1:p.Asn987fs
  • NP_001394850.1:p.Asn987fs
  • NP_001394851.1:p.Asn987fs
  • NP_001394852.1:p.Asn987fs
  • NP_001394853.1:p.Asn987fs
  • NP_001394854.1:p.Asn987fs
  • NP_001394855.1:p.Asn987fs
  • NP_001394856.1:p.Asn987fs
  • NP_001394857.1:p.Asn987fs
  • NP_001394858.1:p.Asn987fs
  • NP_001394859.1:p.Asn986fs
  • NP_001394860.1:p.Asn986fs
  • NP_001394861.1:p.Asn986fs
  • NP_001394862.1:p.Asn987fs
  • NP_001394863.1:p.Asn986fs
  • NP_001394864.1:p.Asn987fs
  • NP_001394865.1:p.Asn986fs
  • NP_001394866.1:p.Asn1034fs
  • NP_001394867.1:p.Asn1034fs
  • NP_001394868.1:p.Asn1034fs
  • NP_001394869.1:p.Asn1033fs
  • NP_001394870.1:p.Asn1033fs
  • NP_001394871.1:p.Asn1028fs
  • NP_001394872.1:p.Asn1027fs
  • NP_001394873.1:p.Asn1028fs
  • NP_001394874.1:p.Asn1028fs
  • NP_001394875.1:p.Asn964fs
  • NP_001394876.1:p.Asn964fs
  • NP_001394877.1:p.Asn964fs
  • NP_001394878.1:p.Asn964fs
  • NP_001394879.1:p.Asn964fs
  • NP_001394880.1:p.Asn964fs
  • NP_001394881.1:p.Asn964fs
  • NP_001394882.1:p.Asn964fs
  • NP_001394883.1:p.Asn963fs
  • NP_001394884.1:p.Asn963fs
  • NP_001394885.1:p.Asn963fs
  • NP_001394886.1:p.Asn964fs
  • NP_001394887.1:p.Asn963fs
  • NP_001394888.1:p.Asn948fs
  • NP_001394889.1:p.Asn948fs
  • NP_001394891.1:p.Asn947fs
  • NP_001394892.1:p.Asn948fs
  • NP_001394893.1:p.Asn1027fs
  • NP_001394894.1:p.Asn907fs
  • NP_001394895.1:p.Asn779fs
  • NP_001394896.1:p.Asn779fs
  • NP_009225.1:p.Asn1075Lysfs
  • NP_009225.1:p.Asn1075fs
  • NP_009228.2:p.Asn1028fs
  • NP_009231.2:p.Asn1075fs
  • LRG_292t1:c.3224_3225del
  • LRG_292:g.125678_125679del
  • LRG_292p1:p.Asn1075Lysfs
  • NC_000017.10:g.41244323_41244324del
  • NM_007294.3:c.3224_3225delAC
  • NR_027676.1:n.3360_3361delAC
Protein change:
N1004fs
Links:
dbSNP: rs2154335955
NCBI 1000 Genomes Browser:
rs2154335955
Molecular consequence:
  • NM_001407571.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3216_3217del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3216_3217del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3144_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3144_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3144_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3144_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3222_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3024_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3021_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3021_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2958_2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2958_2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2958_2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2958_2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2958_2959del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3099_3100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2889_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2889_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2889_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2889_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2844_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2844_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2841_2842del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2844_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3081_3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2721_2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2337_2338del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2337_2338del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-167_788-166del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-167_788-166del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1283_791-1282del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1274_779-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1274_710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1274_710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1274_710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1274_707-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1274_710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1274_710-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1274_707-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1274_671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1274_671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1274_671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1274_668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1274_671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1274_671-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1274_668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1274_668-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1274_665-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1274_662-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1274_653-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1274_647-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1274_644-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1274_785-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1274_587-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1274_584-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1274_587-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1274_575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1274_575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1274_575-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1274_548-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1274_545-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1274_524-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1274_455-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1274_521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1274_521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1274_521-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1274_461-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1274_461-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1274_452-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1274_452-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1274_407-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1274_404-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1274_284-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1274_578-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1274_788-1273del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001554423Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001554423.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided

Description

The BRCA1 p.Asn1075Lysfs*10 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, or UMD-LSDB, databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3225_3226del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1075 and leads to a premature stop codon at position 1084. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in BRCA1 associated cancers and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

Last Updated: Jun 23, 2024