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NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) AND BRCA1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 12, 2024
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:
RCV004758625.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)]

NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
HGVS:
  • NC_000017.11:g.43092437_43092447del
  • NG_005905.2:g.125537_125547del
  • NM_001407571.1:c.2871_2881del
  • NM_001407581.1:c.3084_3094del
  • NM_001407582.1:c.3084_3094del
  • NM_001407583.1:c.3084_3094del
  • NM_001407585.1:c.3084_3094del
  • NM_001407587.1:c.3081_3091del
  • NM_001407590.1:c.3081_3091del
  • NM_001407591.1:c.3081_3091del
  • NM_001407593.1:c.3084_3094del
  • NM_001407594.1:c.3084_3094del
  • NM_001407596.1:c.3084_3094del
  • NM_001407597.1:c.3084_3094del
  • NM_001407598.1:c.3084_3094del
  • NM_001407602.1:c.3084_3094del
  • NM_001407603.1:c.3084_3094del
  • NM_001407605.1:c.3084_3094del
  • NM_001407610.1:c.3081_3091del
  • NM_001407611.1:c.3081_3091del
  • NM_001407612.1:c.3081_3091del
  • NM_001407613.1:c.3081_3091del
  • NM_001407614.1:c.3081_3091del
  • NM_001407615.1:c.3081_3091del
  • NM_001407616.1:c.3084_3094del
  • NM_001407617.1:c.3084_3094del
  • NM_001407618.1:c.3084_3094del
  • NM_001407619.1:c.3084_3094del
  • NM_001407620.1:c.3084_3094del
  • NM_001407621.1:c.3084_3094del
  • NM_001407622.1:c.3084_3094del
  • NM_001407623.1:c.3084_3094del
  • NM_001407624.1:c.3084_3094del
  • NM_001407625.1:c.3084_3094del
  • NM_001407626.1:c.3084_3094del
  • NM_001407627.1:c.3081_3091del
  • NM_001407628.1:c.3081_3091del
  • NM_001407629.1:c.3081_3091del
  • NM_001407630.1:c.3081_3091del
  • NM_001407631.1:c.3081_3091del
  • NM_001407632.1:c.3081_3091del
  • NM_001407633.1:c.3081_3091del
  • NM_001407634.1:c.3081_3091del
  • NM_001407635.1:c.3081_3091del
  • NM_001407636.1:c.3081_3091del
  • NM_001407637.1:c.3081_3091del
  • NM_001407638.1:c.3081_3091del
  • NM_001407639.1:c.3084_3094del
  • NM_001407640.1:c.3084_3094del
  • NM_001407641.1:c.3084_3094del
  • NM_001407642.1:c.3084_3094del
  • NM_001407644.1:c.3081_3091del
  • NM_001407645.1:c.3081_3091del
  • NM_001407646.1:c.3075_3085del
  • NM_001407647.1:c.3075_3085del
  • NM_001407648.1:c.2961_2971del
  • NM_001407649.1:c.2958_2968del
  • NM_001407652.1:c.3084_3094del
  • NM_001407653.1:c.3006_3016del
  • NM_001407654.1:c.3006_3016del
  • NM_001407655.1:c.3006_3016del
  • NM_001407656.1:c.3006_3016del
  • NM_001407657.1:c.3006_3016del
  • NM_001407658.1:c.3006_3016del
  • NM_001407659.1:c.3003_3013del
  • NM_001407660.1:c.3003_3013del
  • NM_001407661.1:c.3003_3013del
  • NM_001407662.1:c.3003_3013del
  • NM_001407663.1:c.3006_3016del
  • NM_001407664.1:c.2961_2971del
  • NM_001407665.1:c.2961_2971del
  • NM_001407666.1:c.2961_2971del
  • NM_001407667.1:c.2961_2971del
  • NM_001407668.1:c.2961_2971del
  • NM_001407669.1:c.2961_2971del
  • NM_001407670.1:c.2958_2968del
  • NM_001407671.1:c.2958_2968del
  • NM_001407672.1:c.2958_2968del
  • NM_001407673.1:c.2958_2968del
  • NM_001407674.1:c.2961_2971del
  • NM_001407675.1:c.2961_2971del
  • NM_001407676.1:c.2961_2971del
  • NM_001407677.1:c.2961_2971del
  • NM_001407678.1:c.2961_2971del
  • NM_001407679.1:c.2961_2971del
  • NM_001407680.1:c.2961_2971del
  • NM_001407681.1:c.2961_2971del
  • NM_001407682.1:c.2961_2971del
  • NM_001407683.1:c.2961_2971del
  • NM_001407684.1:c.3084_3094del
  • NM_001407685.1:c.2958_2968del
  • NM_001407686.1:c.2958_2968del
  • NM_001407687.1:c.2958_2968del
  • NM_001407688.1:c.2958_2968del
  • NM_001407689.1:c.2958_2968del
  • NM_001407690.1:c.2958_2968del
  • NM_001407691.1:c.2958_2968del
  • NM_001407692.1:c.2943_2953del
  • NM_001407694.1:c.2943_2953del
  • NM_001407695.1:c.2943_2953del
  • NM_001407696.1:c.2943_2953del
  • NM_001407697.1:c.2943_2953del
  • NM_001407698.1:c.2943_2953del
  • NM_001407724.1:c.2943_2953del
  • NM_001407725.1:c.2943_2953del
  • NM_001407726.1:c.2943_2953del
  • NM_001407727.1:c.2943_2953del
  • NM_001407728.1:c.2943_2953del
  • NM_001407729.1:c.2943_2953del
  • NM_001407730.1:c.2943_2953del
  • NM_001407731.1:c.2943_2953del
  • NM_001407732.1:c.2943_2953del
  • NM_001407733.1:c.2943_2953del
  • NM_001407734.1:c.2943_2953del
  • NM_001407735.1:c.2943_2953del
  • NM_001407736.1:c.2943_2953del
  • NM_001407737.1:c.2943_2953del
  • NM_001407738.1:c.2943_2953del
  • NM_001407739.1:c.2943_2953del
  • NM_001407740.1:c.2940_2950del
  • NM_001407741.1:c.2940_2950del
  • NM_001407742.1:c.2940_2950del
  • NM_001407743.1:c.2940_2950del
  • NM_001407744.1:c.2940_2950del
  • NM_001407745.1:c.2940_2950del
  • NM_001407746.1:c.2940_2950del
  • NM_001407747.1:c.2940_2950del
  • NM_001407748.1:c.2940_2950del
  • NM_001407749.1:c.2940_2950del
  • NM_001407750.1:c.2943_2953del
  • NM_001407751.1:c.2943_2953del
  • NM_001407752.1:c.2943_2953del
  • NM_001407838.1:c.2940_2950del
  • NM_001407839.1:c.2940_2950del
  • NM_001407841.1:c.2940_2950del
  • NM_001407842.1:c.2940_2950del
  • NM_001407843.1:c.2940_2950del
  • NM_001407844.1:c.2940_2950del
  • NM_001407845.1:c.2940_2950del
  • NM_001407846.1:c.2940_2950del
  • NM_001407847.1:c.2940_2950del
  • NM_001407848.1:c.2940_2950del
  • NM_001407849.1:c.2940_2950del
  • NM_001407850.1:c.2943_2953del
  • NM_001407851.1:c.2943_2953del
  • NM_001407852.1:c.2943_2953del
  • NM_001407853.1:c.2871_2881del
  • NM_001407854.1:c.3084_3094del
  • NM_001407858.1:c.3084_3094del
  • NM_001407859.1:c.3084_3094del
  • NM_001407860.1:c.3081_3091del
  • NM_001407861.1:c.3081_3091del
  • NM_001407862.1:c.2883_2893del
  • NM_001407863.1:c.2961_2971del
  • NM_001407874.1:c.2880_2890del
  • NM_001407875.1:c.2880_2890del
  • NM_001407879.1:c.2874_2884del
  • NM_001407881.1:c.2874_2884del
  • NM_001407882.1:c.2874_2884del
  • NM_001407884.1:c.2874_2884del
  • NM_001407885.1:c.2874_2884del
  • NM_001407886.1:c.2874_2884del
  • NM_001407887.1:c.2874_2884del
  • NM_001407889.1:c.2874_2884del
  • NM_001407894.1:c.2871_2881del
  • NM_001407895.1:c.2871_2881del
  • NM_001407896.1:c.2871_2881del
  • NM_001407897.1:c.2871_2881del
  • NM_001407898.1:c.2871_2881del
  • NM_001407899.1:c.2871_2881del
  • NM_001407900.1:c.2874_2884del
  • NM_001407902.1:c.2874_2884del
  • NM_001407904.1:c.2874_2884del
  • NM_001407906.1:c.2874_2884del
  • NM_001407907.1:c.2874_2884del
  • NM_001407908.1:c.2874_2884del
  • NM_001407909.1:c.2874_2884del
  • NM_001407910.1:c.2874_2884del
  • NM_001407915.1:c.2871_2881del
  • NM_001407916.1:c.2871_2881del
  • NM_001407917.1:c.2871_2881del
  • NM_001407918.1:c.2871_2881del
  • NM_001407919.1:c.2961_2971del
  • NM_001407920.1:c.2820_2830del
  • NM_001407921.1:c.2820_2830del
  • NM_001407922.1:c.2820_2830del
  • NM_001407923.1:c.2820_2830del
  • NM_001407924.1:c.2820_2830del
  • NM_001407925.1:c.2820_2830del
  • NM_001407926.1:c.2820_2830del
  • NM_001407927.1:c.2820_2830del
  • NM_001407928.1:c.2820_2830del
  • NM_001407929.1:c.2820_2830del
  • NM_001407930.1:c.2817_2827del
  • NM_001407931.1:c.2817_2827del
  • NM_001407932.1:c.2817_2827del
  • NM_001407933.1:c.2820_2830del
  • NM_001407934.1:c.2817_2827del
  • NM_001407935.1:c.2820_2830del
  • NM_001407936.1:c.2817_2827del
  • NM_001407937.1:c.2961_2971del
  • NM_001407938.1:c.2961_2971del
  • NM_001407939.1:c.2961_2971del
  • NM_001407940.1:c.2958_2968del
  • NM_001407941.1:c.2958_2968del
  • NM_001407942.1:c.2943_2953del
  • NM_001407943.1:c.2940_2950del
  • NM_001407944.1:c.2943_2953del
  • NM_001407945.1:c.2943_2953del
  • NM_001407946.1:c.2751_2761del
  • NM_001407947.1:c.2751_2761del
  • NM_001407948.1:c.2751_2761del
  • NM_001407949.1:c.2751_2761del
  • NM_001407950.1:c.2751_2761del
  • NM_001407951.1:c.2751_2761del
  • NM_001407952.1:c.2751_2761del
  • NM_001407953.1:c.2751_2761del
  • NM_001407954.1:c.2748_2758del
  • NM_001407955.1:c.2748_2758del
  • NM_001407956.1:c.2748_2758del
  • NM_001407957.1:c.2751_2761del
  • NM_001407958.1:c.2748_2758del
  • NM_001407959.1:c.2703_2713del
  • NM_001407960.1:c.2703_2713del
  • NM_001407962.1:c.2700_2710del
  • NM_001407963.1:c.2703_2713del
  • NM_001407964.1:c.2940_2950del
  • NM_001407965.1:c.2580_2590del
  • NM_001407966.1:c.2196_2206del
  • NM_001407967.1:c.2196_2206del
  • NM_001407968.1:c.788-308_788-298del
  • NM_001407969.1:c.788-308_788-298del
  • NM_001407970.1:c.788-1415_788-1405del
  • NM_001407971.1:c.788-1415_788-1405del
  • NM_001407972.1:c.785-1415_785-1405del
  • NM_001407973.1:c.788-1415_788-1405del
  • NM_001407974.1:c.788-1415_788-1405del
  • NM_001407975.1:c.788-1415_788-1405del
  • NM_001407976.1:c.788-1415_788-1405del
  • NM_001407977.1:c.788-1415_788-1405del
  • NM_001407978.1:c.788-1415_788-1405del
  • NM_001407979.1:c.788-1415_788-1405del
  • NM_001407980.1:c.788-1415_788-1405del
  • NM_001407981.1:c.788-1415_788-1405del
  • NM_001407982.1:c.788-1415_788-1405del
  • NM_001407983.1:c.788-1415_788-1405del
  • NM_001407984.1:c.785-1415_785-1405del
  • NM_001407985.1:c.785-1415_785-1405del
  • NM_001407986.1:c.785-1415_785-1405del
  • NM_001407990.1:c.788-1415_788-1405del
  • NM_001407991.1:c.785-1415_785-1405del
  • NM_001407992.1:c.785-1415_785-1405del
  • NM_001407993.1:c.788-1415_788-1405del
  • NM_001408392.1:c.785-1415_785-1405del
  • NM_001408396.1:c.785-1415_785-1405del
  • NM_001408397.1:c.785-1415_785-1405del
  • NM_001408398.1:c.785-1415_785-1405del
  • NM_001408399.1:c.785-1415_785-1405del
  • NM_001408400.1:c.785-1415_785-1405del
  • NM_001408401.1:c.785-1415_785-1405del
  • NM_001408402.1:c.785-1415_785-1405del
  • NM_001408403.1:c.788-1415_788-1405del
  • NM_001408404.1:c.788-1415_788-1405del
  • NM_001408406.1:c.791-1424_791-1414del
  • NM_001408407.1:c.785-1415_785-1405del
  • NM_001408408.1:c.779-1415_779-1405del
  • NM_001408409.1:c.710-1415_710-1405del
  • NM_001408410.1:c.647-1415_647-1405del
  • NM_001408411.1:c.710-1415_710-1405del
  • NM_001408412.1:c.710-1415_710-1405del
  • NM_001408413.1:c.707-1415_707-1405del
  • NM_001408414.1:c.710-1415_710-1405del
  • NM_001408415.1:c.710-1415_710-1405del
  • NM_001408416.1:c.707-1415_707-1405del
  • NM_001408418.1:c.671-1415_671-1405del
  • NM_001408419.1:c.671-1415_671-1405del
  • NM_001408420.1:c.671-1415_671-1405del
  • NM_001408421.1:c.668-1415_668-1405del
  • NM_001408422.1:c.671-1415_671-1405del
  • NM_001408423.1:c.671-1415_671-1405del
  • NM_001408424.1:c.668-1415_668-1405del
  • NM_001408425.1:c.665-1415_665-1405del
  • NM_001408426.1:c.665-1415_665-1405del
  • NM_001408427.1:c.665-1415_665-1405del
  • NM_001408428.1:c.665-1415_665-1405del
  • NM_001408429.1:c.665-1415_665-1405del
  • NM_001408430.1:c.665-1415_665-1405del
  • NM_001408431.1:c.668-1415_668-1405del
  • NM_001408432.1:c.662-1415_662-1405del
  • NM_001408433.1:c.662-1415_662-1405del
  • NM_001408434.1:c.662-1415_662-1405del
  • NM_001408435.1:c.662-1415_662-1405del
  • NM_001408436.1:c.665-1415_665-1405del
  • NM_001408437.1:c.665-1415_665-1405del
  • NM_001408438.1:c.665-1415_665-1405del
  • NM_001408439.1:c.665-1415_665-1405del
  • NM_001408440.1:c.665-1415_665-1405del
  • NM_001408441.1:c.665-1415_665-1405del
  • NM_001408442.1:c.665-1415_665-1405del
  • NM_001408443.1:c.665-1415_665-1405del
  • NM_001408444.1:c.665-1415_665-1405del
  • NM_001408445.1:c.662-1415_662-1405del
  • NM_001408446.1:c.662-1415_662-1405del
  • NM_001408447.1:c.662-1415_662-1405del
  • NM_001408448.1:c.662-1415_662-1405del
  • NM_001408450.1:c.662-1415_662-1405del
  • NM_001408451.1:c.653-1415_653-1405del
  • NM_001408452.1:c.647-1415_647-1405del
  • NM_001408453.1:c.647-1415_647-1405del
  • NM_001408454.1:c.647-1415_647-1405del
  • NM_001408455.1:c.647-1415_647-1405del
  • NM_001408456.1:c.647-1415_647-1405del
  • NM_001408457.1:c.647-1415_647-1405del
  • NM_001408458.1:c.647-1415_647-1405del
  • NM_001408459.1:c.647-1415_647-1405del
  • NM_001408460.1:c.647-1415_647-1405del
  • NM_001408461.1:c.647-1415_647-1405del
  • NM_001408462.1:c.644-1415_644-1405del
  • NM_001408463.1:c.644-1415_644-1405del
  • NM_001408464.1:c.644-1415_644-1405del
  • NM_001408465.1:c.644-1415_644-1405del
  • NM_001408466.1:c.647-1415_647-1405del
  • NM_001408467.1:c.647-1415_647-1405del
  • NM_001408468.1:c.644-1415_644-1405del
  • NM_001408469.1:c.647-1415_647-1405del
  • NM_001408470.1:c.644-1415_644-1405del
  • NM_001408472.1:c.788-1415_788-1405del
  • NM_001408473.1:c.785-1415_785-1405del
  • NM_001408474.1:c.587-1415_587-1405del
  • NM_001408475.1:c.584-1415_584-1405del
  • NM_001408476.1:c.587-1415_587-1405del
  • NM_001408478.1:c.578-1415_578-1405del
  • NM_001408479.1:c.578-1415_578-1405del
  • NM_001408480.1:c.578-1415_578-1405del
  • NM_001408481.1:c.578-1415_578-1405del
  • NM_001408482.1:c.578-1415_578-1405del
  • NM_001408483.1:c.578-1415_578-1405del
  • NM_001408484.1:c.578-1415_578-1405del
  • NM_001408485.1:c.578-1415_578-1405del
  • NM_001408489.1:c.578-1415_578-1405del
  • NM_001408490.1:c.575-1415_575-1405del
  • NM_001408491.1:c.575-1415_575-1405del
  • NM_001408492.1:c.578-1415_578-1405del
  • NM_001408493.1:c.575-1415_575-1405del
  • NM_001408494.1:c.548-1415_548-1405del
  • NM_001408495.1:c.545-1415_545-1405del
  • NM_001408496.1:c.524-1415_524-1405del
  • NM_001408497.1:c.524-1415_524-1405del
  • NM_001408498.1:c.524-1415_524-1405del
  • NM_001408499.1:c.524-1415_524-1405del
  • NM_001408500.1:c.524-1415_524-1405del
  • NM_001408501.1:c.524-1415_524-1405del
  • NM_001408502.1:c.455-1415_455-1405del
  • NM_001408503.1:c.521-1415_521-1405del
  • NM_001408504.1:c.521-1415_521-1405del
  • NM_001408505.1:c.521-1415_521-1405del
  • NM_001408506.1:c.461-1415_461-1405del
  • NM_001408507.1:c.461-1415_461-1405del
  • NM_001408508.1:c.452-1415_452-1405del
  • NM_001408509.1:c.452-1415_452-1405del
  • NM_001408510.1:c.407-1415_407-1405del
  • NM_001408511.1:c.404-1415_404-1405del
  • NM_001408512.1:c.284-1415_284-1405del
  • NM_001408513.1:c.578-1415_578-1405del
  • NM_001408514.1:c.578-1415_578-1405del
  • NM_007294.4:c.3084_3094delMANE SELECT
  • NM_007297.4:c.2943_2953del
  • NM_007298.4:c.788-1415_788-1405del
  • NM_007299.4:c.788-1415_788-1405del
  • NM_007300.4:c.3084_3094del
  • NP_001394500.1:p.Asn958fs
  • NP_001394510.1:p.Asn1029fs
  • NP_001394511.1:p.Asn1029fs
  • NP_001394512.1:p.Asn1029fs
  • NP_001394514.1:p.Asn1029fs
  • NP_001394516.1:p.Asn1028fs
  • NP_001394519.1:p.Asn1028fs
  • NP_001394520.1:p.Asn1028fs
  • NP_001394522.1:p.Asn1029fs
  • NP_001394523.1:p.Asn1029fs
  • NP_001394525.1:p.Asn1029fs
  • NP_001394526.1:p.Asn1029fs
  • NP_001394527.1:p.Asn1029fs
  • NP_001394531.1:p.Asn1029fs
  • NP_001394532.1:p.Asn1029fs
  • NP_001394534.1:p.Asn1029fs
  • NP_001394539.1:p.Asn1028fs
  • NP_001394540.1:p.Asn1028fs
  • NP_001394541.1:p.Asn1028fs
  • NP_001394542.1:p.Asn1028fs
  • NP_001394543.1:p.Asn1028fs
  • NP_001394544.1:p.Asn1028fs
  • NP_001394545.1:p.Asn1029fs
  • NP_001394546.1:p.Asn1029fs
  • NP_001394547.1:p.Asn1029fs
  • NP_001394548.1:p.Asn1029fs
  • NP_001394549.1:p.Asn1029fs
  • NP_001394550.1:p.Asn1029fs
  • NP_001394551.1:p.Asn1029fs
  • NP_001394552.1:p.Asn1029fs
  • NP_001394553.1:p.Asn1029fs
  • NP_001394554.1:p.Asn1029fs
  • NP_001394555.1:p.Asn1029fs
  • NP_001394556.1:p.Asn1028fs
  • NP_001394557.1:p.Asn1028fs
  • NP_001394558.1:p.Asn1028fs
  • NP_001394559.1:p.Asn1028fs
  • NP_001394560.1:p.Asn1028fs
  • NP_001394561.1:p.Asn1028fs
  • NP_001394562.1:p.Asn1028fs
  • NP_001394563.1:p.Asn1028fs
  • NP_001394564.1:p.Asn1028fs
  • NP_001394565.1:p.Asn1028fs
  • NP_001394566.1:p.Asn1028fs
  • NP_001394567.1:p.Asn1028fs
  • NP_001394568.1:p.Asn1029fs
  • NP_001394569.1:p.Asn1029fs
  • NP_001394570.1:p.Asn1029fs
  • NP_001394571.1:p.Asn1029fs
  • NP_001394573.1:p.Asn1028fs
  • NP_001394574.1:p.Asn1028fs
  • NP_001394575.1:p.Asn1026fs
  • NP_001394576.1:p.Asn1026fs
  • NP_001394577.1:p.Asn988fs
  • NP_001394578.1:p.Asn987fs
  • NP_001394581.1:p.Asn1029fs
  • NP_001394582.1:p.Asn1003fs
  • NP_001394583.1:p.Asn1003fs
  • NP_001394584.1:p.Asn1003fs
  • NP_001394585.1:p.Asn1003fs
  • NP_001394586.1:p.Asn1003fs
  • NP_001394587.1:p.Asn1003fs
  • NP_001394588.1:p.Asn1002fs
  • NP_001394589.1:p.Asn1002fs
  • NP_001394590.1:p.Asn1002fs
  • NP_001394591.1:p.Asn1002fs
  • NP_001394592.1:p.Asn1003fs
  • NP_001394593.1:p.Asn988fs
  • NP_001394594.1:p.Asn988fs
  • NP_001394595.1:p.Asn988fs
  • NP_001394596.1:p.Asn988fs
  • NP_001394597.1:p.Asn988fs
  • NP_001394598.1:p.Asn988fs
  • NP_001394599.1:p.Asn987fs
  • NP_001394600.1:p.Asn987fs
  • NP_001394601.1:p.Asn987fs
  • NP_001394602.1:p.Asn987fs
  • NP_001394603.1:p.Asn988fs
  • NP_001394604.1:p.Asn988fs
  • NP_001394605.1:p.Asn988fs
  • NP_001394606.1:p.Asn988fs
  • NP_001394607.1:p.Asn988fs
  • NP_001394608.1:p.Asn988fs
  • NP_001394609.1:p.Asn988fs
  • NP_001394610.1:p.Asn988fs
  • NP_001394611.1:p.Asn988fs
  • NP_001394612.1:p.Asn988fs
  • NP_001394613.1:p.Asn1029fs
  • NP_001394614.1:p.Asn987fs
  • NP_001394615.1:p.Asn987fs
  • NP_001394616.1:p.Asn987fs
  • NP_001394617.1:p.Asn987fs
  • NP_001394618.1:p.Asn987fs
  • NP_001394619.1:p.Asn987fs
  • NP_001394620.1:p.Asn987fs
  • NP_001394621.1:p.Asn982fs
  • NP_001394623.1:p.Asn982fs
  • NP_001394624.1:p.Asn982fs
  • NP_001394625.1:p.Asn982fs
  • NP_001394626.1:p.Asn982fs
  • NP_001394627.1:p.Asn982fs
  • NP_001394653.1:p.Asn982fs
  • NP_001394654.1:p.Asn982fs
  • NP_001394655.1:p.Asn982fs
  • NP_001394656.1:p.Asn982fs
  • NP_001394657.1:p.Asn982fs
  • NP_001394658.1:p.Asn982fs
  • NP_001394659.1:p.Asn982fs
  • NP_001394660.1:p.Asn982fs
  • NP_001394661.1:p.Asn982fs
  • NP_001394662.1:p.Asn982fs
  • NP_001394663.1:p.Asn982fs
  • NP_001394664.1:p.Asn982fs
  • NP_001394665.1:p.Asn982fs
  • NP_001394666.1:p.Asn982fs
  • NP_001394667.1:p.Asn982fs
  • NP_001394668.1:p.Asn982fs
  • NP_001394669.1:p.Asn981fs
  • NP_001394670.1:p.Asn981fs
  • NP_001394671.1:p.Asn981fs
  • NP_001394672.1:p.Asn981fs
  • NP_001394673.1:p.Asn981fs
  • NP_001394674.1:p.Asn981fs
  • NP_001394675.1:p.Asn981fs
  • NP_001394676.1:p.Asn981fs
  • NP_001394677.1:p.Asn981fs
  • NP_001394678.1:p.Asn981fs
  • NP_001394679.1:p.Asn982fs
  • NP_001394680.1:p.Asn982fs
  • NP_001394681.1:p.Asn982fs
  • NP_001394767.1:p.Asn981fs
  • NP_001394768.1:p.Asn981fs
  • NP_001394770.1:p.Asn981fs
  • NP_001394771.1:p.Asn981fs
  • NP_001394772.1:p.Asn981fs
  • NP_001394773.1:p.Asn981fs
  • NP_001394774.1:p.Asn981fs
  • NP_001394775.1:p.Asn981fs
  • NP_001394776.1:p.Asn981fs
  • NP_001394777.1:p.Asn981fs
  • NP_001394778.1:p.Asn981fs
  • NP_001394779.1:p.Asn982fs
  • NP_001394780.1:p.Asn982fs
  • NP_001394781.1:p.Asn982fs
  • NP_001394782.1:p.Asn958fs
  • NP_001394783.1:p.Asn1029fs
  • NP_001394787.1:p.Asn1029fs
  • NP_001394788.1:p.Asn1029fs
  • NP_001394789.1:p.Asn1028fs
  • NP_001394790.1:p.Asn1028fs
  • NP_001394791.1:p.Asn962fs
  • NP_001394792.1:p.Asn988fs
  • NP_001394803.1:p.Asn961fs
  • NP_001394804.1:p.Asn961fs
  • NP_001394808.1:p.Asn959fs
  • NP_001394810.1:p.Asn959fs
  • NP_001394811.1:p.Asn959fs
  • NP_001394813.1:p.Asn959fs
  • NP_001394814.1:p.Asn959fs
  • NP_001394815.1:p.Asn959fs
  • NP_001394816.1:p.Asn959fs
  • NP_001394818.1:p.Asn959fs
  • NP_001394823.1:p.Asn958fs
  • NP_001394824.1:p.Asn958fs
  • NP_001394825.1:p.Asn958fs
  • NP_001394826.1:p.Asn958fs
  • NP_001394827.1:p.Asn958fs
  • NP_001394828.1:p.Asn958fs
  • NP_001394829.1:p.Asn959fs
  • NP_001394831.1:p.Asn959fs
  • NP_001394833.1:p.Asn959fs
  • NP_001394835.1:p.Asn959fs
  • NP_001394836.1:p.Asn959fs
  • NP_001394837.1:p.Asn959fs
  • NP_001394838.1:p.Asn959fs
  • NP_001394839.1:p.Asn959fs
  • NP_001394844.1:p.Asn958fs
  • NP_001394845.1:p.Asn958fs
  • NP_001394846.1:p.Asn958fs
  • NP_001394847.1:p.Asn958fs
  • NP_001394848.1:p.Asn988fs
  • NP_001394849.1:p.Asn941fs
  • NP_001394850.1:p.Asn941fs
  • NP_001394851.1:p.Asn941fs
  • NP_001394852.1:p.Asn941fs
  • NP_001394853.1:p.Asn941fs
  • NP_001394854.1:p.Asn941fs
  • NP_001394855.1:p.Asn941fs
  • NP_001394856.1:p.Asn941fs
  • NP_001394857.1:p.Asn941fs
  • NP_001394858.1:p.Asn941fs
  • NP_001394859.1:p.Asn940fs
  • NP_001394860.1:p.Asn940fs
  • NP_001394861.1:p.Asn940fs
  • NP_001394862.1:p.Asn941fs
  • NP_001394863.1:p.Asn940fs
  • NP_001394864.1:p.Asn941fs
  • NP_001394865.1:p.Asn940fs
  • NP_001394866.1:p.Asn988fs
  • NP_001394867.1:p.Asn988fs
  • NP_001394868.1:p.Asn988fs
  • NP_001394869.1:p.Asn987fs
  • NP_001394870.1:p.Asn987fs
  • NP_001394871.1:p.Asn982fs
  • NP_001394872.1:p.Asn981fs
  • NP_001394873.1:p.Asn982fs
  • NP_001394874.1:p.Asn982fs
  • NP_001394875.1:p.Asn918fs
  • NP_001394876.1:p.Asn918fs
  • NP_001394877.1:p.Asn918fs
  • NP_001394878.1:p.Asn918fs
  • NP_001394879.1:p.Asn918fs
  • NP_001394880.1:p.Asn918fs
  • NP_001394881.1:p.Asn918fs
  • NP_001394882.1:p.Asn918fs
  • NP_001394883.1:p.Asn917fs
  • NP_001394884.1:p.Asn917fs
  • NP_001394885.1:p.Asn917fs
  • NP_001394886.1:p.Asn918fs
  • NP_001394887.1:p.Asn917fs
  • NP_001394888.1:p.Asn902fs
  • NP_001394889.1:p.Asn902fs
  • NP_001394891.1:p.Asn901fs
  • NP_001394892.1:p.Asn902fs
  • NP_001394893.1:p.Asn981fs
  • NP_001394894.1:p.Asn861fs
  • NP_001394895.1:p.Asn733fs
  • NP_001394896.1:p.Asn733fs
  • NP_009225.1:p.Asn1029Argfs
  • NP_009225.1:p.Asn1029fs
  • NP_009228.2:p.Asn982fs
  • NP_009231.2:p.Asn1029fs
  • LRG_292t1:c.3084_3094del
  • LRG_292:g.125537_125547del
  • LRG_292p1:p.Asn1029Argfs
  • NC_000017.10:g.41244454_41244464del
  • NM_007294.3:c.3084_3094del11
  • NM_007294.3:c.3084_3094delTAATAACATTA
  • NM_007294.3:c.3084_3094delTAATAACATTA
  • NM_007294.4:c.3084_3094del
  • NR_027676.1:n.3220_3230delTAATAACATTA
  • U14680.1:n.3203_3213delTAATAACATTA
  • p.Asn1029Argfs*5
Nucleotide change:
3203del11
Protein change:
N1002fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3203&base_change=del TAATAACATTA; dbSNP: rs80357647
NCBI 1000 Genomes Browser:
rs80357647
Molecular consequence:
  • NM_001407571.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3075_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3075_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3003_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3003_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3003_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3003_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3006_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3081_3091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2883_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2880_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2880_2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2874_2884del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2871_2881del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2817_2827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2817_2827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2817_2827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2817_2827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2820_2830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2817_2827del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2961_2971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2958_2968del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2748_2758del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2748_2758del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2748_2758del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2751_2761del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2748_2758del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2703_2713del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2703_2713del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2700_2710del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2703_2713del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2940_2950del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2580_2590del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2196_2206del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2196_2206del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2943_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3084_3094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-308_788-298del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-308_788-298del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1424_791-1414del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1415_779-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1415_710-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1415_710-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1415_710-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1415_707-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1415_710-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1415_710-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1415_707-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1415_671-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1415_671-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1415_671-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1415_668-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1415_671-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1415_671-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1415_668-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1415_668-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1415_665-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1415_662-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1415_653-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1415_647-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1415_644-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1415_785-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1415_587-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1415_584-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1415_587-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1415_575-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1415_575-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1415_575-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1415_548-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1415_545-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1415_524-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1415_455-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1415_521-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1415_521-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1415_521-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1415_461-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1415_461-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1415_452-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1415_452-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1415_407-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1415_404-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1415_284-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1415_578-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1415_788-1405del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
BRCA1-related disorder
Synonyms:
BRCA1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005359986PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 12, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005359986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.3084_3094del11 variant is predicted to result in a frameshift and premature protein termination (p.Asn1029Argfs*5). In the literature this variant is also referred to as c.3203del11 or c.3084del11. This variant has been reported in individuals with breast and ovarian cancer (Moller et al. 2001. PubMed: 11334729; Moller et al. 2007. PubMed ID: 17574839; Heramb et al. 2018. PubMed ID: 29339979; Janavicius et al. 2010. PubMed ID: 23199084). Of note, this variant has commonly been reported in individuals of Norwegian descent (Moller et al. 2001. PubMed: 11334729; Janavicius et al. 2010. PubMed ID: 23199084; Heramb et al. 2018. PubMed ID: 29339979). This variant has not been reported in a large population database, indicating this variant is rare, and has been reported as pathogenic by multiple laboratories in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/54768/). Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: May 16, 2025