U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
May 19, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000048068.23

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:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000076081Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(May 19, 2023)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000587279Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014)
germlineresearch

SCV000699003Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Dec 2, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers.

Møller P, Hagen AI, Apold J, Maehle L, Clark N, Fiane B, Løvslett K, Hovig E, Vabø A.

Eur J Cancer. 2007 Jul;43(11):1713-7. Epub 2007 Jun 15.

PubMed [citation]
PMID:
17574839

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R.

EPMA J. 2010 Sep;1(3):397-412. doi: 10.1007/s13167-010-0037-y. Epub 2010 Jun 27.

PubMed [citation]
PMID:
23199084
PMCID:
PMC3405339
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076081.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

ClinVar contains an entry for this variant (Variation ID: 54768). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer and triple-negative breast cancer (PMID: 17574839, 23199084, 25452441). It is commonly reported in individuals of Norwegian ancestry (PMID: 17574839, 23199084, 25452441). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1029Argfs*5) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699003.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Variant summary: BRCA1 c.3084_3094del11 (p.Asn1029ArgfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251142 control chromosomes and c.3084_3094del11 has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example: Moller_2001, Judkins_2005, Couch_2015, Grindedal_2017). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven ClinVar submitters have assessed this variant after 2014, including one expert panel and one consortium: all submitters have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Nov 24, 2024