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 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000076081 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (May 19, 2023) | germline | clinical testing | |
SCV000587279 | Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR) | no assertion criteria provided | Pathogenic (Jan 31, 2014) | germline | research | |
SCV000699003 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Dec 2, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | research |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 17574839
Janavičius R.
EPMA J. 2010 Sep;1(3):397-412. doi: 10.1007/s13167-010-0037-y. Epub 2010 Jun 27.
- PMID:
- 23199084
- PMCID:
- PMC3405339
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076081.12
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587279.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699003.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 24, 2024