NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Nov 7, 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:: RCV000255873.16

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322082	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 7, 2023)	germline	clinical testing	Citation Link,
SCV000600316	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Sep 8, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17574839, 11720839, 11334729, 26467025
SCV003817993	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005198095	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 18, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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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	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Genetic epidemiology of BRCA1 mutations in Norway.

Møller P, Heimdal K, Apold J, Fredriksen A, Borg A, Hovig E, Hagen A, Hagen B, Pedersen JC, Maehle L; Norwegian Inherited Breast Cancer Group; Norwegian Inherited Ovarian Cancer Group.

Eur J Cancer. 2001 Dec;37(18):2428-34.

PubMed [citation]

PMID:: 11720839

See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000322082.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3203_3213del11; This variant is associated with the following publications: (PMID: 16267036, 23199084, 24312913, 17574839, 11334729, 11720839, 12481264, 25452441, 29339979, 35216584, 34981296)

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600316.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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 Revvity Omics, Revvity, SCV003817993.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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 Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005198095.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine