NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 24, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001924599.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs)]

NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs)

HGVS:

NC_000017.11:g.43092245_43092248del
NG_005905.2:g.125739_125742del
NG_087068.1:g.1227_1230del
NM_001407571.1:c.3073_3076del
NM_001407581.1:c.3286_3289del
NM_001407582.1:c.3286_3289del
NM_001407583.1:c.3286_3289del
NM_001407585.1:c.3286_3289del
NM_001407587.1:c.3283_3286del
NM_001407590.1:c.3283_3286del
NM_001407591.1:c.3283_3286del
NM_001407593.1:c.3286_3289del
NM_001407594.1:c.3286_3289del
NM_001407596.1:c.3286_3289del
NM_001407597.1:c.3286_3289del
NM_001407598.1:c.3286_3289del
NM_001407602.1:c.3286_3289del
NM_001407603.1:c.3286_3289del
NM_001407605.1:c.3286_3289del
NM_001407610.1:c.3283_3286del
NM_001407611.1:c.3283_3286del
NM_001407612.1:c.3283_3286del
NM_001407613.1:c.3283_3286del
NM_001407614.1:c.3283_3286del
NM_001407615.1:c.3283_3286del
NM_001407616.1:c.3286_3289del
NM_001407617.1:c.3286_3289del
NM_001407618.1:c.3286_3289del
NM_001407619.1:c.3286_3289del
NM_001407620.1:c.3286_3289del
NM_001407621.1:c.3286_3289del
NM_001407622.1:c.3286_3289del
NM_001407623.1:c.3286_3289del
NM_001407624.1:c.3286_3289del
NM_001407625.1:c.3286_3289del
NM_001407626.1:c.3286_3289del
NM_001407627.1:c.3283_3286del
NM_001407628.1:c.3283_3286del
NM_001407629.1:c.3283_3286del
NM_001407630.1:c.3283_3286del
NM_001407631.1:c.3283_3286del
NM_001407632.1:c.3283_3286del
NM_001407633.1:c.3283_3286del
NM_001407634.1:c.3283_3286del
NM_001407635.1:c.3283_3286del
NM_001407636.1:c.3283_3286del
NM_001407637.1:c.3283_3286del
NM_001407638.1:c.3283_3286del
NM_001407639.1:c.3286_3289del
NM_001407640.1:c.3286_3289del
NM_001407641.1:c.3286_3289del
NM_001407642.1:c.3286_3289del
NM_001407644.1:c.3283_3286del
NM_001407645.1:c.3283_3286del
NM_001407646.1:c.3277_3280del
NM_001407647.1:c.3277_3280del
NM_001407648.1:c.3163_3166del
NM_001407649.1:c.3160_3163del
NM_001407652.1:c.3286_3289del
NM_001407653.1:c.3208_3211del
NM_001407654.1:c.3208_3211del
NM_001407655.1:c.3208_3211del
NM_001407656.1:c.3208_3211del
NM_001407657.1:c.3208_3211del
NM_001407658.1:c.3208_3211del
NM_001407659.1:c.3205_3208del
NM_001407660.1:c.3205_3208del
NM_001407661.1:c.3205_3208del
NM_001407662.1:c.3205_3208del
NM_001407663.1:c.3208_3211del
NM_001407664.1:c.3163_3166del
NM_001407665.1:c.3163_3166del
NM_001407666.1:c.3163_3166del
NM_001407667.1:c.3163_3166del
NM_001407668.1:c.3163_3166del
NM_001407669.1:c.3163_3166del
NM_001407670.1:c.3160_3163del
NM_001407671.1:c.3160_3163del
NM_001407672.1:c.3160_3163del
NM_001407673.1:c.3160_3163del
NM_001407674.1:c.3163_3166del
NM_001407675.1:c.3163_3166del
NM_001407676.1:c.3163_3166del
NM_001407677.1:c.3163_3166del
NM_001407678.1:c.3163_3166del
NM_001407679.1:c.3163_3166del
NM_001407680.1:c.3163_3166del
NM_001407681.1:c.3163_3166del
NM_001407682.1:c.3163_3166del
NM_001407683.1:c.3163_3166del
NM_001407684.1:c.3286_3289del
NM_001407685.1:c.3160_3163del
NM_001407686.1:c.3160_3163del
NM_001407687.1:c.3160_3163del
NM_001407688.1:c.3160_3163del
NM_001407689.1:c.3160_3163del
NM_001407690.1:c.3160_3163del
NM_001407691.1:c.3160_3163del
NM_001407692.1:c.3145_3148del
NM_001407694.1:c.3145_3148del
NM_001407695.1:c.3145_3148del
NM_001407696.1:c.3145_3148del
NM_001407697.1:c.3145_3148del
NM_001407698.1:c.3145_3148del
NM_001407724.1:c.3145_3148del
NM_001407725.1:c.3145_3148del
NM_001407726.1:c.3145_3148del
NM_001407727.1:c.3145_3148del
NM_001407728.1:c.3145_3148del
NM_001407729.1:c.3145_3148del
NM_001407730.1:c.3145_3148del
NM_001407731.1:c.3145_3148del
NM_001407732.1:c.3145_3148del
NM_001407733.1:c.3145_3148del
NM_001407734.1:c.3145_3148del
NM_001407735.1:c.3145_3148del
NM_001407736.1:c.3145_3148del
NM_001407737.1:c.3145_3148del
NM_001407738.1:c.3145_3148del
NM_001407739.1:c.3145_3148del
NM_001407740.1:c.3142_3145del
NM_001407741.1:c.3142_3145del
NM_001407742.1:c.3142_3145del
NM_001407743.1:c.3142_3145del
NM_001407744.1:c.3142_3145del
NM_001407745.1:c.3142_3145del
NM_001407746.1:c.3142_3145del
NM_001407747.1:c.3142_3145del
NM_001407748.1:c.3142_3145del
NM_001407749.1:c.3142_3145del
NM_001407750.1:c.3145_3148del
NM_001407751.1:c.3145_3148del
NM_001407752.1:c.3145_3148del
NM_001407838.1:c.3142_3145del
NM_001407839.1:c.3142_3145del
NM_001407841.1:c.3142_3145del
NM_001407842.1:c.3142_3145del
NM_001407843.1:c.3142_3145del
NM_001407844.1:c.3142_3145del
NM_001407845.1:c.3142_3145del
NM_001407846.1:c.3142_3145del
NM_001407847.1:c.3142_3145del
NM_001407848.1:c.3142_3145del
NM_001407849.1:c.3142_3145del
NM_001407850.1:c.3145_3148del
NM_001407851.1:c.3145_3148del
NM_001407852.1:c.3145_3148del
NM_001407853.1:c.3073_3076del
NM_001407854.1:c.3286_3289del
NM_001407858.1:c.3286_3289del
NM_001407859.1:c.3286_3289del
NM_001407860.1:c.3283_3286del
NM_001407861.1:c.3283_3286del
NM_001407862.1:c.3085_3088del
NM_001407863.1:c.3163_3166del
NM_001407874.1:c.3082_3085del
NM_001407875.1:c.3082_3085del
NM_001407879.1:c.3076_3079del
NM_001407881.1:c.3076_3079del
NM_001407882.1:c.3076_3079del
NM_001407884.1:c.3076_3079del
NM_001407885.1:c.3076_3079del
NM_001407886.1:c.3076_3079del
NM_001407887.1:c.3076_3079del
NM_001407889.1:c.3076_3079del
NM_001407894.1:c.3073_3076del
NM_001407895.1:c.3073_3076del
NM_001407896.1:c.3073_3076del
NM_001407897.1:c.3073_3076del
NM_001407898.1:c.3073_3076del
NM_001407899.1:c.3073_3076del
NM_001407900.1:c.3076_3079del
NM_001407902.1:c.3076_3079del
NM_001407904.1:c.3076_3079del
NM_001407906.1:c.3076_3079del
NM_001407907.1:c.3076_3079del
NM_001407908.1:c.3076_3079del
NM_001407909.1:c.3076_3079del
NM_001407910.1:c.3076_3079del
NM_001407915.1:c.3073_3076del
NM_001407916.1:c.3073_3076del
NM_001407917.1:c.3073_3076del
NM_001407918.1:c.3073_3076del
NM_001407919.1:c.3163_3166del
NM_001407920.1:c.3022_3025del
NM_001407921.1:c.3022_3025del
NM_001407922.1:c.3022_3025del
NM_001407923.1:c.3022_3025del
NM_001407924.1:c.3022_3025del
NM_001407925.1:c.3022_3025del
NM_001407926.1:c.3022_3025del
NM_001407927.1:c.3022_3025del
NM_001407928.1:c.3022_3025del
NM_001407929.1:c.3022_3025del
NM_001407930.1:c.3019_3022del
NM_001407931.1:c.3019_3022del
NM_001407932.1:c.3019_3022del
NM_001407933.1:c.3022_3025del
NM_001407934.1:c.3019_3022del
NM_001407935.1:c.3022_3025del
NM_001407936.1:c.3019_3022del
NM_001407937.1:c.3163_3166del
NM_001407938.1:c.3163_3166del
NM_001407939.1:c.3163_3166del
NM_001407940.1:c.3160_3163del
NM_001407941.1:c.3160_3163del
NM_001407942.1:c.3145_3148del
NM_001407943.1:c.3142_3145del
NM_001407944.1:c.3145_3148del
NM_001407945.1:c.3145_3148del
NM_001407946.1:c.2953_2956del
NM_001407947.1:c.2953_2956del
NM_001407948.1:c.2953_2956del
NM_001407949.1:c.2953_2956del
NM_001407950.1:c.2953_2956del
NM_001407951.1:c.2953_2956del
NM_001407952.1:c.2953_2956del
NM_001407953.1:c.2953_2956del
NM_001407954.1:c.2950_2953del
NM_001407955.1:c.2950_2953del
NM_001407956.1:c.2950_2953del
NM_001407957.1:c.2953_2956del
NM_001407958.1:c.2950_2953del
NM_001407959.1:c.2905_2908del
NM_001407960.1:c.2905_2908del
NM_001407962.1:c.2902_2905del
NM_001407963.1:c.2905_2908del
NM_001407964.1:c.3142_3145del
NM_001407965.1:c.2782_2785del
NM_001407966.1:c.2398_2401del
NM_001407967.1:c.2398_2401del
NM_001407968.1:c.788-106_788-103del
NM_001407969.1:c.788-106_788-103del
NM_001407970.1:c.788-1213_788-1210del
NM_001407971.1:c.788-1213_788-1210del
NM_001407972.1:c.785-1213_785-1210del
NM_001407973.1:c.788-1213_788-1210del
NM_001407974.1:c.788-1213_788-1210del
NM_001407975.1:c.788-1213_788-1210del
NM_001407976.1:c.788-1213_788-1210del
NM_001407977.1:c.788-1213_788-1210del
NM_001407978.1:c.788-1213_788-1210del
NM_001407979.1:c.788-1213_788-1210del
NM_001407980.1:c.788-1213_788-1210del
NM_001407981.1:c.788-1213_788-1210del
NM_001407982.1:c.788-1213_788-1210del
NM_001407983.1:c.788-1213_788-1210del
NM_001407984.1:c.785-1213_785-1210del
NM_001407985.1:c.785-1213_785-1210del
NM_001407986.1:c.785-1213_785-1210del
NM_001407990.1:c.788-1213_788-1210del
NM_001407991.1:c.785-1213_785-1210del
NM_001407992.1:c.785-1213_785-1210del
NM_001407993.1:c.788-1213_788-1210del
NM_001408392.1:c.785-1213_785-1210del
NM_001408396.1:c.785-1213_785-1210del
NM_001408397.1:c.785-1213_785-1210del
NM_001408398.1:c.785-1213_785-1210del
NM_001408399.1:c.785-1213_785-1210del
NM_001408400.1:c.785-1213_785-1210del
NM_001408401.1:c.785-1213_785-1210del
NM_001408402.1:c.785-1213_785-1210del
NM_001408403.1:c.788-1213_788-1210del
NM_001408404.1:c.788-1213_788-1210del
NM_001408406.1:c.791-1222_791-1219del
NM_001408407.1:c.785-1213_785-1210del
NM_001408408.1:c.779-1213_779-1210del
NM_001408409.1:c.710-1213_710-1210del
NM_001408410.1:c.647-1213_647-1210del
NM_001408411.1:c.710-1213_710-1210del
NM_001408412.1:c.710-1213_710-1210del
NM_001408413.1:c.707-1213_707-1210del
NM_001408414.1:c.710-1213_710-1210del
NM_001408415.1:c.710-1213_710-1210del
NM_001408416.1:c.707-1213_707-1210del
NM_001408418.1:c.671-1213_671-1210del
NM_001408419.1:c.671-1213_671-1210del
NM_001408420.1:c.671-1213_671-1210del
NM_001408421.1:c.668-1213_668-1210del
NM_001408422.1:c.671-1213_671-1210del
NM_001408423.1:c.671-1213_671-1210del
NM_001408424.1:c.668-1213_668-1210del
NM_001408425.1:c.665-1213_665-1210del
NM_001408426.1:c.665-1213_665-1210del
NM_001408427.1:c.665-1213_665-1210del
NM_001408428.1:c.665-1213_665-1210del
NM_001408429.1:c.665-1213_665-1210del
NM_001408430.1:c.665-1213_665-1210del
NM_001408431.1:c.668-1213_668-1210del
NM_001408432.1:c.662-1213_662-1210del
NM_001408433.1:c.662-1213_662-1210del
NM_001408434.1:c.662-1213_662-1210del
NM_001408435.1:c.662-1213_662-1210del
NM_001408436.1:c.665-1213_665-1210del
NM_001408437.1:c.665-1213_665-1210del
NM_001408438.1:c.665-1213_665-1210del
NM_001408439.1:c.665-1213_665-1210del
NM_001408440.1:c.665-1213_665-1210del
NM_001408441.1:c.665-1213_665-1210del
NM_001408442.1:c.665-1213_665-1210del
NM_001408443.1:c.665-1213_665-1210del
NM_001408444.1:c.665-1213_665-1210del
NM_001408445.1:c.662-1213_662-1210del
NM_001408446.1:c.662-1213_662-1210del
NM_001408447.1:c.662-1213_662-1210del
NM_001408448.1:c.662-1213_662-1210del
NM_001408450.1:c.662-1213_662-1210del
NM_001408451.1:c.653-1213_653-1210del
NM_001408452.1:c.647-1213_647-1210del
NM_001408453.1:c.647-1213_647-1210del
NM_001408454.1:c.647-1213_647-1210del
NM_001408455.1:c.647-1213_647-1210del
NM_001408456.1:c.647-1213_647-1210del
NM_001408457.1:c.647-1213_647-1210del
NM_001408458.1:c.647-1213_647-1210del
NM_001408459.1:c.647-1213_647-1210del
NM_001408460.1:c.647-1213_647-1210del
NM_001408461.1:c.647-1213_647-1210del
NM_001408462.1:c.644-1213_644-1210del
NM_001408463.1:c.644-1213_644-1210del
NM_001408464.1:c.644-1213_644-1210del
NM_001408465.1:c.644-1213_644-1210del
NM_001408466.1:c.647-1213_647-1210del
NM_001408467.1:c.647-1213_647-1210del
NM_001408468.1:c.644-1213_644-1210del
NM_001408469.1:c.647-1213_647-1210del
NM_001408470.1:c.644-1213_644-1210del
NM_001408472.1:c.788-1213_788-1210del
NM_001408473.1:c.785-1213_785-1210del
NM_001408474.1:c.587-1213_587-1210del
NM_001408475.1:c.584-1213_584-1210del
NM_001408476.1:c.587-1213_587-1210del
NM_001408478.1:c.578-1213_578-1210del
NM_001408479.1:c.578-1213_578-1210del
NM_001408480.1:c.578-1213_578-1210del
NM_001408481.1:c.578-1213_578-1210del
NM_001408482.1:c.578-1213_578-1210del
NM_001408483.1:c.578-1213_578-1210del
NM_001408484.1:c.578-1213_578-1210del
NM_001408485.1:c.578-1213_578-1210del
NM_001408489.1:c.578-1213_578-1210del
NM_001408490.1:c.575-1213_575-1210del
NM_001408491.1:c.575-1213_575-1210del
NM_001408492.1:c.578-1213_578-1210del
NM_001408493.1:c.575-1213_575-1210del
NM_001408494.1:c.548-1213_548-1210del
NM_001408495.1:c.545-1213_545-1210del
NM_001408496.1:c.524-1213_524-1210del
NM_001408497.1:c.524-1213_524-1210del
NM_001408498.1:c.524-1213_524-1210del
NM_001408499.1:c.524-1213_524-1210del
NM_001408500.1:c.524-1213_524-1210del
NM_001408501.1:c.524-1213_524-1210del
NM_001408502.1:c.455-1213_455-1210del
NM_001408503.1:c.521-1213_521-1210del
NM_001408504.1:c.521-1213_521-1210del
NM_001408505.1:c.521-1213_521-1210del
NM_001408506.1:c.461-1213_461-1210del
NM_001408507.1:c.461-1213_461-1210del
NM_001408508.1:c.452-1213_452-1210del
NM_001408509.1:c.452-1213_452-1210del
NM_001408510.1:c.407-1213_407-1210del
NM_001408511.1:c.404-1213_404-1210del
NM_001408512.1:c.284-1213_284-1210del
NM_001408513.1:c.578-1213_578-1210del
NM_001408514.1:c.578-1213_578-1210del
NM_007294.4:c.3286_3289delMANE SELECT
NM_007297.4:c.3145_3148del
NM_007298.4:c.788-1213_788-1210del
NM_007299.4:c.788-1213_788-1210del
NM_007300.4:c.3286_3289del
NP_001394500.1:p.Gln1025fs
NP_001394510.1:p.Gln1096fs
NP_001394511.1:p.Gln1096fs
NP_001394512.1:p.Gln1096fs
NP_001394514.1:p.Gln1096fs
NP_001394516.1:p.Gln1095fs
NP_001394519.1:p.Gln1095fs
NP_001394520.1:p.Gln1095fs
NP_001394522.1:p.Gln1096fs
NP_001394523.1:p.Gln1096fs
NP_001394525.1:p.Gln1096fs
NP_001394526.1:p.Gln1096fs
NP_001394527.1:p.Gln1096fs
NP_001394531.1:p.Gln1096fs
NP_001394532.1:p.Gln1096fs
NP_001394534.1:p.Gln1096fs
NP_001394539.1:p.Gln1095fs
NP_001394540.1:p.Gln1095fs
NP_001394541.1:p.Gln1095fs
NP_001394542.1:p.Gln1095fs
NP_001394543.1:p.Gln1095fs
NP_001394544.1:p.Gln1095fs
NP_001394545.1:p.Gln1096fs
NP_001394546.1:p.Gln1096fs
NP_001394547.1:p.Gln1096fs
NP_001394548.1:p.Gln1096fs
NP_001394549.1:p.Gln1096fs
NP_001394550.1:p.Gln1096fs
NP_001394551.1:p.Gln1096fs
NP_001394552.1:p.Gln1096fs
NP_001394553.1:p.Gln1096fs
NP_001394554.1:p.Gln1096fs
NP_001394555.1:p.Gln1096fs
NP_001394556.1:p.Gln1095fs
NP_001394557.1:p.Gln1095fs
NP_001394558.1:p.Gln1095fs
NP_001394559.1:p.Gln1095fs
NP_001394560.1:p.Gln1095fs
NP_001394561.1:p.Gln1095fs
NP_001394562.1:p.Gln1095fs
NP_001394563.1:p.Gln1095fs
NP_001394564.1:p.Gln1095fs
NP_001394565.1:p.Gln1095fs
NP_001394566.1:p.Gln1095fs
NP_001394567.1:p.Gln1095fs
NP_001394568.1:p.Gln1096fs
NP_001394569.1:p.Gln1096fs
NP_001394570.1:p.Gln1096fs
NP_001394571.1:p.Gln1096fs
NP_001394573.1:p.Gln1095fs
NP_001394574.1:p.Gln1095fs
NP_001394575.1:p.Gln1093fs
NP_001394576.1:p.Gln1093fs
NP_001394577.1:p.Gln1055fs
NP_001394578.1:p.Gln1054fs
NP_001394581.1:p.Gln1096fs
NP_001394582.1:p.Gln1070fs
NP_001394583.1:p.Gln1070fs
NP_001394584.1:p.Gln1070fs
NP_001394585.1:p.Gln1070fs
NP_001394586.1:p.Gln1070fs
NP_001394587.1:p.Gln1070fs
NP_001394588.1:p.Gln1069fs
NP_001394589.1:p.Gln1069fs
NP_001394590.1:p.Gln1069fs
NP_001394591.1:p.Gln1069fs
NP_001394592.1:p.Gln1070fs
NP_001394593.1:p.Gln1055fs
NP_001394594.1:p.Gln1055fs
NP_001394595.1:p.Gln1055fs
NP_001394596.1:p.Gln1055fs
NP_001394597.1:p.Gln1055fs
NP_001394598.1:p.Gln1055fs
NP_001394599.1:p.Gln1054fs
NP_001394600.1:p.Gln1054fs
NP_001394601.1:p.Gln1054fs
NP_001394602.1:p.Gln1054fs
NP_001394603.1:p.Gln1055fs
NP_001394604.1:p.Gln1055fs
NP_001394605.1:p.Gln1055fs
NP_001394606.1:p.Gln1055fs
NP_001394607.1:p.Gln1055fs
NP_001394608.1:p.Gln1055fs
NP_001394609.1:p.Gln1055fs
NP_001394610.1:p.Gln1055fs
NP_001394611.1:p.Gln1055fs
NP_001394612.1:p.Gln1055fs
NP_001394613.1:p.Gln1096fs
NP_001394614.1:p.Gln1054fs
NP_001394615.1:p.Gln1054fs
NP_001394616.1:p.Gln1054fs
NP_001394617.1:p.Gln1054fs
NP_001394618.1:p.Gln1054fs
NP_001394619.1:p.Gln1054fs
NP_001394620.1:p.Gln1054fs
NP_001394621.1:p.Gln1049fs
NP_001394623.1:p.Gln1049fs
NP_001394624.1:p.Gln1049fs
NP_001394625.1:p.Gln1049fs
NP_001394626.1:p.Gln1049fs
NP_001394627.1:p.Gln1049fs
NP_001394653.1:p.Gln1049fs
NP_001394654.1:p.Gln1049fs
NP_001394655.1:p.Gln1049fs
NP_001394656.1:p.Gln1049fs
NP_001394657.1:p.Gln1049fs
NP_001394658.1:p.Gln1049fs
NP_001394659.1:p.Gln1049fs
NP_001394660.1:p.Gln1049fs
NP_001394661.1:p.Gln1049fs
NP_001394662.1:p.Gln1049fs
NP_001394663.1:p.Gln1049fs
NP_001394664.1:p.Gln1049fs
NP_001394665.1:p.Gln1049fs
NP_001394666.1:p.Gln1049fs
NP_001394667.1:p.Gln1049fs
NP_001394668.1:p.Gln1049fs
NP_001394669.1:p.Gln1048fs
NP_001394670.1:p.Gln1048fs
NP_001394671.1:p.Gln1048fs
NP_001394672.1:p.Gln1048fs
NP_001394673.1:p.Gln1048fs
NP_001394674.1:p.Gln1048fs
NP_001394675.1:p.Gln1048fs
NP_001394676.1:p.Gln1048fs
NP_001394677.1:p.Gln1048fs
NP_001394678.1:p.Gln1048fs
NP_001394679.1:p.Gln1049fs
NP_001394680.1:p.Gln1049fs
NP_001394681.1:p.Gln1049fs
NP_001394767.1:p.Gln1048fs
NP_001394768.1:p.Gln1048fs
NP_001394770.1:p.Gln1048fs
NP_001394771.1:p.Gln1048fs
NP_001394772.1:p.Gln1048fs
NP_001394773.1:p.Gln1048fs
NP_001394774.1:p.Gln1048fs
NP_001394775.1:p.Gln1048fs
NP_001394776.1:p.Gln1048fs
NP_001394777.1:p.Gln1048fs
NP_001394778.1:p.Gln1048fs
NP_001394779.1:p.Gln1049fs
NP_001394780.1:p.Gln1049fs
NP_001394781.1:p.Gln1049fs
NP_001394782.1:p.Gln1025fs
NP_001394783.1:p.Gln1096fs
NP_001394787.1:p.Gln1096fs
NP_001394788.1:p.Gln1096fs
NP_001394789.1:p.Gln1095fs
NP_001394790.1:p.Gln1095fs
NP_001394791.1:p.Gln1029fs
NP_001394792.1:p.Gln1055fs
NP_001394803.1:p.Gln1028fs
NP_001394804.1:p.Gln1028fs
NP_001394808.1:p.Gln1026fs
NP_001394810.1:p.Gln1026fs
NP_001394811.1:p.Gln1026fs
NP_001394813.1:p.Gln1026fs
NP_001394814.1:p.Gln1026fs
NP_001394815.1:p.Gln1026fs
NP_001394816.1:p.Gln1026fs
NP_001394818.1:p.Gln1026fs
NP_001394823.1:p.Gln1025fs
NP_001394824.1:p.Gln1025fs
NP_001394825.1:p.Gln1025fs
NP_001394826.1:p.Gln1025fs
NP_001394827.1:p.Gln1025fs
NP_001394828.1:p.Gln1025fs
NP_001394829.1:p.Gln1026fs
NP_001394831.1:p.Gln1026fs
NP_001394833.1:p.Gln1026fs
NP_001394835.1:p.Gln1026fs
NP_001394836.1:p.Gln1026fs
NP_001394837.1:p.Gln1026fs
NP_001394838.1:p.Gln1026fs
NP_001394839.1:p.Gln1026fs
NP_001394844.1:p.Gln1025fs
NP_001394845.1:p.Gln1025fs
NP_001394846.1:p.Gln1025fs
NP_001394847.1:p.Gln1025fs
NP_001394848.1:p.Gln1055fs
NP_001394849.1:p.Gln1008fs
NP_001394850.1:p.Gln1008fs
NP_001394851.1:p.Gln1008fs
NP_001394852.1:p.Gln1008fs
NP_001394853.1:p.Gln1008fs
NP_001394854.1:p.Gln1008fs
NP_001394855.1:p.Gln1008fs
NP_001394856.1:p.Gln1008fs
NP_001394857.1:p.Gln1008fs
NP_001394858.1:p.Gln1008fs
NP_001394859.1:p.Gln1007fs
NP_001394860.1:p.Gln1007fs
NP_001394861.1:p.Gln1007fs
NP_001394862.1:p.Gln1008fs
NP_001394863.1:p.Gln1007fs
NP_001394864.1:p.Gln1008fs
NP_001394865.1:p.Gln1007fs
NP_001394866.1:p.Gln1055fs
NP_001394867.1:p.Gln1055fs
NP_001394868.1:p.Gln1055fs
NP_001394869.1:p.Gln1054fs
NP_001394870.1:p.Gln1054fs
NP_001394871.1:p.Gln1049fs
NP_001394872.1:p.Gln1048fs
NP_001394873.1:p.Gln1049fs
NP_001394874.1:p.Gln1049fs
NP_001394875.1:p.Gln985fs
NP_001394876.1:p.Gln985fs
NP_001394877.1:p.Gln985fs
NP_001394878.1:p.Gln985fs
NP_001394879.1:p.Gln985fs
NP_001394880.1:p.Gln985fs
NP_001394881.1:p.Gln985fs
NP_001394882.1:p.Gln985fs
NP_001394883.1:p.Gln984fs
NP_001394884.1:p.Gln984fs
NP_001394885.1:p.Gln984fs
NP_001394886.1:p.Gln985fs
NP_001394887.1:p.Gln984fs
NP_001394888.1:p.Gln969fs
NP_001394889.1:p.Gln969fs
NP_001394891.1:p.Gln968fs
NP_001394892.1:p.Gln969fs
NP_001394893.1:p.Gln1048fs
NP_001394894.1:p.Gln928fs
NP_001394895.1:p.Gln800fs
NP_001394896.1:p.Gln800fs
NP_009225.1:p.Gln1096Valfs
NP_009225.1:p.Gln1096fs
NP_009228.2:p.Gln1049fs
NP_009231.2:p.Gln1096fs
LRG_292t1:c.3283_3286del
LRG_292:g.125739_125742del
LRG_292p1:p.Gln1096Valfs
NC_000017.10:g.41244259_41244262del
NC_000017.10:g.41244262_41244265del
NM_007294.3:c.3283_3286delAAAC
NM_007294.3:c.3286_3289delCAAA
NR_027676.1:n.3419_3422delAAAC

Protein change:

Q1007fs

Links:

dbSNP: rs2154331547

NCBI 1000 Genomes Browser:

rs2154331547

Molecular consequence:

NM_001407571.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3277_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3277_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3205_3208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3205_3208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3205_3208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3205_3208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3208_3211del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3283_3286del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3085_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3082_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3082_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3076_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3073_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3019_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3019_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3019_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3019_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3022_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3019_3022del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3163_3166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3160_3163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2953_2956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2905_2908del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2905_2908del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2902_2905del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2905_2908del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3142_3145del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2782_2785del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2398_2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2398_2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3145_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3286_3289del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-106_788-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-106_788-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1222_791-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1213_779-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1213_710-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1213_710-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1213_710-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1213_707-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1213_710-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1213_710-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1213_707-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1213_671-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1213_671-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1213_671-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1213_668-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1213_671-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1213_671-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1213_668-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1213_668-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1213_665-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1213_662-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1213_653-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1213_647-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1213_644-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1213_785-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1213_587-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1213_584-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1213_587-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1213_575-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1213_575-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1213_575-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1213_548-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1213_545-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1213_524-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1213_455-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1213_521-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1213_521-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1213_521-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1213_461-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1213_461-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1213_452-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1213_452-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1213_407-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1213_404-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1213_284-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1213_578-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1213_788-1210del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1213_788-1210del - 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

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Prunus toriwii (40)
Books
Real-time quantitative PCR analysis of gene expression in human colon cancer cel...
Real-time quantitative PCR analysis of gene expression in human colon cancer cells treated with LPS
Real-time quantitative PCR analysis of gene expression in human colon cancer cells treated with LPS

BioProject
PREDICTED: Tympanuchus pallidicinctus heparan sulfate-glucosamine 3-sulfotransfe...
PREDICTED: Tympanuchus pallidicinctus heparan sulfate-glucosamine 3-sulfotransferase 5 (HS3ST5), transcript variant X3, mRNA
gi|2413372307|ref|XM_052683488.1|

Nucleotide
IL12RWT_HPOS_D2_003
IL12RWT_HPOS_D2_003

biosample
troponin T, fast skeletal muscle isoform X7 [Homo sapiens]
troponin T, fast skeletal muscle isoform X7 [Homo sapiens]
gi|2462497650|ref|XP_054188428.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002152285	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 24, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002152285

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 24, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002152285.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1383435). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1096Valfs*12) 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).

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine