NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 8, 2024
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:: RCV000235794.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)]

NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)

HGVS:

NC_000017.11:g.43092338dup
NG_005905.2:g.125646dup
NG_087068.1:g.1320dup
NM_001407571.1:c.2980dup
NM_001407581.1:c.3193dup
NM_001407582.1:c.3193dup
NM_001407583.1:c.3193dup
NM_001407585.1:c.3193dup
NM_001407587.1:c.3190dup
NM_001407590.1:c.3190dup
NM_001407591.1:c.3190dup
NM_001407593.1:c.3193dup
NM_001407594.1:c.3193dup
NM_001407596.1:c.3193dup
NM_001407597.1:c.3193dup
NM_001407598.1:c.3193dup
NM_001407602.1:c.3193dup
NM_001407603.1:c.3193dup
NM_001407605.1:c.3193dup
NM_001407610.1:c.3190dup
NM_001407611.1:c.3190dup
NM_001407612.1:c.3190dup
NM_001407613.1:c.3190dup
NM_001407614.1:c.3190dup
NM_001407615.1:c.3190dup
NM_001407616.1:c.3193dup
NM_001407617.1:c.3193dup
NM_001407618.1:c.3193dup
NM_001407619.1:c.3193dup
NM_001407620.1:c.3193dup
NM_001407621.1:c.3193dup
NM_001407622.1:c.3193dup
NM_001407623.1:c.3193dup
NM_001407624.1:c.3193dup
NM_001407625.1:c.3193dup
NM_001407626.1:c.3193dup
NM_001407627.1:c.3190dup
NM_001407628.1:c.3190dup
NM_001407629.1:c.3190dup
NM_001407630.1:c.3190dup
NM_001407631.1:c.3190dup
NM_001407632.1:c.3190dup
NM_001407633.1:c.3190dup
NM_001407634.1:c.3190dup
NM_001407635.1:c.3190dup
NM_001407636.1:c.3190dup
NM_001407637.1:c.3190dup
NM_001407638.1:c.3190dup
NM_001407639.1:c.3193dup
NM_001407640.1:c.3193dup
NM_001407641.1:c.3193dup
NM_001407642.1:c.3193dup
NM_001407644.1:c.3190dup
NM_001407645.1:c.3190dup
NM_001407646.1:c.3184dup
NM_001407647.1:c.3184dup
NM_001407648.1:c.3070dup
NM_001407649.1:c.3067dup
NM_001407652.1:c.3193dup
NM_001407653.1:c.3115dup
NM_001407654.1:c.3115dup
NM_001407655.1:c.3115dup
NM_001407656.1:c.3115dup
NM_001407657.1:c.3115dup
NM_001407658.1:c.3115dup
NM_001407659.1:c.3112dup
NM_001407660.1:c.3112dup
NM_001407661.1:c.3112dup
NM_001407662.1:c.3112dup
NM_001407663.1:c.3115dup
NM_001407664.1:c.3070dup
NM_001407665.1:c.3070dup
NM_001407666.1:c.3070dup
NM_001407667.1:c.3070dup
NM_001407668.1:c.3070dup
NM_001407669.1:c.3070dup
NM_001407670.1:c.3067dup
NM_001407671.1:c.3067dup
NM_001407672.1:c.3067dup
NM_001407673.1:c.3067dup
NM_001407674.1:c.3070dup
NM_001407675.1:c.3070dup
NM_001407676.1:c.3070dup
NM_001407677.1:c.3070dup
NM_001407678.1:c.3070dup
NM_001407679.1:c.3070dup
NM_001407680.1:c.3070dup
NM_001407681.1:c.3070dup
NM_001407682.1:c.3070dup
NM_001407683.1:c.3070dup
NM_001407684.1:c.3193dup
NM_001407685.1:c.3067dup
NM_001407686.1:c.3067dup
NM_001407687.1:c.3067dup
NM_001407688.1:c.3067dup
NM_001407689.1:c.3067dup
NM_001407690.1:c.3067dup
NM_001407691.1:c.3067dup
NM_001407692.1:c.3052dup
NM_001407694.1:c.3052dup
NM_001407695.1:c.3052dup
NM_001407696.1:c.3052dup
NM_001407697.1:c.3052dup
NM_001407698.1:c.3052dup
NM_001407724.1:c.3052dup
NM_001407725.1:c.3052dup
NM_001407726.1:c.3052dup
NM_001407727.1:c.3052dup
NM_001407728.1:c.3052dup
NM_001407729.1:c.3052dup
NM_001407730.1:c.3052dup
NM_001407731.1:c.3052dup
NM_001407732.1:c.3052dup
NM_001407733.1:c.3052dup
NM_001407734.1:c.3052dup
NM_001407735.1:c.3052dup
NM_001407736.1:c.3052dup
NM_001407737.1:c.3052dup
NM_001407738.1:c.3052dup
NM_001407739.1:c.3052dup
NM_001407740.1:c.3049dup
NM_001407741.1:c.3049dup
NM_001407742.1:c.3049dup
NM_001407743.1:c.3049dup
NM_001407744.1:c.3049dup
NM_001407745.1:c.3049dup
NM_001407746.1:c.3049dup
NM_001407747.1:c.3049dup
NM_001407748.1:c.3049dup
NM_001407749.1:c.3049dup
NM_001407750.1:c.3052dup
NM_001407751.1:c.3052dup
NM_001407752.1:c.3052dup
NM_001407838.1:c.3049dup
NM_001407839.1:c.3049dup
NM_001407841.1:c.3049dup
NM_001407842.1:c.3049dup
NM_001407843.1:c.3049dup
NM_001407844.1:c.3049dup
NM_001407845.1:c.3049dup
NM_001407846.1:c.3049dup
NM_001407847.1:c.3049dup
NM_001407848.1:c.3049dup
NM_001407849.1:c.3049dup
NM_001407850.1:c.3052dup
NM_001407851.1:c.3052dup
NM_001407852.1:c.3052dup
NM_001407853.1:c.2980dup
NM_001407854.1:c.3193dup
NM_001407858.1:c.3193dup
NM_001407859.1:c.3193dup
NM_001407860.1:c.3190dup
NM_001407861.1:c.3190dup
NM_001407862.1:c.2992dup
NM_001407863.1:c.3070dup
NM_001407874.1:c.2989dup
NM_001407875.1:c.2989dup
NM_001407879.1:c.2983dup
NM_001407881.1:c.2983dup
NM_001407882.1:c.2983dup
NM_001407884.1:c.2983dup
NM_001407885.1:c.2983dup
NM_001407886.1:c.2983dup
NM_001407887.1:c.2983dup
NM_001407889.1:c.2983dup
NM_001407894.1:c.2980dup
NM_001407895.1:c.2980dup
NM_001407896.1:c.2980dup
NM_001407897.1:c.2980dup
NM_001407898.1:c.2980dup
NM_001407899.1:c.2980dup
NM_001407900.1:c.2983dup
NM_001407902.1:c.2983dup
NM_001407904.1:c.2983dup
NM_001407906.1:c.2983dup
NM_001407907.1:c.2983dup
NM_001407908.1:c.2983dup
NM_001407909.1:c.2983dup
NM_001407910.1:c.2983dup
NM_001407915.1:c.2980dup
NM_001407916.1:c.2980dup
NM_001407917.1:c.2980dup
NM_001407918.1:c.2980dup
NM_001407919.1:c.3070dup
NM_001407920.1:c.2929dup
NM_001407921.1:c.2929dup
NM_001407922.1:c.2929dup
NM_001407923.1:c.2929dup
NM_001407924.1:c.2929dup
NM_001407925.1:c.2929dup
NM_001407926.1:c.2929dup
NM_001407927.1:c.2929dup
NM_001407928.1:c.2929dup
NM_001407929.1:c.2929dup
NM_001407930.1:c.2926dup
NM_001407931.1:c.2926dup
NM_001407932.1:c.2926dup
NM_001407933.1:c.2929dup
NM_001407934.1:c.2926dup
NM_001407935.1:c.2929dup
NM_001407936.1:c.2926dup
NM_001407937.1:c.3070dup
NM_001407938.1:c.3070dup
NM_001407939.1:c.3070dup
NM_001407940.1:c.3067dup
NM_001407941.1:c.3067dup
NM_001407942.1:c.3052dup
NM_001407943.1:c.3049dup
NM_001407944.1:c.3052dup
NM_001407945.1:c.3052dup
NM_001407946.1:c.2860dup
NM_001407947.1:c.2860dup
NM_001407948.1:c.2860dup
NM_001407949.1:c.2860dup
NM_001407950.1:c.2860dup
NM_001407951.1:c.2860dup
NM_001407952.1:c.2860dup
NM_001407953.1:c.2860dup
NM_001407954.1:c.2857dup
NM_001407955.1:c.2857dup
NM_001407956.1:c.2857dup
NM_001407957.1:c.2860dup
NM_001407958.1:c.2857dup
NM_001407959.1:c.2812dup
NM_001407960.1:c.2812dup
NM_001407962.1:c.2809dup
NM_001407963.1:c.2812dup
NM_001407964.1:c.3049dup
NM_001407965.1:c.2689dup
NM_001407966.1:c.2305dup
NM_001407967.1:c.2305dup
NM_001407968.1:c.788-199dup
NM_001407969.1:c.788-199dup
NM_001407970.1:c.788-1306dup
NM_001407971.1:c.788-1306dup
NM_001407972.1:c.785-1306dup
NM_001407973.1:c.788-1306dup
NM_001407974.1:c.788-1306dup
NM_001407975.1:c.788-1306dup
NM_001407976.1:c.788-1306dup
NM_001407977.1:c.788-1306dup
NM_001407978.1:c.788-1306dup
NM_001407979.1:c.788-1306dup
NM_001407980.1:c.788-1306dup
NM_001407981.1:c.788-1306dup
NM_001407982.1:c.788-1306dup
NM_001407983.1:c.788-1306dup
NM_001407984.1:c.785-1306dup
NM_001407985.1:c.785-1306dup
NM_001407986.1:c.785-1306dup
NM_001407990.1:c.788-1306dup
NM_001407991.1:c.785-1306dup
NM_001407992.1:c.785-1306dup
NM_001407993.1:c.788-1306dup
NM_001408392.1:c.785-1306dup
NM_001408396.1:c.785-1306dup
NM_001408397.1:c.785-1306dup
NM_001408398.1:c.785-1306dup
NM_001408399.1:c.785-1306dup
NM_001408400.1:c.785-1306dup
NM_001408401.1:c.785-1306dup
NM_001408402.1:c.785-1306dup
NM_001408403.1:c.788-1306dup
NM_001408404.1:c.788-1306dup
NM_001408406.1:c.791-1315dup
NM_001408407.1:c.785-1306dup
NM_001408408.1:c.779-1306dup
NM_001408409.1:c.710-1306dup
NM_001408410.1:c.647-1306dup
NM_001408411.1:c.710-1306dup
NM_001408412.1:c.710-1306dup
NM_001408413.1:c.707-1306dup
NM_001408414.1:c.710-1306dup
NM_001408415.1:c.710-1306dup
NM_001408416.1:c.707-1306dup
NM_001408418.1:c.671-1306dup
NM_001408419.1:c.671-1306dup
NM_001408420.1:c.671-1306dup
NM_001408421.1:c.668-1306dup
NM_001408422.1:c.671-1306dup
NM_001408423.1:c.671-1306dup
NM_001408424.1:c.668-1306dup
NM_001408425.1:c.665-1306dup
NM_001408426.1:c.665-1306dup
NM_001408427.1:c.665-1306dup
NM_001408428.1:c.665-1306dup
NM_001408429.1:c.665-1306dup
NM_001408430.1:c.665-1306dup
NM_001408431.1:c.668-1306dup
NM_001408432.1:c.662-1306dup
NM_001408433.1:c.662-1306dup
NM_001408434.1:c.662-1306dup
NM_001408435.1:c.662-1306dup
NM_001408436.1:c.665-1306dup
NM_001408437.1:c.665-1306dup
NM_001408438.1:c.665-1306dup
NM_001408439.1:c.665-1306dup
NM_001408440.1:c.665-1306dup
NM_001408441.1:c.665-1306dup
NM_001408442.1:c.665-1306dup
NM_001408443.1:c.665-1306dup
NM_001408444.1:c.665-1306dup
NM_001408445.1:c.662-1306dup
NM_001408446.1:c.662-1306dup
NM_001408447.1:c.662-1306dup
NM_001408448.1:c.662-1306dup
NM_001408450.1:c.662-1306dup
NM_001408451.1:c.653-1306dup
NM_001408452.1:c.647-1306dup
NM_001408453.1:c.647-1306dup
NM_001408454.1:c.647-1306dup
NM_001408455.1:c.647-1306dup
NM_001408456.1:c.647-1306dup
NM_001408457.1:c.647-1306dup
NM_001408458.1:c.647-1306dup
NM_001408459.1:c.647-1306dup
NM_001408460.1:c.647-1306dup
NM_001408461.1:c.647-1306dup
NM_001408462.1:c.644-1306dup
NM_001408463.1:c.644-1306dup
NM_001408464.1:c.644-1306dup
NM_001408465.1:c.644-1306dup
NM_001408466.1:c.647-1306dup
NM_001408467.1:c.647-1306dup
NM_001408468.1:c.644-1306dup
NM_001408469.1:c.647-1306dup
NM_001408470.1:c.644-1306dup
NM_001408472.1:c.788-1306dup
NM_001408473.1:c.785-1306dup
NM_001408474.1:c.587-1306dup
NM_001408475.1:c.584-1306dup
NM_001408476.1:c.587-1306dup
NM_001408478.1:c.578-1306dup
NM_001408479.1:c.578-1306dup
NM_001408480.1:c.578-1306dup
NM_001408481.1:c.578-1306dup
NM_001408482.1:c.578-1306dup
NM_001408483.1:c.578-1306dup
NM_001408484.1:c.578-1306dup
NM_001408485.1:c.578-1306dup
NM_001408489.1:c.578-1306dup
NM_001408490.1:c.575-1306dup
NM_001408491.1:c.575-1306dup
NM_001408492.1:c.578-1306dup
NM_001408493.1:c.575-1306dup
NM_001408494.1:c.548-1306dup
NM_001408495.1:c.545-1306dup
NM_001408496.1:c.524-1306dup
NM_001408497.1:c.524-1306dup
NM_001408498.1:c.524-1306dup
NM_001408499.1:c.524-1306dup
NM_001408500.1:c.524-1306dup
NM_001408501.1:c.524-1306dup
NM_001408502.1:c.455-1306dup
NM_001408503.1:c.521-1306dup
NM_001408504.1:c.521-1306dup
NM_001408505.1:c.521-1306dup
NM_001408506.1:c.461-1306dup
NM_001408507.1:c.461-1306dup
NM_001408508.1:c.452-1306dup
NM_001408509.1:c.452-1306dup
NM_001408510.1:c.407-1306dup
NM_001408511.1:c.404-1306dup
NM_001408512.1:c.284-1306dup
NM_001408513.1:c.578-1306dup
NM_001408514.1:c.578-1306dup
NM_007294.4:c.3193dupMANE SELECT
NM_007297.4:c.3052dup
NM_007298.4:c.788-1306dup
NM_007299.4:c.788-1306dup
NM_007300.4:c.3193dup
NP_001394500.1:p.Asp994fs
NP_001394510.1:p.Asp1065fs
NP_001394511.1:p.Asp1065fs
NP_001394512.1:p.Asp1065fs
NP_001394514.1:p.Asp1065fs
NP_001394516.1:p.Asp1064fs
NP_001394519.1:p.Asp1064fs
NP_001394520.1:p.Asp1064fs
NP_001394522.1:p.Asp1065fs
NP_001394523.1:p.Asp1065fs
NP_001394525.1:p.Asp1065fs
NP_001394526.1:p.Asp1065fs
NP_001394527.1:p.Asp1065fs
NP_001394531.1:p.Asp1065fs
NP_001394532.1:p.Asp1065fs
NP_001394534.1:p.Asp1065fs
NP_001394539.1:p.Asp1064fs
NP_001394540.1:p.Asp1064fs
NP_001394541.1:p.Asp1064fs
NP_001394542.1:p.Asp1064fs
NP_001394543.1:p.Asp1064fs
NP_001394544.1:p.Asp1064fs
NP_001394545.1:p.Asp1065fs
NP_001394546.1:p.Asp1065fs
NP_001394547.1:p.Asp1065fs
NP_001394548.1:p.Asp1065fs
NP_001394549.1:p.Asp1065fs
NP_001394550.1:p.Asp1065fs
NP_001394551.1:p.Asp1065fs
NP_001394552.1:p.Asp1065fs
NP_001394553.1:p.Asp1065fs
NP_001394554.1:p.Asp1065fs
NP_001394555.1:p.Asp1065fs
NP_001394556.1:p.Asp1064fs
NP_001394557.1:p.Asp1064fs
NP_001394558.1:p.Asp1064fs
NP_001394559.1:p.Asp1064fs
NP_001394560.1:p.Asp1064fs
NP_001394561.1:p.Asp1064fs
NP_001394562.1:p.Asp1064fs
NP_001394563.1:p.Asp1064fs
NP_001394564.1:p.Asp1064fs
NP_001394565.1:p.Asp1064fs
NP_001394566.1:p.Asp1064fs
NP_001394567.1:p.Asp1064fs
NP_001394568.1:p.Asp1065fs
NP_001394569.1:p.Asp1065fs
NP_001394570.1:p.Asp1065fs
NP_001394571.1:p.Asp1065fs
NP_001394573.1:p.Asp1064fs
NP_001394574.1:p.Asp1064fs
NP_001394575.1:p.Asp1062fs
NP_001394576.1:p.Asp1062fs
NP_001394577.1:p.Asp1024fs
NP_001394578.1:p.Asp1023fs
NP_001394581.1:p.Asp1065fs
NP_001394582.1:p.Asp1039fs
NP_001394583.1:p.Asp1039fs
NP_001394584.1:p.Asp1039fs
NP_001394585.1:p.Asp1039fs
NP_001394586.1:p.Asp1039fs
NP_001394587.1:p.Asp1039fs
NP_001394588.1:p.Asp1038fs
NP_001394589.1:p.Asp1038fs
NP_001394590.1:p.Asp1038fs
NP_001394591.1:p.Asp1038fs
NP_001394592.1:p.Asp1039fs
NP_001394593.1:p.Asp1024fs
NP_001394594.1:p.Asp1024fs
NP_001394595.1:p.Asp1024fs
NP_001394596.1:p.Asp1024fs
NP_001394597.1:p.Asp1024fs
NP_001394598.1:p.Asp1024fs
NP_001394599.1:p.Asp1023fs
NP_001394600.1:p.Asp1023fs
NP_001394601.1:p.Asp1023fs
NP_001394602.1:p.Asp1023fs
NP_001394603.1:p.Asp1024fs
NP_001394604.1:p.Asp1024fs
NP_001394605.1:p.Asp1024fs
NP_001394606.1:p.Asp1024fs
NP_001394607.1:p.Asp1024fs
NP_001394608.1:p.Asp1024fs
NP_001394609.1:p.Asp1024fs
NP_001394610.1:p.Asp1024fs
NP_001394611.1:p.Asp1024fs
NP_001394612.1:p.Asp1024fs
NP_001394613.1:p.Asp1065fs
NP_001394614.1:p.Asp1023fs
NP_001394615.1:p.Asp1023fs
NP_001394616.1:p.Asp1023fs
NP_001394617.1:p.Asp1023fs
NP_001394618.1:p.Asp1023fs
NP_001394619.1:p.Asp1023fs
NP_001394620.1:p.Asp1023fs
NP_001394621.1:p.Asp1018fs
NP_001394623.1:p.Asp1018fs
NP_001394624.1:p.Asp1018fs
NP_001394625.1:p.Asp1018fs
NP_001394626.1:p.Asp1018fs
NP_001394627.1:p.Asp1018fs
NP_001394653.1:p.Asp1018fs
NP_001394654.1:p.Asp1018fs
NP_001394655.1:p.Asp1018fs
NP_001394656.1:p.Asp1018fs
NP_001394657.1:p.Asp1018fs
NP_001394658.1:p.Asp1018fs
NP_001394659.1:p.Asp1018fs
NP_001394660.1:p.Asp1018fs
NP_001394661.1:p.Asp1018fs
NP_001394662.1:p.Asp1018fs
NP_001394663.1:p.Asp1018fs
NP_001394664.1:p.Asp1018fs
NP_001394665.1:p.Asp1018fs
NP_001394666.1:p.Asp1018fs
NP_001394667.1:p.Asp1018fs
NP_001394668.1:p.Asp1018fs
NP_001394669.1:p.Asp1017fs
NP_001394670.1:p.Asp1017fs
NP_001394671.1:p.Asp1017fs
NP_001394672.1:p.Asp1017fs
NP_001394673.1:p.Asp1017fs
NP_001394674.1:p.Asp1017fs
NP_001394675.1:p.Asp1017fs
NP_001394676.1:p.Asp1017fs
NP_001394677.1:p.Asp1017fs
NP_001394678.1:p.Asp1017fs
NP_001394679.1:p.Asp1018fs
NP_001394680.1:p.Asp1018fs
NP_001394681.1:p.Asp1018fs
NP_001394767.1:p.Asp1017fs
NP_001394768.1:p.Asp1017fs
NP_001394770.1:p.Asp1017fs
NP_001394771.1:p.Asp1017fs
NP_001394772.1:p.Asp1017fs
NP_001394773.1:p.Asp1017fs
NP_001394774.1:p.Asp1017fs
NP_001394775.1:p.Asp1017fs
NP_001394776.1:p.Asp1017fs
NP_001394777.1:p.Asp1017fs
NP_001394778.1:p.Asp1017fs
NP_001394779.1:p.Asp1018fs
NP_001394780.1:p.Asp1018fs
NP_001394781.1:p.Asp1018fs
NP_001394782.1:p.Asp994fs
NP_001394783.1:p.Asp1065fs
NP_001394787.1:p.Asp1065fs
NP_001394788.1:p.Asp1065fs
NP_001394789.1:p.Asp1064fs
NP_001394790.1:p.Asp1064fs
NP_001394791.1:p.Asp998fs
NP_001394792.1:p.Asp1024fs
NP_001394803.1:p.Asp997fs
NP_001394804.1:p.Asp997fs
NP_001394808.1:p.Asp995fs
NP_001394810.1:p.Asp995fs
NP_001394811.1:p.Asp995fs
NP_001394813.1:p.Asp995fs
NP_001394814.1:p.Asp995fs
NP_001394815.1:p.Asp995fs
NP_001394816.1:p.Asp995fs
NP_001394818.1:p.Asp995fs
NP_001394823.1:p.Asp994fs
NP_001394824.1:p.Asp994fs
NP_001394825.1:p.Asp994fs
NP_001394826.1:p.Asp994fs
NP_001394827.1:p.Asp994fs
NP_001394828.1:p.Asp994fs
NP_001394829.1:p.Asp995fs
NP_001394831.1:p.Asp995fs
NP_001394833.1:p.Asp995fs
NP_001394835.1:p.Asp995fs
NP_001394836.1:p.Asp995fs
NP_001394837.1:p.Asp995fs
NP_001394838.1:p.Asp995fs
NP_001394839.1:p.Asp995fs
NP_001394844.1:p.Asp994fs
NP_001394845.1:p.Asp994fs
NP_001394846.1:p.Asp994fs
NP_001394847.1:p.Asp994fs
NP_001394848.1:p.Asp1024fs
NP_001394849.1:p.Asp977fs
NP_001394850.1:p.Asp977fs
NP_001394851.1:p.Asp977fs
NP_001394852.1:p.Asp977fs
NP_001394853.1:p.Asp977fs
NP_001394854.1:p.Asp977fs
NP_001394855.1:p.Asp977fs
NP_001394856.1:p.Asp977fs
NP_001394857.1:p.Asp977fs
NP_001394858.1:p.Asp977fs
NP_001394859.1:p.Asp976fs
NP_001394860.1:p.Asp976fs
NP_001394861.1:p.Asp976fs
NP_001394862.1:p.Asp977fs
NP_001394863.1:p.Asp976fs
NP_001394864.1:p.Asp977fs
NP_001394865.1:p.Asp976fs
NP_001394866.1:p.Asp1024fs
NP_001394867.1:p.Asp1024fs
NP_001394868.1:p.Asp1024fs
NP_001394869.1:p.Asp1023fs
NP_001394870.1:p.Asp1023fs
NP_001394871.1:p.Asp1018fs
NP_001394872.1:p.Asp1017fs
NP_001394873.1:p.Asp1018fs
NP_001394874.1:p.Asp1018fs
NP_001394875.1:p.Asp954fs
NP_001394876.1:p.Asp954fs
NP_001394877.1:p.Asp954fs
NP_001394878.1:p.Asp954fs
NP_001394879.1:p.Asp954fs
NP_001394880.1:p.Asp954fs
NP_001394881.1:p.Asp954fs
NP_001394882.1:p.Asp954fs
NP_001394883.1:p.Asp953fs
NP_001394884.1:p.Asp953fs
NP_001394885.1:p.Asp953fs
NP_001394886.1:p.Asp954fs
NP_001394887.1:p.Asp953fs
NP_001394888.1:p.Asp938fs
NP_001394889.1:p.Asp938fs
NP_001394891.1:p.Asp937fs
NP_001394892.1:p.Asp938fs
NP_001394893.1:p.Asp1017fs
NP_001394894.1:p.Asp897fs
NP_001394895.1:p.Asp769fs
NP_001394896.1:p.Asp769fs
NP_009225.1:p.Asp1065fs
NP_009228.2:p.Asp1018fs
NP_009231.2:p.Asp1065fs
LRG_292t1:c.3193dup
LRG_292:g.125646dup
LRG_292p1:p.Asp1065Glyfs
NC_000017.10:g.41244355dup
NM_007294.3:c.3193dupG
NM_007294.4:c.3193dup
NR_027676.1:n.3329dup
U14680.1:n.3312_3313insG
p.Asp1065Glyfs*2

Nucleotide change:

3312insG

Protein change:

D1017fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3312&base_change=ins G; dbSNP: rs80357511

NCBI 1000 Genomes Browser:

rs80357511

Molecular consequence:

NM_001407571.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3184dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3184dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3112dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3112dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3112dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3112dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3115dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3190dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2992dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2983dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2980dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2857dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2857dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2857dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2857dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2809dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2689dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2305dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2305dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3193dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-199dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-199dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1315dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1306dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1306dup - 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
SCV000293468	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 8, 2024)	germline	clinical testing	Citation Link,
SCV000600320	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Mar 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293468

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 8, 2024)

germline

clinical testing

Citation Link,

SCV000600320

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Mar 4, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000293468.6

#	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); Observed in individuals with a personal and/or family history consistent with pathogenic variants in this gene (PMID: 11109172, 27208206, 28888541); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3312dupG; This variant is associated with the following publications: (PMID: 11109172, 17688236, 27208206, 31745186, 31853058, 28888541, 32090079)

#	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, SCV000600320.3

#	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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine