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NM_007294.4(BRCA1):c.3083del (p.Arg1028fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 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:
RCV003530071.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)]

NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)
HGVS:
  • NC_000017.11:g.43092448del
  • NG_005905.2:g.125536del
  • NM_001407571.1:c.2870del
  • NM_001407581.1:c.3083del
  • NM_001407582.1:c.3083del
  • NM_001407583.1:c.3083del
  • NM_001407585.1:c.3083del
  • NM_001407587.1:c.3080del
  • NM_001407590.1:c.3080del
  • NM_001407591.1:c.3080del
  • NM_001407593.1:c.3083del
  • NM_001407594.1:c.3083del
  • NM_001407596.1:c.3083del
  • NM_001407597.1:c.3083del
  • NM_001407598.1:c.3083del
  • NM_001407602.1:c.3083del
  • NM_001407603.1:c.3083del
  • NM_001407605.1:c.3083del
  • NM_001407610.1:c.3080del
  • NM_001407611.1:c.3080del
  • NM_001407612.1:c.3080del
  • NM_001407613.1:c.3080del
  • NM_001407614.1:c.3080del
  • NM_001407615.1:c.3080del
  • NM_001407616.1:c.3083del
  • NM_001407617.1:c.3083del
  • NM_001407618.1:c.3083del
  • NM_001407619.1:c.3083del
  • NM_001407620.1:c.3083del
  • NM_001407621.1:c.3083del
  • NM_001407622.1:c.3083del
  • NM_001407623.1:c.3083del
  • NM_001407624.1:c.3083del
  • NM_001407625.1:c.3083del
  • NM_001407626.1:c.3083del
  • NM_001407627.1:c.3080del
  • NM_001407628.1:c.3080del
  • NM_001407629.1:c.3080del
  • NM_001407630.1:c.3080del
  • NM_001407631.1:c.3080del
  • NM_001407632.1:c.3080del
  • NM_001407633.1:c.3080del
  • NM_001407634.1:c.3080del
  • NM_001407635.1:c.3080del
  • NM_001407636.1:c.3080del
  • NM_001407637.1:c.3080del
  • NM_001407638.1:c.3080del
  • NM_001407639.1:c.3083del
  • NM_001407640.1:c.3083del
  • NM_001407641.1:c.3083del
  • NM_001407642.1:c.3083del
  • NM_001407644.1:c.3080del
  • NM_001407645.1:c.3080del
  • NM_001407646.1:c.3074del
  • NM_001407647.1:c.3074del
  • NM_001407648.1:c.2960del
  • NM_001407649.1:c.2957del
  • NM_001407652.1:c.3083del
  • NM_001407653.1:c.3005del
  • NM_001407654.1:c.3005del
  • NM_001407655.1:c.3005del
  • NM_001407656.1:c.3005del
  • NM_001407657.1:c.3005del
  • NM_001407658.1:c.3005del
  • NM_001407659.1:c.3002del
  • NM_001407660.1:c.3002del
  • NM_001407661.1:c.3002del
  • NM_001407662.1:c.3002del
  • NM_001407663.1:c.3005del
  • NM_001407664.1:c.2960del
  • NM_001407665.1:c.2960del
  • NM_001407666.1:c.2960del
  • NM_001407667.1:c.2960del
  • NM_001407668.1:c.2960del
  • NM_001407669.1:c.2960del
  • NM_001407670.1:c.2957del
  • NM_001407671.1:c.2957del
  • NM_001407672.1:c.2957del
  • NM_001407673.1:c.2957del
  • NM_001407674.1:c.2960del
  • NM_001407675.1:c.2960del
  • NM_001407676.1:c.2960del
  • NM_001407677.1:c.2960del
  • NM_001407678.1:c.2960del
  • NM_001407679.1:c.2960del
  • NM_001407680.1:c.2960del
  • NM_001407681.1:c.2960del
  • NM_001407682.1:c.2960del
  • NM_001407683.1:c.2960del
  • NM_001407684.1:c.3083del
  • NM_001407685.1:c.2957del
  • NM_001407686.1:c.2957del
  • NM_001407687.1:c.2957del
  • NM_001407688.1:c.2957del
  • NM_001407689.1:c.2957del
  • NM_001407690.1:c.2957del
  • NM_001407691.1:c.2957del
  • NM_001407692.1:c.2942del
  • NM_001407694.1:c.2942del
  • NM_001407695.1:c.2942del
  • NM_001407696.1:c.2942del
  • NM_001407697.1:c.2942del
  • NM_001407698.1:c.2942del
  • NM_001407724.1:c.2942del
  • NM_001407725.1:c.2942del
  • NM_001407726.1:c.2942del
  • NM_001407727.1:c.2942del
  • NM_001407728.1:c.2942del
  • NM_001407729.1:c.2942del
  • NM_001407730.1:c.2942del
  • NM_001407731.1:c.2942del
  • NM_001407732.1:c.2942del
  • NM_001407733.1:c.2942del
  • NM_001407734.1:c.2942del
  • NM_001407735.1:c.2942del
  • NM_001407736.1:c.2942del
  • NM_001407737.1:c.2942del
  • NM_001407738.1:c.2942del
  • NM_001407739.1:c.2942del
  • NM_001407740.1:c.2939del
  • NM_001407741.1:c.2939del
  • NM_001407742.1:c.2939del
  • NM_001407743.1:c.2939del
  • NM_001407744.1:c.2939del
  • NM_001407745.1:c.2939del
  • NM_001407746.1:c.2939del
  • NM_001407747.1:c.2939del
  • NM_001407748.1:c.2939del
  • NM_001407749.1:c.2939del
  • NM_001407750.1:c.2942del
  • NM_001407751.1:c.2942del
  • NM_001407752.1:c.2942del
  • NM_001407838.1:c.2939del
  • NM_001407839.1:c.2939del
  • NM_001407841.1:c.2939del
  • NM_001407842.1:c.2939del
  • NM_001407843.1:c.2939del
  • NM_001407844.1:c.2939del
  • NM_001407845.1:c.2939del
  • NM_001407846.1:c.2939del
  • NM_001407847.1:c.2939del
  • NM_001407848.1:c.2939del
  • NM_001407849.1:c.2939del
  • NM_001407850.1:c.2942del
  • NM_001407851.1:c.2942del
  • NM_001407852.1:c.2942del
  • NM_001407853.1:c.2870del
  • NM_001407854.1:c.3083del
  • NM_001407858.1:c.3083del
  • NM_001407859.1:c.3083del
  • NM_001407860.1:c.3080del
  • NM_001407861.1:c.3080del
  • NM_001407862.1:c.2882del
  • NM_001407863.1:c.2960del
  • NM_001407874.1:c.2879del
  • NM_001407875.1:c.2879del
  • NM_001407879.1:c.2873del
  • NM_001407881.1:c.2873del
  • NM_001407882.1:c.2873del
  • NM_001407884.1:c.2873del
  • NM_001407885.1:c.2873del
  • NM_001407886.1:c.2873del
  • NM_001407887.1:c.2873del
  • NM_001407889.1:c.2873del
  • NM_001407894.1:c.2870del
  • NM_001407895.1:c.2870del
  • NM_001407896.1:c.2870del
  • NM_001407897.1:c.2870del
  • NM_001407898.1:c.2870del
  • NM_001407899.1:c.2870del
  • NM_001407900.1:c.2873del
  • NM_001407902.1:c.2873del
  • NM_001407904.1:c.2873del
  • NM_001407906.1:c.2873del
  • NM_001407907.1:c.2873del
  • NM_001407908.1:c.2873del
  • NM_001407909.1:c.2873del
  • NM_001407910.1:c.2873del
  • NM_001407915.1:c.2870del
  • NM_001407916.1:c.2870del
  • NM_001407917.1:c.2870del
  • NM_001407918.1:c.2870del
  • NM_001407919.1:c.2960del
  • NM_001407920.1:c.2819del
  • NM_001407921.1:c.2819del
  • NM_001407922.1:c.2819del
  • NM_001407923.1:c.2819del
  • NM_001407924.1:c.2819del
  • NM_001407925.1:c.2819del
  • NM_001407926.1:c.2819del
  • NM_001407927.1:c.2819del
  • NM_001407928.1:c.2819del
  • NM_001407929.1:c.2819del
  • NM_001407930.1:c.2816del
  • NM_001407931.1:c.2816del
  • NM_001407932.1:c.2816del
  • NM_001407933.1:c.2819del
  • NM_001407934.1:c.2816del
  • NM_001407935.1:c.2819del
  • NM_001407936.1:c.2816del
  • NM_001407937.1:c.2960del
  • NM_001407938.1:c.2960del
  • NM_001407939.1:c.2960del
  • NM_001407940.1:c.2957del
  • NM_001407941.1:c.2957del
  • NM_001407942.1:c.2942del
  • NM_001407943.1:c.2939del
  • NM_001407944.1:c.2942del
  • NM_001407945.1:c.2942del
  • NM_001407946.1:c.2750del
  • NM_001407947.1:c.2750del
  • NM_001407948.1:c.2750del
  • NM_001407949.1:c.2750del
  • NM_001407950.1:c.2750del
  • NM_001407951.1:c.2750del
  • NM_001407952.1:c.2750del
  • NM_001407953.1:c.2750del
  • NM_001407954.1:c.2747del
  • NM_001407955.1:c.2747del
  • NM_001407956.1:c.2747del
  • NM_001407957.1:c.2750del
  • NM_001407958.1:c.2747del
  • NM_001407959.1:c.2702del
  • NM_001407960.1:c.2702del
  • NM_001407962.1:c.2699del
  • NM_001407963.1:c.2702del
  • NM_001407964.1:c.2939del
  • NM_001407965.1:c.2579del
  • NM_001407966.1:c.2195del
  • NM_001407967.1:c.2195del
  • NM_001407968.1:c.788-309del
  • NM_001407969.1:c.788-309del
  • NM_001407970.1:c.788-1416del
  • NM_001407971.1:c.788-1416del
  • NM_001407972.1:c.785-1416del
  • NM_001407973.1:c.788-1416del
  • NM_001407974.1:c.788-1416del
  • NM_001407975.1:c.788-1416del
  • NM_001407976.1:c.788-1416del
  • NM_001407977.1:c.788-1416del
  • NM_001407978.1:c.788-1416del
  • NM_001407979.1:c.788-1416del
  • NM_001407980.1:c.788-1416del
  • NM_001407981.1:c.788-1416del
  • NM_001407982.1:c.788-1416del
  • NM_001407983.1:c.788-1416del
  • NM_001407984.1:c.785-1416del
  • NM_001407985.1:c.785-1416del
  • NM_001407986.1:c.785-1416del
  • NM_001407990.1:c.788-1416del
  • NM_001407991.1:c.785-1416del
  • NM_001407992.1:c.785-1416del
  • NM_001407993.1:c.788-1416del
  • NM_001408392.1:c.785-1416del
  • NM_001408396.1:c.785-1416del
  • NM_001408397.1:c.785-1416del
  • NM_001408398.1:c.785-1416del
  • NM_001408399.1:c.785-1416del
  • NM_001408400.1:c.785-1416del
  • NM_001408401.1:c.785-1416del
  • NM_001408402.1:c.785-1416del
  • NM_001408403.1:c.788-1416del
  • NM_001408404.1:c.788-1416del
  • NM_001408406.1:c.791-1425del
  • NM_001408407.1:c.785-1416del
  • NM_001408408.1:c.779-1416del
  • NM_001408409.1:c.710-1416del
  • NM_001408410.1:c.647-1416del
  • NM_001408411.1:c.710-1416del
  • NM_001408412.1:c.710-1416del
  • NM_001408413.1:c.707-1416del
  • NM_001408414.1:c.710-1416del
  • NM_001408415.1:c.710-1416del
  • NM_001408416.1:c.707-1416del
  • NM_001408418.1:c.671-1416del
  • NM_001408419.1:c.671-1416del
  • NM_001408420.1:c.671-1416del
  • NM_001408421.1:c.668-1416del
  • NM_001408422.1:c.671-1416del
  • NM_001408423.1:c.671-1416del
  • NM_001408424.1:c.668-1416del
  • NM_001408425.1:c.665-1416del
  • NM_001408426.1:c.665-1416del
  • NM_001408427.1:c.665-1416del
  • NM_001408428.1:c.665-1416del
  • NM_001408429.1:c.665-1416del
  • NM_001408430.1:c.665-1416del
  • NM_001408431.1:c.668-1416del
  • NM_001408432.1:c.662-1416del
  • NM_001408433.1:c.662-1416del
  • NM_001408434.1:c.662-1416del
  • NM_001408435.1:c.662-1416del
  • NM_001408436.1:c.665-1416del
  • NM_001408437.1:c.665-1416del
  • NM_001408438.1:c.665-1416del
  • NM_001408439.1:c.665-1416del
  • NM_001408440.1:c.665-1416del
  • NM_001408441.1:c.665-1416del
  • NM_001408442.1:c.665-1416del
  • NM_001408443.1:c.665-1416del
  • NM_001408444.1:c.665-1416del
  • NM_001408445.1:c.662-1416del
  • NM_001408446.1:c.662-1416del
  • NM_001408447.1:c.662-1416del
  • NM_001408448.1:c.662-1416del
  • NM_001408450.1:c.662-1416del
  • NM_001408451.1:c.653-1416del
  • NM_001408452.1:c.647-1416del
  • NM_001408453.1:c.647-1416del
  • NM_001408454.1:c.647-1416del
  • NM_001408455.1:c.647-1416del
  • NM_001408456.1:c.647-1416del
  • NM_001408457.1:c.647-1416del
  • NM_001408458.1:c.647-1416del
  • NM_001408459.1:c.647-1416del
  • NM_001408460.1:c.647-1416del
  • NM_001408461.1:c.647-1416del
  • NM_001408462.1:c.644-1416del
  • NM_001408463.1:c.644-1416del
  • NM_001408464.1:c.644-1416del
  • NM_001408465.1:c.644-1416del
  • NM_001408466.1:c.647-1416del
  • NM_001408467.1:c.647-1416del
  • NM_001408468.1:c.644-1416del
  • NM_001408469.1:c.647-1416del
  • NM_001408470.1:c.644-1416del
  • NM_001408472.1:c.788-1416del
  • NM_001408473.1:c.785-1416del
  • NM_001408474.1:c.587-1416del
  • NM_001408475.1:c.584-1416del
  • NM_001408476.1:c.587-1416del
  • NM_001408478.1:c.578-1416del
  • NM_001408479.1:c.578-1416del
  • NM_001408480.1:c.578-1416del
  • NM_001408481.1:c.578-1416del
  • NM_001408482.1:c.578-1416del
  • NM_001408483.1:c.578-1416del
  • NM_001408484.1:c.578-1416del
  • NM_001408485.1:c.578-1416del
  • NM_001408489.1:c.578-1416del
  • NM_001408490.1:c.575-1416del
  • NM_001408491.1:c.575-1416del
  • NM_001408492.1:c.578-1416del
  • NM_001408493.1:c.575-1416del
  • NM_001408494.1:c.548-1416del
  • NM_001408495.1:c.545-1416del
  • NM_001408496.1:c.524-1416del
  • NM_001408497.1:c.524-1416del
  • NM_001408498.1:c.524-1416del
  • NM_001408499.1:c.524-1416del
  • NM_001408500.1:c.524-1416del
  • NM_001408501.1:c.524-1416del
  • NM_001408502.1:c.455-1416del
  • NM_001408503.1:c.521-1416del
  • NM_001408504.1:c.521-1416del
  • NM_001408505.1:c.521-1416del
  • NM_001408506.1:c.461-1416del
  • NM_001408507.1:c.461-1416del
  • NM_001408508.1:c.452-1416del
  • NM_001408509.1:c.452-1416del
  • NM_001408510.1:c.407-1416del
  • NM_001408511.1:c.404-1416del
  • NM_001408512.1:c.284-1416del
  • NM_001408513.1:c.578-1416del
  • NM_001408514.1:c.578-1416del
  • NM_007294.4:c.3083delMANE SELECT
  • NM_007297.4:c.2942del
  • NM_007298.4:c.788-1416del
  • NM_007299.4:c.788-1416del
  • NM_007300.4:c.3083del
  • NP_001394500.1:p.Arg957fs
  • NP_001394510.1:p.Arg1028fs
  • NP_001394511.1:p.Arg1028fs
  • NP_001394512.1:p.Arg1028fs
  • NP_001394514.1:p.Arg1028fs
  • NP_001394516.1:p.Arg1027fs
  • NP_001394519.1:p.Arg1027fs
  • NP_001394520.1:p.Arg1027fs
  • NP_001394522.1:p.Arg1028fs
  • NP_001394523.1:p.Arg1028fs
  • NP_001394525.1:p.Arg1028fs
  • NP_001394526.1:p.Arg1028fs
  • NP_001394527.1:p.Arg1028fs
  • NP_001394531.1:p.Arg1028fs
  • NP_001394532.1:p.Arg1028fs
  • NP_001394534.1:p.Arg1028fs
  • NP_001394539.1:p.Arg1027fs
  • NP_001394540.1:p.Arg1027fs
  • NP_001394541.1:p.Arg1027fs
  • NP_001394542.1:p.Arg1027fs
  • NP_001394543.1:p.Arg1027fs
  • NP_001394544.1:p.Arg1027fs
  • NP_001394545.1:p.Arg1028fs
  • NP_001394546.1:p.Arg1028fs
  • NP_001394547.1:p.Arg1028fs
  • NP_001394548.1:p.Arg1028fs
  • NP_001394549.1:p.Arg1028fs
  • NP_001394550.1:p.Arg1028fs
  • NP_001394551.1:p.Arg1028fs
  • NP_001394552.1:p.Arg1028fs
  • NP_001394553.1:p.Arg1028fs
  • NP_001394554.1:p.Arg1028fs
  • NP_001394555.1:p.Arg1028fs
  • NP_001394556.1:p.Arg1027fs
  • NP_001394557.1:p.Arg1027fs
  • NP_001394558.1:p.Arg1027fs
  • NP_001394559.1:p.Arg1027fs
  • NP_001394560.1:p.Arg1027fs
  • NP_001394561.1:p.Arg1027fs
  • NP_001394562.1:p.Arg1027fs
  • NP_001394563.1:p.Arg1027fs
  • NP_001394564.1:p.Arg1027fs
  • NP_001394565.1:p.Arg1027fs
  • NP_001394566.1:p.Arg1027fs
  • NP_001394567.1:p.Arg1027fs
  • NP_001394568.1:p.Arg1028fs
  • NP_001394569.1:p.Arg1028fs
  • NP_001394570.1:p.Arg1028fs
  • NP_001394571.1:p.Arg1028fs
  • NP_001394573.1:p.Arg1027fs
  • NP_001394574.1:p.Arg1027fs
  • NP_001394575.1:p.Arg1025fs
  • NP_001394576.1:p.Arg1025fs
  • NP_001394577.1:p.Arg987fs
  • NP_001394578.1:p.Arg986fs
  • NP_001394581.1:p.Arg1028fs
  • NP_001394582.1:p.Arg1002fs
  • NP_001394583.1:p.Arg1002fs
  • NP_001394584.1:p.Arg1002fs
  • NP_001394585.1:p.Arg1002fs
  • NP_001394586.1:p.Arg1002fs
  • NP_001394587.1:p.Arg1002fs
  • NP_001394588.1:p.Arg1001fs
  • NP_001394589.1:p.Arg1001fs
  • NP_001394590.1:p.Arg1001fs
  • NP_001394591.1:p.Arg1001fs
  • NP_001394592.1:p.Arg1002fs
  • NP_001394593.1:p.Arg987fs
  • NP_001394594.1:p.Arg987fs
  • NP_001394595.1:p.Arg987fs
  • NP_001394596.1:p.Arg987fs
  • NP_001394597.1:p.Arg987fs
  • NP_001394598.1:p.Arg987fs
  • NP_001394599.1:p.Arg986fs
  • NP_001394600.1:p.Arg986fs
  • NP_001394601.1:p.Arg986fs
  • NP_001394602.1:p.Arg986fs
  • NP_001394603.1:p.Arg987fs
  • NP_001394604.1:p.Arg987fs
  • NP_001394605.1:p.Arg987fs
  • NP_001394606.1:p.Arg987fs
  • NP_001394607.1:p.Arg987fs
  • NP_001394608.1:p.Arg987fs
  • NP_001394609.1:p.Arg987fs
  • NP_001394610.1:p.Arg987fs
  • NP_001394611.1:p.Arg987fs
  • NP_001394612.1:p.Arg987fs
  • NP_001394613.1:p.Arg1028fs
  • NP_001394614.1:p.Arg986fs
  • NP_001394615.1:p.Arg986fs
  • NP_001394616.1:p.Arg986fs
  • NP_001394617.1:p.Arg986fs
  • NP_001394618.1:p.Arg986fs
  • NP_001394619.1:p.Arg986fs
  • NP_001394620.1:p.Arg986fs
  • NP_001394621.1:p.Arg981fs
  • NP_001394623.1:p.Arg981fs
  • NP_001394624.1:p.Arg981fs
  • NP_001394625.1:p.Arg981fs
  • NP_001394626.1:p.Arg981fs
  • NP_001394627.1:p.Arg981fs
  • NP_001394653.1:p.Arg981fs
  • NP_001394654.1:p.Arg981fs
  • NP_001394655.1:p.Arg981fs
  • NP_001394656.1:p.Arg981fs
  • NP_001394657.1:p.Arg981fs
  • NP_001394658.1:p.Arg981fs
  • NP_001394659.1:p.Arg981fs
  • NP_001394660.1:p.Arg981fs
  • NP_001394661.1:p.Arg981fs
  • NP_001394662.1:p.Arg981fs
  • NP_001394663.1:p.Arg981fs
  • NP_001394664.1:p.Arg981fs
  • NP_001394665.1:p.Arg981fs
  • NP_001394666.1:p.Arg981fs
  • NP_001394667.1:p.Arg981fs
  • NP_001394668.1:p.Arg981fs
  • NP_001394669.1:p.Arg980fs
  • NP_001394670.1:p.Arg980fs
  • NP_001394671.1:p.Arg980fs
  • NP_001394672.1:p.Arg980fs
  • NP_001394673.1:p.Arg980fs
  • NP_001394674.1:p.Arg980fs
  • NP_001394675.1:p.Arg980fs
  • NP_001394676.1:p.Arg980fs
  • NP_001394677.1:p.Arg980fs
  • NP_001394678.1:p.Arg980fs
  • NP_001394679.1:p.Arg981fs
  • NP_001394680.1:p.Arg981fs
  • NP_001394681.1:p.Arg981fs
  • NP_001394767.1:p.Arg980fs
  • NP_001394768.1:p.Arg980fs
  • NP_001394770.1:p.Arg980fs
  • NP_001394771.1:p.Arg980fs
  • NP_001394772.1:p.Arg980fs
  • NP_001394773.1:p.Arg980fs
  • NP_001394774.1:p.Arg980fs
  • NP_001394775.1:p.Arg980fs
  • NP_001394776.1:p.Arg980fs
  • NP_001394777.1:p.Arg980fs
  • NP_001394778.1:p.Arg980fs
  • NP_001394779.1:p.Arg981fs
  • NP_001394780.1:p.Arg981fs
  • NP_001394781.1:p.Arg981fs
  • NP_001394782.1:p.Arg957fs
  • NP_001394783.1:p.Arg1028fs
  • NP_001394787.1:p.Arg1028fs
  • NP_001394788.1:p.Arg1028fs
  • NP_001394789.1:p.Arg1027fs
  • NP_001394790.1:p.Arg1027fs
  • NP_001394791.1:p.Arg961fs
  • NP_001394792.1:p.Arg987fs
  • NP_001394803.1:p.Arg960fs
  • NP_001394804.1:p.Arg960fs
  • NP_001394808.1:p.Arg958fs
  • NP_001394810.1:p.Arg958fs
  • NP_001394811.1:p.Arg958fs
  • NP_001394813.1:p.Arg958fs
  • NP_001394814.1:p.Arg958fs
  • NP_001394815.1:p.Arg958fs
  • NP_001394816.1:p.Arg958fs
  • NP_001394818.1:p.Arg958fs
  • NP_001394823.1:p.Arg957fs
  • NP_001394824.1:p.Arg957fs
  • NP_001394825.1:p.Arg957fs
  • NP_001394826.1:p.Arg957fs
  • NP_001394827.1:p.Arg957fs
  • NP_001394828.1:p.Arg957fs
  • NP_001394829.1:p.Arg958fs
  • NP_001394831.1:p.Arg958fs
  • NP_001394833.1:p.Arg958fs
  • NP_001394835.1:p.Arg958fs
  • NP_001394836.1:p.Arg958fs
  • NP_001394837.1:p.Arg958fs
  • NP_001394838.1:p.Arg958fs
  • NP_001394839.1:p.Arg958fs
  • NP_001394844.1:p.Arg957fs
  • NP_001394845.1:p.Arg957fs
  • NP_001394846.1:p.Arg957fs
  • NP_001394847.1:p.Arg957fs
  • NP_001394848.1:p.Arg987fs
  • NP_001394849.1:p.Arg940fs
  • NP_001394850.1:p.Arg940fs
  • NP_001394851.1:p.Arg940fs
  • NP_001394852.1:p.Arg940fs
  • NP_001394853.1:p.Arg940fs
  • NP_001394854.1:p.Arg940fs
  • NP_001394855.1:p.Arg940fs
  • NP_001394856.1:p.Arg940fs
  • NP_001394857.1:p.Arg940fs
  • NP_001394858.1:p.Arg940fs
  • NP_001394859.1:p.Arg939fs
  • NP_001394860.1:p.Arg939fs
  • NP_001394861.1:p.Arg939fs
  • NP_001394862.1:p.Arg940fs
  • NP_001394863.1:p.Arg939fs
  • NP_001394864.1:p.Arg940fs
  • NP_001394865.1:p.Arg939fs
  • NP_001394866.1:p.Arg987fs
  • NP_001394867.1:p.Arg987fs
  • NP_001394868.1:p.Arg987fs
  • NP_001394869.1:p.Arg986fs
  • NP_001394870.1:p.Arg986fs
  • NP_001394871.1:p.Arg981fs
  • NP_001394872.1:p.Arg980fs
  • NP_001394873.1:p.Arg981fs
  • NP_001394874.1:p.Arg981fs
  • NP_001394875.1:p.Arg917fs
  • NP_001394876.1:p.Arg917fs
  • NP_001394877.1:p.Arg917fs
  • NP_001394878.1:p.Arg917fs
  • NP_001394879.1:p.Arg917fs
  • NP_001394880.1:p.Arg917fs
  • NP_001394881.1:p.Arg917fs
  • NP_001394882.1:p.Arg917fs
  • NP_001394883.1:p.Arg916fs
  • NP_001394884.1:p.Arg916fs
  • NP_001394885.1:p.Arg916fs
  • NP_001394886.1:p.Arg917fs
  • NP_001394887.1:p.Arg916fs
  • NP_001394888.1:p.Arg901fs
  • NP_001394889.1:p.Arg901fs
  • NP_001394891.1:p.Arg900fs
  • NP_001394892.1:p.Arg901fs
  • NP_001394893.1:p.Arg980fs
  • NP_001394894.1:p.Arg860fs
  • NP_001394895.1:p.Arg732fs
  • NP_001394896.1:p.Arg732fs
  • NP_009225.1:p.Arg1028Leufs
  • NP_009225.1:p.Arg1028fs
  • NP_009228.2:p.Arg981fs
  • NP_009231.2:p.Arg1028fs
  • LRG_292t1:c.3083del
  • LRG_292:g.125536del
  • LRG_292p1:p.Arg1028Leufs
  • NC_000017.10:g.41244465del
  • NM_007294.3:c.3083delG
  • NM_007294.3:c.3083delG
  • NR_027676.1:n.3219delG
Protein change:
R1001fs
Links:
dbSNP: rs1484076591
NCBI 1000 Genomes Browser:
rs1484076591
Molecular consequence:
  • NM_001407571.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3074del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3074del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3080del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2870del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2816del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2816del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2816del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2816del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2819del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2816del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2747del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2747del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2747del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2747del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2699del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2939del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2195del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2195del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-309del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-309del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1425del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1416del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1416del - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004326964Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.

Chao A, Lin YH, Yang LY, Wu RC, Chang WY, Chang PY, Chang SC, Lin CY, Huang HJ, Lin CT, Chou HH, Huang KG, Kuo WL, Chang TC, Lai CH.

J Gynecol Oncol. 2020 May;31(3):e24. doi: 10.3802/jgo.2020.31.e24. Epub 2019 Oct 25.

PubMed [citation]
PMID:
31912679
PMCID:
PMC7189074

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J, Sinha S, Qin Z, Wang SM.

Front Mol Biosci. 2021;8:685174. doi: 10.3389/fmolb.2021.685174.

PubMed [citation]
PMID:
34235180
PMCID:
PMC8256441
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004326964.1

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

Description

This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 31912679, 34235180). ClinVar contains an entry for this variant (Variation ID: 481038). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1028Leufs*20) 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).

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

Last Updated: Sep 29, 2024