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NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353931.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)]

NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)

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.3048_3052dup (p.Asn1018fs)
Other names:
3171ins5; 3166ins5; 3166insTGAGA
HGVS:
  • NC_000017.11:g.43092480_43092484dup
  • NG_005905.2:g.125501_125505dup
  • NM_001407571.1:c.2835_2839dup
  • NM_001407581.1:c.3048_3052dup
  • NM_001407582.1:c.3048_3052dup
  • NM_001407583.1:c.3048_3052dup
  • NM_001407585.1:c.3048_3052dup
  • NM_001407587.1:c.3045_3049dup
  • NM_001407590.1:c.3045_3049dup
  • NM_001407591.1:c.3045_3049dup
  • NM_001407593.1:c.3048_3052dup
  • NM_001407594.1:c.3048_3052dup
  • NM_001407596.1:c.3048_3052dup
  • NM_001407597.1:c.3048_3052dup
  • NM_001407598.1:c.3048_3052dup
  • NM_001407602.1:c.3048_3052dup
  • NM_001407603.1:c.3048_3052dup
  • NM_001407605.1:c.3048_3052dup
  • NM_001407610.1:c.3045_3049dup
  • NM_001407611.1:c.3045_3049dup
  • NM_001407612.1:c.3045_3049dup
  • NM_001407613.1:c.3045_3049dup
  • NM_001407614.1:c.3045_3049dup
  • NM_001407615.1:c.3045_3049dup
  • NM_001407616.1:c.3048_3052dup
  • NM_001407617.1:c.3048_3052dup
  • NM_001407618.1:c.3048_3052dup
  • NM_001407619.1:c.3048_3052dup
  • NM_001407620.1:c.3048_3052dup
  • NM_001407621.1:c.3048_3052dup
  • NM_001407622.1:c.3048_3052dup
  • NM_001407623.1:c.3048_3052dup
  • NM_001407624.1:c.3048_3052dup
  • NM_001407625.1:c.3048_3052dup
  • NM_001407626.1:c.3048_3052dup
  • NM_001407627.1:c.3045_3049dup
  • NM_001407628.1:c.3045_3049dup
  • NM_001407629.1:c.3045_3049dup
  • NM_001407630.1:c.3045_3049dup
  • NM_001407631.1:c.3045_3049dup
  • NM_001407632.1:c.3045_3049dup
  • NM_001407633.1:c.3045_3049dup
  • NM_001407634.1:c.3045_3049dup
  • NM_001407635.1:c.3045_3049dup
  • NM_001407636.1:c.3045_3049dup
  • NM_001407637.1:c.3045_3049dup
  • NM_001407638.1:c.3045_3049dup
  • NM_001407639.1:c.3048_3052dup
  • NM_001407640.1:c.3048_3052dup
  • NM_001407641.1:c.3048_3052dup
  • NM_001407642.1:c.3048_3052dup
  • NM_001407644.1:c.3045_3049dup
  • NM_001407645.1:c.3045_3049dup
  • NM_001407646.1:c.3039_3043dup
  • NM_001407647.1:c.3039_3043dup
  • NM_001407648.1:c.2925_2929dup
  • NM_001407649.1:c.2922_2926dup
  • NM_001407652.1:c.3048_3052dup
  • NM_001407653.1:c.2970_2974dup
  • NM_001407654.1:c.2970_2974dup
  • NM_001407655.1:c.2970_2974dup
  • NM_001407656.1:c.2970_2974dup
  • NM_001407657.1:c.2970_2974dup
  • NM_001407658.1:c.2970_2974dup
  • NM_001407659.1:c.2967_2971dup
  • NM_001407660.1:c.2967_2971dup
  • NM_001407661.1:c.2967_2971dup
  • NM_001407662.1:c.2967_2971dup
  • NM_001407663.1:c.2970_2974dup
  • NM_001407664.1:c.2925_2929dup
  • NM_001407665.1:c.2925_2929dup
  • NM_001407666.1:c.2925_2929dup
  • NM_001407667.1:c.2925_2929dup
  • NM_001407668.1:c.2925_2929dup
  • NM_001407669.1:c.2925_2929dup
  • NM_001407670.1:c.2922_2926dup
  • NM_001407671.1:c.2922_2926dup
  • NM_001407672.1:c.2922_2926dup
  • NM_001407673.1:c.2922_2926dup
  • NM_001407674.1:c.2925_2929dup
  • NM_001407675.1:c.2925_2929dup
  • NM_001407676.1:c.2925_2929dup
  • NM_001407677.1:c.2925_2929dup
  • NM_001407678.1:c.2925_2929dup
  • NM_001407679.1:c.2925_2929dup
  • NM_001407680.1:c.2925_2929dup
  • NM_001407681.1:c.2925_2929dup
  • NM_001407682.1:c.2925_2929dup
  • NM_001407683.1:c.2925_2929dup
  • NM_001407684.1:c.3048_3052dup
  • NM_001407685.1:c.2922_2926dup
  • NM_001407686.1:c.2922_2926dup
  • NM_001407687.1:c.2922_2926dup
  • NM_001407688.1:c.2922_2926dup
  • NM_001407689.1:c.2922_2926dup
  • NM_001407690.1:c.2922_2926dup
  • NM_001407691.1:c.2922_2926dup
  • NM_001407692.1:c.2907_2911dup
  • NM_001407694.1:c.2907_2911dup
  • NM_001407695.1:c.2907_2911dup
  • NM_001407696.1:c.2907_2911dup
  • NM_001407697.1:c.2907_2911dup
  • NM_001407698.1:c.2907_2911dup
  • NM_001407724.1:c.2907_2911dup
  • NM_001407725.1:c.2907_2911dup
  • NM_001407726.1:c.2907_2911dup
  • NM_001407727.1:c.2907_2911dup
  • NM_001407728.1:c.2907_2911dup
  • NM_001407729.1:c.2907_2911dup
  • NM_001407730.1:c.2907_2911dup
  • NM_001407731.1:c.2907_2911dup
  • NM_001407732.1:c.2907_2911dup
  • NM_001407733.1:c.2907_2911dup
  • NM_001407734.1:c.2907_2911dup
  • NM_001407735.1:c.2907_2911dup
  • NM_001407736.1:c.2907_2911dup
  • NM_001407737.1:c.2907_2911dup
  • NM_001407738.1:c.2907_2911dup
  • NM_001407739.1:c.2907_2911dup
  • NM_001407740.1:c.2904_2908dup
  • NM_001407741.1:c.2904_2908dup
  • NM_001407742.1:c.2904_2908dup
  • NM_001407743.1:c.2904_2908dup
  • NM_001407744.1:c.2904_2908dup
  • NM_001407745.1:c.2904_2908dup
  • NM_001407746.1:c.2904_2908dup
  • NM_001407747.1:c.2904_2908dup
  • NM_001407748.1:c.2904_2908dup
  • NM_001407749.1:c.2904_2908dup
  • NM_001407750.1:c.2907_2911dup
  • NM_001407751.1:c.2907_2911dup
  • NM_001407752.1:c.2907_2911dup
  • NM_001407838.1:c.2904_2908dup
  • NM_001407839.1:c.2904_2908dup
  • NM_001407841.1:c.2904_2908dup
  • NM_001407842.1:c.2904_2908dup
  • NM_001407843.1:c.2904_2908dup
  • NM_001407844.1:c.2904_2908dup
  • NM_001407845.1:c.2904_2908dup
  • NM_001407846.1:c.2904_2908dup
  • NM_001407847.1:c.2904_2908dup
  • NM_001407848.1:c.2904_2908dup
  • NM_001407849.1:c.2904_2908dup
  • NM_001407850.1:c.2907_2911dup
  • NM_001407851.1:c.2907_2911dup
  • NM_001407852.1:c.2907_2911dup
  • NM_001407853.1:c.2835_2839dup
  • NM_001407854.1:c.3048_3052dup
  • NM_001407858.1:c.3048_3052dup
  • NM_001407859.1:c.3048_3052dup
  • NM_001407860.1:c.3045_3049dup
  • NM_001407861.1:c.3045_3049dup
  • NM_001407862.1:c.2847_2851dup
  • NM_001407863.1:c.2925_2929dup
  • NM_001407874.1:c.2844_2848dup
  • NM_001407875.1:c.2844_2848dup
  • NM_001407879.1:c.2838_2842dup
  • NM_001407881.1:c.2838_2842dup
  • NM_001407882.1:c.2838_2842dup
  • NM_001407884.1:c.2838_2842dup
  • NM_001407885.1:c.2838_2842dup
  • NM_001407886.1:c.2838_2842dup
  • NM_001407887.1:c.2838_2842dup
  • NM_001407889.1:c.2838_2842dup
  • NM_001407894.1:c.2835_2839dup
  • NM_001407895.1:c.2835_2839dup
  • NM_001407896.1:c.2835_2839dup
  • NM_001407897.1:c.2835_2839dup
  • NM_001407898.1:c.2835_2839dup
  • NM_001407899.1:c.2835_2839dup
  • NM_001407900.1:c.2838_2842dup
  • NM_001407902.1:c.2838_2842dup
  • NM_001407904.1:c.2838_2842dup
  • NM_001407906.1:c.2838_2842dup
  • NM_001407907.1:c.2838_2842dup
  • NM_001407908.1:c.2838_2842dup
  • NM_001407909.1:c.2838_2842dup
  • NM_001407910.1:c.2838_2842dup
  • NM_001407915.1:c.2835_2839dup
  • NM_001407916.1:c.2835_2839dup
  • NM_001407917.1:c.2835_2839dup
  • NM_001407918.1:c.2835_2839dup
  • NM_001407919.1:c.2925_2929dup
  • NM_001407920.1:c.2784_2788dup
  • NM_001407921.1:c.2784_2788dup
  • NM_001407922.1:c.2784_2788dup
  • NM_001407923.1:c.2784_2788dup
  • NM_001407924.1:c.2784_2788dup
  • NM_001407925.1:c.2784_2788dup
  • NM_001407926.1:c.2784_2788dup
  • NM_001407927.1:c.2784_2788dup
  • NM_001407928.1:c.2784_2788dup
  • NM_001407929.1:c.2784_2788dup
  • NM_001407930.1:c.2781_2785dup
  • NM_001407931.1:c.2781_2785dup
  • NM_001407932.1:c.2781_2785dup
  • NM_001407933.1:c.2784_2788dup
  • NM_001407934.1:c.2781_2785dup
  • NM_001407935.1:c.2784_2788dup
  • NM_001407936.1:c.2781_2785dup
  • NM_001407937.1:c.2925_2929dup
  • NM_001407938.1:c.2925_2929dup
  • NM_001407939.1:c.2925_2929dup
  • NM_001407940.1:c.2922_2926dup
  • NM_001407941.1:c.2922_2926dup
  • NM_001407942.1:c.2907_2911dup
  • NM_001407943.1:c.2904_2908dup
  • NM_001407944.1:c.2907_2911dup
  • NM_001407945.1:c.2907_2911dup
  • NM_001407946.1:c.2715_2719dup
  • NM_001407947.1:c.2715_2719dup
  • NM_001407948.1:c.2715_2719dup
  • NM_001407949.1:c.2715_2719dup
  • NM_001407950.1:c.2715_2719dup
  • NM_001407951.1:c.2715_2719dup
  • NM_001407952.1:c.2715_2719dup
  • NM_001407953.1:c.2715_2719dup
  • NM_001407954.1:c.2712_2716dup
  • NM_001407955.1:c.2712_2716dup
  • NM_001407956.1:c.2712_2716dup
  • NM_001407957.1:c.2715_2719dup
  • NM_001407958.1:c.2712_2716dup
  • NM_001407959.1:c.2667_2671dup
  • NM_001407960.1:c.2667_2671dup
  • NM_001407962.1:c.2664_2668dup
  • NM_001407963.1:c.2667_2671dup
  • NM_001407964.1:c.2904_2908dup
  • NM_001407965.1:c.2544_2548dup
  • NM_001407966.1:c.2160_2164dup
  • NM_001407967.1:c.2160_2164dup
  • NM_001407968.1:c.788-344_788-340dup
  • NM_001407969.1:c.788-344_788-340dup
  • NM_001407970.1:c.788-1451_788-1447dup
  • NM_001407971.1:c.788-1451_788-1447dup
  • NM_001407972.1:c.785-1451_785-1447dup
  • NM_001407973.1:c.788-1451_788-1447dup
  • NM_001407974.1:c.788-1451_788-1447dup
  • NM_001407975.1:c.788-1451_788-1447dup
  • NM_001407976.1:c.788-1451_788-1447dup
  • NM_001407977.1:c.788-1451_788-1447dup
  • NM_001407978.1:c.788-1451_788-1447dup
  • NM_001407979.1:c.788-1451_788-1447dup
  • NM_001407980.1:c.788-1451_788-1447dup
  • NM_001407981.1:c.788-1451_788-1447dup
  • NM_001407982.1:c.788-1451_788-1447dup
  • NM_001407983.1:c.788-1451_788-1447dup
  • NM_001407984.1:c.785-1451_785-1447dup
  • NM_001407985.1:c.785-1451_785-1447dup
  • NM_001407986.1:c.785-1451_785-1447dup
  • NM_001407990.1:c.788-1451_788-1447dup
  • NM_001407991.1:c.785-1451_785-1447dup
  • NM_001407992.1:c.785-1451_785-1447dup
  • NM_001407993.1:c.788-1451_788-1447dup
  • NM_001408392.1:c.785-1451_785-1447dup
  • NM_001408396.1:c.785-1451_785-1447dup
  • NM_001408397.1:c.785-1451_785-1447dup
  • NM_001408398.1:c.785-1451_785-1447dup
  • NM_001408399.1:c.785-1451_785-1447dup
  • NM_001408400.1:c.785-1451_785-1447dup
  • NM_001408401.1:c.785-1451_785-1447dup
  • NM_001408402.1:c.785-1451_785-1447dup
  • NM_001408403.1:c.788-1451_788-1447dup
  • NM_001408404.1:c.788-1451_788-1447dup
  • NM_001408406.1:c.791-1460_791-1456dup
  • NM_001408407.1:c.785-1451_785-1447dup
  • NM_001408408.1:c.779-1451_779-1447dup
  • NM_001408409.1:c.710-1451_710-1447dup
  • NM_001408410.1:c.647-1451_647-1447dup
  • NM_001408411.1:c.710-1451_710-1447dup
  • NM_001408412.1:c.710-1451_710-1447dup
  • NM_001408413.1:c.707-1451_707-1447dup
  • NM_001408414.1:c.710-1451_710-1447dup
  • NM_001408415.1:c.710-1451_710-1447dup
  • NM_001408416.1:c.707-1451_707-1447dup
  • NM_001408418.1:c.671-1451_671-1447dup
  • NM_001408419.1:c.671-1451_671-1447dup
  • NM_001408420.1:c.671-1451_671-1447dup
  • NM_001408421.1:c.668-1451_668-1447dup
  • NM_001408422.1:c.671-1451_671-1447dup
  • NM_001408423.1:c.671-1451_671-1447dup
  • NM_001408424.1:c.668-1451_668-1447dup
  • NM_001408425.1:c.665-1451_665-1447dup
  • NM_001408426.1:c.665-1451_665-1447dup
  • NM_001408427.1:c.665-1451_665-1447dup
  • NM_001408428.1:c.665-1451_665-1447dup
  • NM_001408429.1:c.665-1451_665-1447dup
  • NM_001408430.1:c.665-1451_665-1447dup
  • NM_001408431.1:c.668-1451_668-1447dup
  • NM_001408432.1:c.662-1451_662-1447dup
  • NM_001408433.1:c.662-1451_662-1447dup
  • NM_001408434.1:c.662-1451_662-1447dup
  • NM_001408435.1:c.662-1451_662-1447dup
  • NM_001408436.1:c.665-1451_665-1447dup
  • NM_001408437.1:c.665-1451_665-1447dup
  • NM_001408438.1:c.665-1451_665-1447dup
  • NM_001408439.1:c.665-1451_665-1447dup
  • NM_001408440.1:c.665-1451_665-1447dup
  • NM_001408441.1:c.665-1451_665-1447dup
  • NM_001408442.1:c.665-1451_665-1447dup
  • NM_001408443.1:c.665-1451_665-1447dup
  • NM_001408444.1:c.665-1451_665-1447dup
  • NM_001408445.1:c.662-1451_662-1447dup
  • NM_001408446.1:c.662-1451_662-1447dup
  • NM_001408447.1:c.662-1451_662-1447dup
  • NM_001408448.1:c.662-1451_662-1447dup
  • NM_001408450.1:c.662-1451_662-1447dup
  • NM_001408451.1:c.653-1451_653-1447dup
  • NM_001408452.1:c.647-1451_647-1447dup
  • NM_001408453.1:c.647-1451_647-1447dup
  • NM_001408454.1:c.647-1451_647-1447dup
  • NM_001408455.1:c.647-1451_647-1447dup
  • NM_001408456.1:c.647-1451_647-1447dup
  • NM_001408457.1:c.647-1451_647-1447dup
  • NM_001408458.1:c.647-1451_647-1447dup
  • NM_001408459.1:c.647-1451_647-1447dup
  • NM_001408460.1:c.647-1451_647-1447dup
  • NM_001408461.1:c.647-1451_647-1447dup
  • NM_001408462.1:c.644-1451_644-1447dup
  • NM_001408463.1:c.644-1451_644-1447dup
  • NM_001408464.1:c.644-1451_644-1447dup
  • NM_001408465.1:c.644-1451_644-1447dup
  • NM_001408466.1:c.647-1451_647-1447dup
  • NM_001408467.1:c.647-1451_647-1447dup
  • NM_001408468.1:c.644-1451_644-1447dup
  • NM_001408469.1:c.647-1451_647-1447dup
  • NM_001408470.1:c.644-1451_644-1447dup
  • NM_001408472.1:c.788-1451_788-1447dup
  • NM_001408473.1:c.785-1451_785-1447dup
  • NM_001408474.1:c.587-1451_587-1447dup
  • NM_001408475.1:c.584-1451_584-1447dup
  • NM_001408476.1:c.587-1451_587-1447dup
  • NM_001408478.1:c.578-1451_578-1447dup
  • NM_001408479.1:c.578-1451_578-1447dup
  • NM_001408480.1:c.578-1451_578-1447dup
  • NM_001408481.1:c.578-1451_578-1447dup
  • NM_001408482.1:c.578-1451_578-1447dup
  • NM_001408483.1:c.578-1451_578-1447dup
  • NM_001408484.1:c.578-1451_578-1447dup
  • NM_001408485.1:c.578-1451_578-1447dup
  • NM_001408489.1:c.578-1451_578-1447dup
  • NM_001408490.1:c.575-1451_575-1447dup
  • NM_001408491.1:c.575-1451_575-1447dup
  • NM_001408492.1:c.578-1451_578-1447dup
  • NM_001408493.1:c.575-1451_575-1447dup
  • NM_001408494.1:c.548-1451_548-1447dup
  • NM_001408495.1:c.545-1451_545-1447dup
  • NM_001408496.1:c.524-1451_524-1447dup
  • NM_001408497.1:c.524-1451_524-1447dup
  • NM_001408498.1:c.524-1451_524-1447dup
  • NM_001408499.1:c.524-1451_524-1447dup
  • NM_001408500.1:c.524-1451_524-1447dup
  • NM_001408501.1:c.524-1451_524-1447dup
  • NM_001408502.1:c.455-1451_455-1447dup
  • NM_001408503.1:c.521-1451_521-1447dup
  • NM_001408504.1:c.521-1451_521-1447dup
  • NM_001408505.1:c.521-1451_521-1447dup
  • NM_001408506.1:c.461-1451_461-1447dup
  • NM_001408507.1:c.461-1451_461-1447dup
  • NM_001408508.1:c.452-1451_452-1447dup
  • NM_001408509.1:c.452-1451_452-1447dup
  • NM_001408510.1:c.407-1451_407-1447dup
  • NM_001408511.1:c.404-1451_404-1447dup
  • NM_001408512.1:c.284-1451_284-1447dup
  • NM_001408513.1:c.578-1451_578-1447dup
  • NM_001408514.1:c.578-1451_578-1447dup
  • NM_007294.4:c.3048_3052dupMANE SELECT
  • NM_007297.4:c.2907_2911dup
  • NM_007298.4:c.788-1451_788-1447dup
  • NM_007299.4:c.788-1451_788-1447dup
  • NM_007300.4:c.3048_3052dup
  • NP_001394500.1:p.Asn947fs
  • NP_001394510.1:p.Asn1018fs
  • NP_001394511.1:p.Asn1018fs
  • NP_001394512.1:p.Asn1018fs
  • NP_001394514.1:p.Asn1018fs
  • NP_001394516.1:p.Asn1017fs
  • NP_001394519.1:p.Asn1017fs
  • NP_001394520.1:p.Asn1017fs
  • NP_001394522.1:p.Asn1018fs
  • NP_001394523.1:p.Asn1018fs
  • NP_001394525.1:p.Asn1018fs
  • NP_001394526.1:p.Asn1018fs
  • NP_001394527.1:p.Asn1018fs
  • NP_001394531.1:p.Asn1018fs
  • NP_001394532.1:p.Asn1018fs
  • NP_001394534.1:p.Asn1018fs
  • NP_001394539.1:p.Asn1017fs
  • NP_001394540.1:p.Asn1017fs
  • NP_001394541.1:p.Asn1017fs
  • NP_001394542.1:p.Asn1017fs
  • NP_001394543.1:p.Asn1017fs
  • NP_001394544.1:p.Asn1017fs
  • NP_001394545.1:p.Asn1018fs
  • NP_001394546.1:p.Asn1018fs
  • NP_001394547.1:p.Asn1018fs
  • NP_001394548.1:p.Asn1018fs
  • NP_001394549.1:p.Asn1018fs
  • NP_001394550.1:p.Asn1018fs
  • NP_001394551.1:p.Asn1018fs
  • NP_001394552.1:p.Asn1018fs
  • NP_001394553.1:p.Asn1018fs
  • NP_001394554.1:p.Asn1018fs
  • NP_001394555.1:p.Asn1018fs
  • NP_001394556.1:p.Asn1017fs
  • NP_001394557.1:p.Asn1017fs
  • NP_001394558.1:p.Asn1017fs
  • NP_001394559.1:p.Asn1017fs
  • NP_001394560.1:p.Asn1017fs
  • NP_001394561.1:p.Asn1017fs
  • NP_001394562.1:p.Asn1017fs
  • NP_001394563.1:p.Asn1017fs
  • NP_001394564.1:p.Asn1017fs
  • NP_001394565.1:p.Asn1017fs
  • NP_001394566.1:p.Asn1017fs
  • NP_001394567.1:p.Asn1017fs
  • NP_001394568.1:p.Asn1018fs
  • NP_001394569.1:p.Asn1018fs
  • NP_001394570.1:p.Asn1018fs
  • NP_001394571.1:p.Asn1018fs
  • NP_001394573.1:p.Asn1017fs
  • NP_001394574.1:p.Asn1017fs
  • NP_001394575.1:p.Asn1015fs
  • NP_001394576.1:p.Asn1015fs
  • NP_001394577.1:p.Asn977fs
  • NP_001394578.1:p.Asn976fs
  • NP_001394581.1:p.Asn1018fs
  • NP_001394582.1:p.Asn992fs
  • NP_001394583.1:p.Asn992fs
  • NP_001394584.1:p.Asn992fs
  • NP_001394585.1:p.Asn992fs
  • NP_001394586.1:p.Asn992fs
  • NP_001394587.1:p.Asn992fs
  • NP_001394588.1:p.Asn991fs
  • NP_001394589.1:p.Asn991fs
  • NP_001394590.1:p.Asn991fs
  • NP_001394591.1:p.Asn991fs
  • NP_001394592.1:p.Asn992fs
  • NP_001394593.1:p.Asn977fs
  • NP_001394594.1:p.Asn977fs
  • NP_001394595.1:p.Asn977fs
  • NP_001394596.1:p.Asn977fs
  • NP_001394597.1:p.Asn977fs
  • NP_001394598.1:p.Asn977fs
  • NP_001394599.1:p.Asn976fs
  • NP_001394600.1:p.Asn976fs
  • NP_001394601.1:p.Asn976fs
  • NP_001394602.1:p.Asn976fs
  • NP_001394603.1:p.Asn977fs
  • NP_001394604.1:p.Asn977fs
  • NP_001394605.1:p.Asn977fs
  • NP_001394606.1:p.Asn977fs
  • NP_001394607.1:p.Asn977fs
  • NP_001394608.1:p.Asn977fs
  • NP_001394609.1:p.Asn977fs
  • NP_001394610.1:p.Asn977fs
  • NP_001394611.1:p.Asn977fs
  • NP_001394612.1:p.Asn977fs
  • NP_001394613.1:p.Asn1018fs
  • NP_001394614.1:p.Asn976fs
  • NP_001394615.1:p.Asn976fs
  • NP_001394616.1:p.Asn976fs
  • NP_001394617.1:p.Asn976fs
  • NP_001394618.1:p.Asn976fs
  • NP_001394619.1:p.Asn976fs
  • NP_001394620.1:p.Asn976fs
  • NP_001394621.1:p.Asn971fs
  • NP_001394623.1:p.Asn971fs
  • NP_001394624.1:p.Asn971fs
  • NP_001394625.1:p.Asn971fs
  • NP_001394626.1:p.Asn971fs
  • NP_001394627.1:p.Asn971fs
  • NP_001394653.1:p.Asn971fs
  • NP_001394654.1:p.Asn971fs
  • NP_001394655.1:p.Asn971fs
  • NP_001394656.1:p.Asn971fs
  • NP_001394657.1:p.Asn971fs
  • NP_001394658.1:p.Asn971fs
  • NP_001394659.1:p.Asn971fs
  • NP_001394660.1:p.Asn971fs
  • NP_001394661.1:p.Asn971fs
  • NP_001394662.1:p.Asn971fs
  • NP_001394663.1:p.Asn971fs
  • NP_001394664.1:p.Asn971fs
  • NP_001394665.1:p.Asn971fs
  • NP_001394666.1:p.Asn971fs
  • NP_001394667.1:p.Asn971fs
  • NP_001394668.1:p.Asn971fs
  • NP_001394669.1:p.Asn970fs
  • NP_001394670.1:p.Asn970fs
  • NP_001394671.1:p.Asn970fs
  • NP_001394672.1:p.Asn970fs
  • NP_001394673.1:p.Asn970fs
  • NP_001394674.1:p.Asn970fs
  • NP_001394675.1:p.Asn970fs
  • NP_001394676.1:p.Asn970fs
  • NP_001394677.1:p.Asn970fs
  • NP_001394678.1:p.Asn970fs
  • NP_001394679.1:p.Asn971fs
  • NP_001394680.1:p.Asn971fs
  • NP_001394681.1:p.Asn971fs
  • NP_001394767.1:p.Asn970fs
  • NP_001394768.1:p.Asn970fs
  • NP_001394770.1:p.Asn970fs
  • NP_001394771.1:p.Asn970fs
  • NP_001394772.1:p.Asn970fs
  • NP_001394773.1:p.Asn970fs
  • NP_001394774.1:p.Asn970fs
  • NP_001394775.1:p.Asn970fs
  • NP_001394776.1:p.Asn970fs
  • NP_001394777.1:p.Asn970fs
  • NP_001394778.1:p.Asn970fs
  • NP_001394779.1:p.Asn971fs
  • NP_001394780.1:p.Asn971fs
  • NP_001394781.1:p.Asn971fs
  • NP_001394782.1:p.Asn947fs
  • NP_001394783.1:p.Asn1018fs
  • NP_001394787.1:p.Asn1018fs
  • NP_001394788.1:p.Asn1018fs
  • NP_001394789.1:p.Asn1017fs
  • NP_001394790.1:p.Asn1017fs
  • NP_001394791.1:p.Asn951fs
  • NP_001394792.1:p.Asn977fs
  • NP_001394803.1:p.Asn950fs
  • NP_001394804.1:p.Asn950fs
  • NP_001394808.1:p.Asn948fs
  • NP_001394810.1:p.Asn948fs
  • NP_001394811.1:p.Asn948fs
  • NP_001394813.1:p.Asn948fs
  • NP_001394814.1:p.Asn948fs
  • NP_001394815.1:p.Asn948fs
  • NP_001394816.1:p.Asn948fs
  • NP_001394818.1:p.Asn948fs
  • NP_001394823.1:p.Asn947fs
  • NP_001394824.1:p.Asn947fs
  • NP_001394825.1:p.Asn947fs
  • NP_001394826.1:p.Asn947fs
  • NP_001394827.1:p.Asn947fs
  • NP_001394828.1:p.Asn947fs
  • NP_001394829.1:p.Asn948fs
  • NP_001394831.1:p.Asn948fs
  • NP_001394833.1:p.Asn948fs
  • NP_001394835.1:p.Asn948fs
  • NP_001394836.1:p.Asn948fs
  • NP_001394837.1:p.Asn948fs
  • NP_001394838.1:p.Asn948fs
  • NP_001394839.1:p.Asn948fs
  • NP_001394844.1:p.Asn947fs
  • NP_001394845.1:p.Asn947fs
  • NP_001394846.1:p.Asn947fs
  • NP_001394847.1:p.Asn947fs
  • NP_001394848.1:p.Asn977fs
  • NP_001394849.1:p.Asn930fs
  • NP_001394850.1:p.Asn930fs
  • NP_001394851.1:p.Asn930fs
  • NP_001394852.1:p.Asn930fs
  • NP_001394853.1:p.Asn930fs
  • NP_001394854.1:p.Asn930fs
  • NP_001394855.1:p.Asn930fs
  • NP_001394856.1:p.Asn930fs
  • NP_001394857.1:p.Asn930fs
  • NP_001394858.1:p.Asn930fs
  • NP_001394859.1:p.Asn929fs
  • NP_001394860.1:p.Asn929fs
  • NP_001394861.1:p.Asn929fs
  • NP_001394862.1:p.Asn930fs
  • NP_001394863.1:p.Asn929fs
  • NP_001394864.1:p.Asn930fs
  • NP_001394865.1:p.Asn929fs
  • NP_001394866.1:p.Asn977fs
  • NP_001394867.1:p.Asn977fs
  • NP_001394868.1:p.Asn977fs
  • NP_001394869.1:p.Asn976fs
  • NP_001394870.1:p.Asn976fs
  • NP_001394871.1:p.Asn971fs
  • NP_001394872.1:p.Asn970fs
  • NP_001394873.1:p.Asn971fs
  • NP_001394874.1:p.Asn971fs
  • NP_001394875.1:p.Asn907fs
  • NP_001394876.1:p.Asn907fs
  • NP_001394877.1:p.Asn907fs
  • NP_001394878.1:p.Asn907fs
  • NP_001394879.1:p.Asn907fs
  • NP_001394880.1:p.Asn907fs
  • NP_001394881.1:p.Asn907fs
  • NP_001394882.1:p.Asn907fs
  • NP_001394883.1:p.Asn906fs
  • NP_001394884.1:p.Asn906fs
  • NP_001394885.1:p.Asn906fs
  • NP_001394886.1:p.Asn907fs
  • NP_001394887.1:p.Asn906fs
  • NP_001394888.1:p.Asn891fs
  • NP_001394889.1:p.Asn891fs
  • NP_001394891.1:p.Asn890fs
  • NP_001394892.1:p.Asn891fs
  • NP_001394893.1:p.Asn970fs
  • NP_001394894.1:p.Asn850fs
  • NP_001394895.1:p.Asn722fs
  • NP_001394896.1:p.Asn722fs
  • NP_009225.1:p.Asn1018Metfs
  • NP_009225.1:p.Asn1018fs
  • NP_009228.2:p.Asn971fs
  • NP_009231.2:p.Asn1018fs
  • LRG_292t1:c.3047_3051dup
  • LRG_292:g.125501_125505dup
  • LRG_292p1:p.Asn1018Metfs
  • NC_000017.10:g.41244497_41244501dup
  • NC_000017.10:g.41244497_41244501dup
  • NC_000017.11:g.43092478_43092479insTCTCA
  • NM_007294.3:c.3047_3051dup
  • NM_007294.3:c.3048_3052dupTGAGA
  • NM_007294.4:c.3048_3052dupTGAGA
  • NR_027676.1:n.3183_3187dup
  • U14680.1:c.3052_3053insTGAGA
  • U14680.1:n.3171_3172insTGAGA
  • p.Asn1018Metfs*8
  • p.Asn1018fs
  • p.N1018MFS*8
  • p.N1018MfsX8
Protein change:
N1015fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3166&base_change=ins TGAGA; Breast Cancer Information Core (BIC) (BRCA1): 3171&base_change=ins TGAGA; OMIM: 113705.0033; dbSNP: rs80357856
NCBI 1000 Genomes Browser:
rs80357856
Molecular consequence:
  • NM_001407571.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3039_3043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3039_3043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2967_2971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2967_2971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2967_2971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2967_2971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2970_2974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3045_3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2847_2851dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2844_2848dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2844_2848dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2838_2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2835_2839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2781_2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2781_2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2781_2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2781_2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2784_2788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2781_2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2925_2929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2922_2926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2712_2716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2712_2716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2712_2716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2715_2719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2712_2716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2667_2671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2667_2671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2664_2668dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2667_2671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2904_2908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2544_2548dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2160_2164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2160_2164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2907_2911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3048_3052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-344_788-340dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-344_788-340dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1460_791-1456dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1451_779-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1451_710-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1451_710-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1451_710-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1451_707-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1451_710-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1451_710-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1451_707-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1451_671-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1451_671-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1451_671-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1451_668-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1451_671-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1451_671-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1451_668-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1451_668-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1451_665-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1451_662-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1451_653-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1451_647-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1451_644-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1451_785-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1451_587-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1451_584-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1451_587-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1451_575-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1451_575-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1451_575-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1451_548-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1451_545-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1451_524-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1451_455-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1451_521-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1451_521-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1451_521-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1451_461-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1451_461-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1451_452-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1451_452-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1451_407-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1451_404-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1451_284-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1451_578-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1451_788-1447dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591422Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591422.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

The p.Asn1018MetfsX8 variant was identified in the literature in 6 of 1714 proband chromosomes (frequency: 0.003) from individuals or families with Breast and Ovarian cancers (Hakansson 1997, Thomassen 2008, Kainu 1996, Bergman 2001). The variant was identified in dbSNP (ID: rs80357856) “With pathogenic allele”. In the Exome Aggregation Consortium (ExAC) database the variant was identified in 4 of 66706 European (Non-Finnish) alleles (frequency 6 x 10-5.) The variant was also identified in LOVD 2x classified as pathogenic; the ClinVar database (classified as a pathogenic variant by Ambry Genetics, GeneDx, Pathway Genetics, OMIM, Invitae and BIC); in the BIC database (46x with clinical importance, class 5 definitely pathogenic); in UMD (1x as a class 5 causal variant). In Clinvitae the variant was identified 5x as pathogenic The c.3048_3052dupTGAGA variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The p.Asn1018MetfsX8 duplication variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1018 and leads to a premature stop codon 8 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 26, 2024