NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: May 13, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000048059.26

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]

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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Homo sapiens leucine carboxyl methyltransferase 2, mRNA (cDNA clone MGC:9534 IMA...
Homo sapiens leucine carboxyl methyltransferase 2, mRNA (cDNA clone MGC:9534 IMAGE:3922888), complete cds
gi|34194114|gb|BC015949.2|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076072	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 19, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20104584, 24504028, 11781691, 15951958, 20151938, 28492532
SCV000587274	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV004848367	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 19, 2020)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 29339979, 11781691, 15951958, 8644702, 24504028, 18465347, 27836010, 29446198, 9150154, 18559594, 11576847, 7837387, 25741868
SCV005184838	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (May 13, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18465347, 24728189, 7837387, 24240112 Citation Link

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Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

BRCA1 gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer - a population based study from the Western Sweden Health Care region.

Einbeigi Z, Enerbäck C, Wallgren A, Nordling M, Karlsson P.

Acta Oncol. 2010 Apr;49(3):361-7. doi: 10.3109/02841860903521095.

PubMed [citation]

PMID:: 20151938

See all PubMed Citations (18)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076072.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Asn1018Metfs*8) 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). This variant is present in population databases (rs80357856, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11781691, 15951958, 20151938, 24504028). It is commonly reported in individuals of Western Swedish ancestry (PMID: 11781691, 15951958, 20151938). This variant is also known as 3171ins5. ClinVar contains an entry for this variant (Variation ID: 54763). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587274.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848367.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (13)

Description

The p.Asn1018MetfsX8 variant in BRCA1 has been reported in >40 Caucasian individuals with BRCA1-associated cancers and segregated with disease in > 15 affected relatives (initial description by Shattuck-Eidens 1995 PMID: 7837387). It has also been identified in 0.004% (4/113524) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant was classified as pathogenic on 10/18/16 by the ClinGen-approved ENIGMA expert panel (Variation ID 54763). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1018 and leads to a premature termination codon 8 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant HBOC. This variant has been characterized by haplotype mapping as a founder mutation in western Sweden, accounting for a majority of BRCA1 variants identified in the region (Bergman 2005 PMID: 15951958). Additional variants involving this codon (c.3052_3053ins5; c.3049_3050ins7; c.3049G>T, p.Glu1017Ter) have been identified in individuals with HBOC and are classified as pathogenic by ClinVar. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant hereditary breast and ovarian cancer. ACMG/AMP Criteria applied: PVS1, PM2, PS4, PP1_Strong.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005184838.1

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

Description

Variant summary: BRCA1 c.3048_3052dupTGAGA (p.Asn1018MetfsX8) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 254200 control chromosomes. c.3048_3052dupTGAGA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: , 18465347, 24728189, 7837387, 24240112). ClinVar contains an entry for this variant (Variation ID: 54763). Based on the evidence outlined above, the variant was classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine