NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 17, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000048040.20
Allele description [Variation Report for NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)]
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
- HGVS:
- NC_000017.10:g.41244539_41244540del
- NC_000017.11:g.43092523_43092524del
- NG_005905.2:g.125461_125462del
- NM_001407571.1:c.2795_2796del
- NM_001407581.1:c.3008_3009del
- NM_001407582.1:c.3008_3009del
- NM_001407583.1:c.3008_3009del
- NM_001407585.1:c.3008_3009del
- NM_001407587.1:c.3005_3006del
- NM_001407590.1:c.3005_3006del
- NM_001407591.1:c.3005_3006del
- NM_001407593.1:c.3008_3009del
- NM_001407594.1:c.3008_3009del
- NM_001407596.1:c.3008_3009del
- NM_001407597.1:c.3008_3009del
- NM_001407598.1:c.3008_3009del
- NM_001407602.1:c.3008_3009del
- NM_001407603.1:c.3008_3009del
- NM_001407605.1:c.3008_3009del
- NM_001407610.1:c.3005_3006del
- NM_001407611.1:c.3005_3006del
- NM_001407612.1:c.3005_3006del
- NM_001407613.1:c.3005_3006del
- NM_001407614.1:c.3005_3006del
- NM_001407615.1:c.3005_3006del
- NM_001407616.1:c.3008_3009del
- NM_001407617.1:c.3008_3009del
- NM_001407618.1:c.3008_3009del
- NM_001407619.1:c.3008_3009del
- NM_001407620.1:c.3008_3009del
- NM_001407621.1:c.3008_3009del
- NM_001407622.1:c.3008_3009del
- NM_001407623.1:c.3008_3009del
- NM_001407624.1:c.3008_3009del
- NM_001407625.1:c.3008_3009del
- NM_001407626.1:c.3008_3009del
- NM_001407627.1:c.3005_3006del
- NM_001407628.1:c.3005_3006del
- NM_001407629.1:c.3005_3006del
- NM_001407630.1:c.3005_3006del
- NM_001407631.1:c.3005_3006del
- NM_001407632.1:c.3005_3006del
- NM_001407633.1:c.3005_3006del
- NM_001407634.1:c.3005_3006del
- NM_001407635.1:c.3005_3006del
- NM_001407636.1:c.3005_3006del
- NM_001407637.1:c.3005_3006del
- NM_001407638.1:c.3005_3006del
- NM_001407639.1:c.3008_3009del
- NM_001407640.1:c.3008_3009del
- NM_001407641.1:c.3008_3009del
- NM_001407642.1:c.3008_3009del
- NM_001407644.1:c.3005_3006del
- NM_001407645.1:c.3005_3006del
- NM_001407646.1:c.2999_3000del
- NM_001407647.1:c.2999_3000del
- NM_001407648.1:c.2885_2886del
- NM_001407649.1:c.2882_2883del
- NM_001407652.1:c.3008_3009del
- NM_001407653.1:c.2930_2931del
- NM_001407654.1:c.2930_2931del
- NM_001407655.1:c.2930_2931del
- NM_001407656.1:c.2930_2931del
- NM_001407657.1:c.2930_2931del
- NM_001407658.1:c.2930_2931del
- NM_001407659.1:c.2927_2928del
- NM_001407660.1:c.2927_2928del
- NM_001407661.1:c.2927_2928del
- NM_001407662.1:c.2927_2928del
- NM_001407663.1:c.2930_2931del
- NM_001407664.1:c.2885_2886del
- NM_001407665.1:c.2885_2886del
- NM_001407666.1:c.2885_2886del
- NM_001407667.1:c.2885_2886del
- NM_001407668.1:c.2885_2886del
- NM_001407669.1:c.2885_2886del
- NM_001407670.1:c.2882_2883del
- NM_001407671.1:c.2882_2883del
- NM_001407672.1:c.2882_2883del
- NM_001407673.1:c.2882_2883del
- NM_001407674.1:c.2885_2886del
- NM_001407675.1:c.2885_2886del
- NM_001407676.1:c.2885_2886del
- NM_001407677.1:c.2885_2886del
- NM_001407678.1:c.2885_2886del
- NM_001407679.1:c.2885_2886del
- NM_001407680.1:c.2885_2886del
- NM_001407681.1:c.2885_2886del
- NM_001407682.1:c.2885_2886del
- NM_001407683.1:c.2885_2886del
- NM_001407684.1:c.3008_3009del
- NM_001407685.1:c.2882_2883del
- NM_001407686.1:c.2882_2883del
- NM_001407687.1:c.2882_2883del
- NM_001407688.1:c.2882_2883del
- NM_001407689.1:c.2882_2883del
- NM_001407690.1:c.2882_2883del
- NM_001407691.1:c.2882_2883del
- NM_001407692.1:c.2867_2868del
- NM_001407694.1:c.2867_2868del
- NM_001407695.1:c.2867_2868del
- NM_001407696.1:c.2867_2868del
- NM_001407697.1:c.2867_2868del
- NM_001407698.1:c.2867_2868del
- NM_001407724.1:c.2867_2868del
- NM_001407725.1:c.2867_2868del
- NM_001407726.1:c.2867_2868del
- NM_001407727.1:c.2867_2868del
- NM_001407728.1:c.2867_2868del
- NM_001407729.1:c.2867_2868del
- NM_001407730.1:c.2867_2868del
- NM_001407731.1:c.2867_2868del
- NM_001407732.1:c.2867_2868del
- NM_001407733.1:c.2867_2868del
- NM_001407734.1:c.2867_2868del
- NM_001407735.1:c.2867_2868del
- NM_001407736.1:c.2867_2868del
- NM_001407737.1:c.2867_2868del
- NM_001407738.1:c.2867_2868del
- NM_001407739.1:c.2867_2868del
- NM_001407740.1:c.2864_2865del
- NM_001407741.1:c.2864_2865del
- NM_001407742.1:c.2864_2865del
- NM_001407743.1:c.2864_2865del
- NM_001407744.1:c.2864_2865del
- NM_001407745.1:c.2864_2865del
- NM_001407746.1:c.2864_2865del
- NM_001407747.1:c.2864_2865del
- NM_001407748.1:c.2864_2865del
- NM_001407749.1:c.2864_2865del
- NM_001407750.1:c.2867_2868del
- NM_001407751.1:c.2867_2868del
- NM_001407752.1:c.2867_2868del
- NM_001407838.1:c.2864_2865del
- NM_001407839.1:c.2864_2865del
- NM_001407841.1:c.2864_2865del
- NM_001407842.1:c.2864_2865del
- NM_001407843.1:c.2864_2865del
- NM_001407844.1:c.2864_2865del
- NM_001407845.1:c.2864_2865del
- NM_001407846.1:c.2864_2865del
- NM_001407847.1:c.2864_2865del
- NM_001407848.1:c.2864_2865del
- NM_001407849.1:c.2864_2865del
- NM_001407850.1:c.2867_2868del
- NM_001407851.1:c.2867_2868del
- NM_001407852.1:c.2867_2868del
- NM_001407853.1:c.2795_2796del
- NM_001407854.1:c.3008_3009del
- NM_001407858.1:c.3008_3009del
- NM_001407859.1:c.3008_3009del
- NM_001407860.1:c.3005_3006del
- NM_001407861.1:c.3005_3006del
- NM_001407862.1:c.2807_2808del
- NM_001407863.1:c.2885_2886del
- NM_001407874.1:c.2804_2805del
- NM_001407875.1:c.2804_2805del
- NM_001407879.1:c.2798_2799del
- NM_001407881.1:c.2798_2799del
- NM_001407882.1:c.2798_2799del
- NM_001407884.1:c.2798_2799del
- NM_001407885.1:c.2798_2799del
- NM_001407886.1:c.2798_2799del
- NM_001407887.1:c.2798_2799del
- NM_001407889.1:c.2798_2799del
- NM_001407894.1:c.2795_2796del
- NM_001407895.1:c.2795_2796del
- NM_001407896.1:c.2795_2796del
- NM_001407897.1:c.2795_2796del
- NM_001407898.1:c.2795_2796del
- NM_001407899.1:c.2795_2796del
- NM_001407900.1:c.2798_2799del
- NM_001407902.1:c.2798_2799del
- NM_001407904.1:c.2798_2799del
- NM_001407906.1:c.2798_2799del
- NM_001407907.1:c.2798_2799del
- NM_001407908.1:c.2798_2799del
- NM_001407909.1:c.2798_2799del
- NM_001407910.1:c.2798_2799del
- NM_001407915.1:c.2795_2796del
- NM_001407916.1:c.2795_2796del
- NM_001407917.1:c.2795_2796del
- NM_001407918.1:c.2795_2796del
- NM_001407919.1:c.2885_2886del
- NM_001407920.1:c.2744_2745del
- NM_001407921.1:c.2744_2745del
- NM_001407922.1:c.2744_2745del
- NM_001407923.1:c.2744_2745del
- NM_001407924.1:c.2744_2745del
- NM_001407925.1:c.2744_2745del
- NM_001407926.1:c.2744_2745del
- NM_001407927.1:c.2744_2745del
- NM_001407928.1:c.2744_2745del
- NM_001407929.1:c.2744_2745del
- NM_001407930.1:c.2741_2742del
- NM_001407931.1:c.2741_2742del
- NM_001407932.1:c.2741_2742del
- NM_001407933.1:c.2744_2745del
- NM_001407934.1:c.2741_2742del
- NM_001407935.1:c.2744_2745del
- NM_001407936.1:c.2741_2742del
- NM_001407937.1:c.2885_2886del
- NM_001407938.1:c.2885_2886del
- NM_001407939.1:c.2885_2886del
- NM_001407940.1:c.2882_2883del
- NM_001407941.1:c.2882_2883del
- NM_001407942.1:c.2867_2868del
- NM_001407943.1:c.2864_2865del
- NM_001407944.1:c.2867_2868del
- NM_001407945.1:c.2867_2868del
- NM_001407946.1:c.2675_2676del
- NM_001407947.1:c.2675_2676del
- NM_001407948.1:c.2675_2676del
- NM_001407949.1:c.2675_2676del
- NM_001407950.1:c.2675_2676del
- NM_001407951.1:c.2675_2676del
- NM_001407952.1:c.2675_2676del
- NM_001407953.1:c.2675_2676del
- NM_001407954.1:c.2672_2673del
- NM_001407955.1:c.2672_2673del
- NM_001407956.1:c.2672_2673del
- NM_001407957.1:c.2675_2676del
- NM_001407958.1:c.2672_2673del
- NM_001407959.1:c.2627_2628del
- NM_001407960.1:c.2627_2628del
- NM_001407962.1:c.2624_2625del
- NM_001407963.1:c.2627_2628del
- NM_001407964.1:c.2864_2865del
- NM_001407965.1:c.2504_2505del
- NM_001407966.1:c.2120_2121del
- NM_001407967.1:c.2120_2121del
- NM_001407968.1:c.788-384_788-383del
- NM_001407969.1:c.788-384_788-383del
- NM_001407970.1:c.788-1491_788-1490del
- NM_001407971.1:c.788-1491_788-1490del
- NM_001407972.1:c.785-1491_785-1490del
- NM_001407973.1:c.788-1491_788-1490del
- NM_001407974.1:c.788-1491_788-1490del
- NM_001407975.1:c.788-1491_788-1490del
- NM_001407976.1:c.788-1491_788-1490del
- NM_001407977.1:c.788-1491_788-1490del
- NM_001407978.1:c.788-1491_788-1490del
- NM_001407979.1:c.788-1491_788-1490del
- NM_001407980.1:c.788-1491_788-1490del
- NM_001407981.1:c.788-1491_788-1490del
- NM_001407982.1:c.788-1491_788-1490del
- NM_001407983.1:c.788-1491_788-1490del
- NM_001407984.1:c.785-1491_785-1490del
- NM_001407985.1:c.785-1491_785-1490del
- NM_001407986.1:c.785-1491_785-1490del
- NM_001407990.1:c.788-1491_788-1490del
- NM_001407991.1:c.785-1491_785-1490del
- NM_001407992.1:c.785-1491_785-1490del
- NM_001407993.1:c.788-1491_788-1490del
- NM_001408392.1:c.785-1491_785-1490del
- NM_001408396.1:c.785-1491_785-1490del
- NM_001408397.1:c.785-1491_785-1490del
- NM_001408398.1:c.785-1491_785-1490del
- NM_001408399.1:c.785-1491_785-1490del
- NM_001408400.1:c.785-1491_785-1490del
- NM_001408401.1:c.785-1491_785-1490del
- NM_001408402.1:c.785-1491_785-1490del
- NM_001408403.1:c.788-1491_788-1490del
- NM_001408404.1:c.788-1491_788-1490del
- NM_001408406.1:c.791-1500_791-1499del
- NM_001408407.1:c.785-1491_785-1490del
- NM_001408408.1:c.779-1491_779-1490del
- NM_001408409.1:c.710-1491_710-1490del
- NM_001408410.1:c.647-1491_647-1490del
- NM_001408411.1:c.710-1491_710-1490del
- NM_001408412.1:c.710-1491_710-1490del
- NM_001408413.1:c.707-1491_707-1490del
- NM_001408414.1:c.710-1491_710-1490del
- NM_001408415.1:c.710-1491_710-1490del
- NM_001408416.1:c.707-1491_707-1490del
- NM_001408418.1:c.671-1491_671-1490del
- NM_001408419.1:c.671-1491_671-1490del
- NM_001408420.1:c.671-1491_671-1490del
- NM_001408421.1:c.668-1491_668-1490del
- NM_001408422.1:c.671-1491_671-1490del
- NM_001408423.1:c.671-1491_671-1490del
- NM_001408424.1:c.668-1491_668-1490del
- NM_001408425.1:c.665-1491_665-1490del
- NM_001408426.1:c.665-1491_665-1490del
- NM_001408427.1:c.665-1491_665-1490del
- NM_001408428.1:c.665-1491_665-1490del
- NM_001408429.1:c.665-1491_665-1490del
- NM_001408430.1:c.665-1491_665-1490del
- NM_001408431.1:c.668-1491_668-1490del
- NM_001408432.1:c.662-1491_662-1490del
- NM_001408433.1:c.662-1491_662-1490del
- NM_001408434.1:c.662-1491_662-1490del
- NM_001408435.1:c.662-1491_662-1490del
- NM_001408436.1:c.665-1491_665-1490del
- NM_001408437.1:c.665-1491_665-1490del
- NM_001408438.1:c.665-1491_665-1490del
- NM_001408439.1:c.665-1491_665-1490del
- NM_001408440.1:c.665-1491_665-1490del
- NM_001408441.1:c.665-1491_665-1490del
- NM_001408442.1:c.665-1491_665-1490del
- NM_001408443.1:c.665-1491_665-1490del
- NM_001408444.1:c.665-1491_665-1490del
- NM_001408445.1:c.662-1491_662-1490del
- NM_001408446.1:c.662-1491_662-1490del
- NM_001408447.1:c.662-1491_662-1490del
- NM_001408448.1:c.662-1491_662-1490del
- NM_001408450.1:c.662-1491_662-1490del
- NM_001408451.1:c.653-1491_653-1490del
- NM_001408452.1:c.647-1491_647-1490del
- NM_001408453.1:c.647-1491_647-1490del
- NM_001408454.1:c.647-1491_647-1490del
- NM_001408455.1:c.647-1491_647-1490del
- NM_001408456.1:c.647-1491_647-1490del
- NM_001408457.1:c.647-1491_647-1490del
- NM_001408458.1:c.647-1491_647-1490del
- NM_001408459.1:c.647-1491_647-1490del
- NM_001408460.1:c.647-1491_647-1490del
- NM_001408461.1:c.647-1491_647-1490del
- NM_001408462.1:c.644-1491_644-1490del
- NM_001408463.1:c.644-1491_644-1490del
- NM_001408464.1:c.644-1491_644-1490del
- NM_001408465.1:c.644-1491_644-1490del
- NM_001408466.1:c.647-1491_647-1490del
- NM_001408467.1:c.647-1491_647-1490del
- NM_001408468.1:c.644-1491_644-1490del
- NM_001408469.1:c.647-1491_647-1490del
- NM_001408470.1:c.644-1491_644-1490del
- NM_001408472.1:c.788-1491_788-1490del
- NM_001408473.1:c.785-1491_785-1490del
- NM_001408474.1:c.587-1491_587-1490del
- NM_001408475.1:c.584-1491_584-1490del
- NM_001408476.1:c.587-1491_587-1490del
- NM_001408478.1:c.578-1491_578-1490del
- NM_001408479.1:c.578-1491_578-1490del
- NM_001408480.1:c.578-1491_578-1490del
- NM_001408481.1:c.578-1491_578-1490del
- NM_001408482.1:c.578-1491_578-1490del
- NM_001408483.1:c.578-1491_578-1490del
- NM_001408484.1:c.578-1491_578-1490del
- NM_001408485.1:c.578-1491_578-1490del
- NM_001408489.1:c.578-1491_578-1490del
- NM_001408490.1:c.575-1491_575-1490del
- NM_001408491.1:c.575-1491_575-1490del
- NM_001408492.1:c.578-1491_578-1490del
- NM_001408493.1:c.575-1491_575-1490del
- NM_001408494.1:c.548-1491_548-1490del
- NM_001408495.1:c.545-1491_545-1490del
- NM_001408496.1:c.524-1491_524-1490del
- NM_001408497.1:c.524-1491_524-1490del
- NM_001408498.1:c.524-1491_524-1490del
- NM_001408499.1:c.524-1491_524-1490del
- NM_001408500.1:c.524-1491_524-1490del
- NM_001408501.1:c.524-1491_524-1490del
- NM_001408502.1:c.455-1491_455-1490del
- NM_001408503.1:c.521-1491_521-1490del
- NM_001408504.1:c.521-1491_521-1490del
- NM_001408505.1:c.521-1491_521-1490del
- NM_001408506.1:c.461-1491_461-1490del
- NM_001408507.1:c.461-1491_461-1490del
- NM_001408508.1:c.452-1491_452-1490del
- NM_001408509.1:c.452-1491_452-1490del
- NM_001408510.1:c.407-1491_407-1490del
- NM_001408511.1:c.404-1491_404-1490del
- NM_001408512.1:c.284-1491_284-1490del
- NM_001408513.1:c.578-1491_578-1490del
- NM_001408514.1:c.578-1491_578-1490del
- NM_007294.4:c.3008_3009delMANE SELECT
- NM_007297.4:c.2867_2868del
- NM_007298.4:c.788-1491_788-1490del
- NM_007299.4:c.788-1491_788-1490del
- NM_007300.4:c.3008_3009del
- NP_001394500.1:p.Asn931_Phe932insTer
- NP_001394510.1:p.Asn1002_Phe1003insTer
- NP_001394511.1:p.Asn1002_Phe1003insTer
- NP_001394512.1:p.Asn1002_Phe1003insTer
- NP_001394514.1:p.Asn1002_Phe1003insTer
- NP_001394516.1:p.Asn1001_Phe1002insTer
- NP_001394519.1:p.Asn1001_Phe1002insTer
- NP_001394520.1:p.Asn1001_Phe1002insTer
- NP_001394522.1:p.Asn1002_Phe1003insTer
- NP_001394523.1:p.Asn1002_Phe1003insTer
- NP_001394525.1:p.Asn1002_Phe1003insTer
- NP_001394526.1:p.Asn1002_Phe1003insTer
- NP_001394527.1:p.Asn1002_Phe1003insTer
- NP_001394531.1:p.Asn1002_Phe1003insTer
- NP_001394532.1:p.Asn1002_Phe1003insTer
- NP_001394534.1:p.Asn1002_Phe1003insTer
- NP_001394539.1:p.Asn1001_Phe1002insTer
- NP_001394540.1:p.Asn1001_Phe1002insTer
- NP_001394541.1:p.Asn1001_Phe1002insTer
- NP_001394542.1:p.Asn1001_Phe1002insTer
- NP_001394543.1:p.Asn1001_Phe1002insTer
- NP_001394544.1:p.Asn1001_Phe1002insTer
- NP_001394545.1:p.Asn1002_Phe1003insTer
- NP_001394546.1:p.Asn1002_Phe1003insTer
- NP_001394547.1:p.Asn1002_Phe1003insTer
- NP_001394548.1:p.Asn1002_Phe1003insTer
- NP_001394549.1:p.Asn1002_Phe1003insTer
- NP_001394550.1:p.Asn1002_Phe1003insTer
- NP_001394551.1:p.Asn1002_Phe1003insTer
- NP_001394552.1:p.Asn1002_Phe1003insTer
- NP_001394553.1:p.Asn1002_Phe1003insTer
- NP_001394554.1:p.Asn1002_Phe1003insTer
- NP_001394555.1:p.Asn1002_Phe1003insTer
- NP_001394556.1:p.Asn1001_Phe1002insTer
- NP_001394557.1:p.Asn1001_Phe1002insTer
- NP_001394558.1:p.Asn1001_Phe1002insTer
- NP_001394559.1:p.Asn1001_Phe1002insTer
- NP_001394560.1:p.Asn1001_Phe1002insTer
- NP_001394561.1:p.Asn1001_Phe1002insTer
- NP_001394562.1:p.Asn1001_Phe1002insTer
- NP_001394563.1:p.Asn1001_Phe1002insTer
- NP_001394564.1:p.Asn1001_Phe1002insTer
- NP_001394565.1:p.Asn1001_Phe1002insTer
- NP_001394566.1:p.Asn1001_Phe1002insTer
- NP_001394567.1:p.Asn1001_Phe1002insTer
- NP_001394568.1:p.Asn1002_Phe1003insTer
- NP_001394569.1:p.Asn1002_Phe1003insTer
- NP_001394570.1:p.Asn1002_Phe1003insTer
- NP_001394571.1:p.Asn1002_Phe1003insTer
- NP_001394573.1:p.Asn1001_Phe1002insTer
- NP_001394574.1:p.Asn1001_Phe1002insTer
- NP_001394575.1:p.Asn999_Phe1000insTer
- NP_001394576.1:p.Asn999_Phe1000insTer
- NP_001394577.1:p.Asn961_Phe962insTer
- NP_001394578.1:p.Asn960_Phe961insTer
- NP_001394581.1:p.Asn1002_Phe1003insTer
- NP_001394582.1:p.Asn976_Phe977insTer
- NP_001394583.1:p.Asn976_Phe977insTer
- NP_001394584.1:p.Asn976_Phe977insTer
- NP_001394585.1:p.Asn976_Phe977insTer
- NP_001394586.1:p.Asn976_Phe977insTer
- NP_001394587.1:p.Asn976_Phe977insTer
- NP_001394588.1:p.Asn975_Phe976insTer
- NP_001394589.1:p.Asn975_Phe976insTer
- NP_001394590.1:p.Asn975_Phe976insTer
- NP_001394591.1:p.Asn975_Phe976insTer
- NP_001394592.1:p.Asn976_Phe977insTer
- NP_001394593.1:p.Asn961_Phe962insTer
- NP_001394594.1:p.Asn961_Phe962insTer
- NP_001394595.1:p.Asn961_Phe962insTer
- NP_001394596.1:p.Asn961_Phe962insTer
- NP_001394597.1:p.Asn961_Phe962insTer
- NP_001394598.1:p.Asn961_Phe962insTer
- NP_001394599.1:p.Asn960_Phe961insTer
- NP_001394600.1:p.Asn960_Phe961insTer
- NP_001394601.1:p.Asn960_Phe961insTer
- NP_001394602.1:p.Asn960_Phe961insTer
- NP_001394603.1:p.Asn961_Phe962insTer
- NP_001394604.1:p.Asn961_Phe962insTer
- NP_001394605.1:p.Asn961_Phe962insTer
- NP_001394606.1:p.Asn961_Phe962insTer
- NP_001394607.1:p.Asn961_Phe962insTer
- NP_001394608.1:p.Asn961_Phe962insTer
- NP_001394609.1:p.Asn961_Phe962insTer
- NP_001394610.1:p.Asn961_Phe962insTer
- NP_001394611.1:p.Asn961_Phe962insTer
- NP_001394612.1:p.Asn961_Phe962insTer
- NP_001394613.1:p.Asn1002_Phe1003insTer
- NP_001394614.1:p.Asn960_Phe961insTer
- NP_001394615.1:p.Asn960_Phe961insTer
- NP_001394616.1:p.Asn960_Phe961insTer
- NP_001394617.1:p.Asn960_Phe961insTer
- NP_001394618.1:p.Asn960_Phe961insTer
- NP_001394619.1:p.Asn960_Phe961insTer
- NP_001394620.1:p.Asn960_Phe961insTer
- NP_001394621.1:p.Asn955_Phe956insTer
- NP_001394623.1:p.Asn955_Phe956insTer
- NP_001394624.1:p.Asn955_Phe956insTer
- NP_001394625.1:p.Asn955_Phe956insTer
- NP_001394626.1:p.Asn955_Phe956insTer
- NP_001394627.1:p.Asn955_Phe956insTer
- NP_001394653.1:p.Asn955_Phe956insTer
- NP_001394654.1:p.Asn955_Phe956insTer
- NP_001394655.1:p.Asn955_Phe956insTer
- NP_001394656.1:p.Asn955_Phe956insTer
- NP_001394657.1:p.Asn955_Phe956insTer
- NP_001394658.1:p.Asn955_Phe956insTer
- NP_001394659.1:p.Asn955_Phe956insTer
- NP_001394660.1:p.Asn955_Phe956insTer
- NP_001394661.1:p.Asn955_Phe956insTer
- NP_001394662.1:p.Asn955_Phe956insTer
- NP_001394663.1:p.Asn955_Phe956insTer
- NP_001394664.1:p.Asn955_Phe956insTer
- NP_001394665.1:p.Asn955_Phe956insTer
- NP_001394666.1:p.Asn955_Phe956insTer
- NP_001394667.1:p.Asn955_Phe956insTer
- NP_001394668.1:p.Asn955_Phe956insTer
- NP_001394669.1:p.Asn954_Phe955insTer
- NP_001394670.1:p.Asn954_Phe955insTer
- NP_001394671.1:p.Asn954_Phe955insTer
- NP_001394672.1:p.Asn954_Phe955insTer
- NP_001394673.1:p.Asn954_Phe955insTer
- NP_001394674.1:p.Asn954_Phe955insTer
- NP_001394675.1:p.Asn954_Phe955insTer
- NP_001394676.1:p.Asn954_Phe955insTer
- NP_001394677.1:p.Asn954_Phe955insTer
- NP_001394678.1:p.Asn954_Phe955insTer
- NP_001394679.1:p.Asn955_Phe956insTer
- NP_001394680.1:p.Asn955_Phe956insTer
- NP_001394681.1:p.Asn955_Phe956insTer
- NP_001394767.1:p.Asn954_Phe955insTer
- NP_001394768.1:p.Asn954_Phe955insTer
- NP_001394770.1:p.Asn954_Phe955insTer
- NP_001394771.1:p.Asn954_Phe955insTer
- NP_001394772.1:p.Asn954_Phe955insTer
- NP_001394773.1:p.Asn954_Phe955insTer
- NP_001394774.1:p.Asn954_Phe955insTer
- NP_001394775.1:p.Asn954_Phe955insTer
- NP_001394776.1:p.Asn954_Phe955insTer
- NP_001394777.1:p.Asn954_Phe955insTer
- NP_001394778.1:p.Asn954_Phe955insTer
- NP_001394779.1:p.Asn955_Phe956insTer
- NP_001394780.1:p.Asn955_Phe956insTer
- NP_001394781.1:p.Asn955_Phe956insTer
- NP_001394782.1:p.Asn931_Phe932insTer
- NP_001394783.1:p.Asn1002_Phe1003insTer
- NP_001394787.1:p.Asn1002_Phe1003insTer
- NP_001394788.1:p.Asn1002_Phe1003insTer
- NP_001394789.1:p.Asn1001_Phe1002insTer
- NP_001394790.1:p.Asn1001_Phe1002insTer
- NP_001394791.1:p.Asn935_Phe936insTer
- NP_001394792.1:p.Asn961_Phe962insTer
- NP_001394803.1:p.Asn934_Phe935insTer
- NP_001394804.1:p.Asn934_Phe935insTer
- NP_001394808.1:p.Asn932_Phe933insTer
- NP_001394810.1:p.Asn932_Phe933insTer
- NP_001394811.1:p.Asn932_Phe933insTer
- NP_001394813.1:p.Asn932_Phe933insTer
- NP_001394814.1:p.Asn932_Phe933insTer
- NP_001394815.1:p.Asn932_Phe933insTer
- NP_001394816.1:p.Asn932_Phe933insTer
- NP_001394818.1:p.Asn932_Phe933insTer
- NP_001394823.1:p.Asn931_Phe932insTer
- NP_001394824.1:p.Asn931_Phe932insTer
- NP_001394825.1:p.Asn931_Phe932insTer
- NP_001394826.1:p.Asn931_Phe932insTer
- NP_001394827.1:p.Asn931_Phe932insTer
- NP_001394828.1:p.Asn931_Phe932insTer
- NP_001394829.1:p.Asn932_Phe933insTer
- NP_001394831.1:p.Asn932_Phe933insTer
- NP_001394833.1:p.Asn932_Phe933insTer
- NP_001394835.1:p.Asn932_Phe933insTer
- NP_001394836.1:p.Asn932_Phe933insTer
- NP_001394837.1:p.Asn932_Phe933insTer
- NP_001394838.1:p.Asn932_Phe933insTer
- NP_001394839.1:p.Asn932_Phe933insTer
- NP_001394844.1:p.Asn931_Phe932insTer
- NP_001394845.1:p.Asn931_Phe932insTer
- NP_001394846.1:p.Asn931_Phe932insTer
- NP_001394847.1:p.Asn931_Phe932insTer
- NP_001394848.1:p.Asn961_Phe962insTer
- NP_001394849.1:p.Asn914_Phe915insTer
- NP_001394850.1:p.Asn914_Phe915insTer
- NP_001394851.1:p.Asn914_Phe915insTer
- NP_001394852.1:p.Asn914_Phe915insTer
- NP_001394853.1:p.Asn914_Phe915insTer
- NP_001394854.1:p.Asn914_Phe915insTer
- NP_001394855.1:p.Asn914_Phe915insTer
- NP_001394856.1:p.Asn914_Phe915insTer
- NP_001394857.1:p.Asn914_Phe915insTer
- NP_001394858.1:p.Asn914_Phe915insTer
- NP_001394859.1:p.Asn913_Phe914insTer
- NP_001394860.1:p.Asn913_Phe914insTer
- NP_001394861.1:p.Asn913_Phe914insTer
- NP_001394862.1:p.Asn914_Phe915insTer
- NP_001394863.1:p.Asn913_Phe914insTer
- NP_001394864.1:p.Asn914_Phe915insTer
- NP_001394865.1:p.Asn913_Phe914insTer
- NP_001394866.1:p.Asn961_Phe962insTer
- NP_001394867.1:p.Asn961_Phe962insTer
- NP_001394868.1:p.Asn961_Phe962insTer
- NP_001394869.1:p.Asn960_Phe961insTer
- NP_001394870.1:p.Asn960_Phe961insTer
- NP_001394871.1:p.Asn955_Phe956insTer
- NP_001394872.1:p.Asn954_Phe955insTer
- NP_001394873.1:p.Asn955_Phe956insTer
- NP_001394874.1:p.Asn955_Phe956insTer
- NP_001394875.1:p.Asn891_Phe892insTer
- NP_001394876.1:p.Asn891_Phe892insTer
- NP_001394877.1:p.Asn891_Phe892insTer
- NP_001394878.1:p.Asn891_Phe892insTer
- NP_001394879.1:p.Asn891_Phe892insTer
- NP_001394880.1:p.Asn891_Phe892insTer
- NP_001394881.1:p.Asn891_Phe892insTer
- NP_001394882.1:p.Asn891_Phe892insTer
- NP_001394883.1:p.Asn890_Phe891insTer
- NP_001394884.1:p.Asn890_Phe891insTer
- NP_001394885.1:p.Asn890_Phe891insTer
- NP_001394886.1:p.Asn891_Phe892insTer
- NP_001394887.1:p.Asn890_Phe891insTer
- NP_001394888.1:p.Asn875_Phe876insTer
- NP_001394889.1:p.Asn875_Phe876insTer
- NP_001394891.1:p.Asn874_Phe875insTer
- NP_001394892.1:p.Asn875_Phe876insTer
- NP_001394893.1:p.Asn954_Phe955insTer
- NP_001394894.1:p.Asn834_Phe835insTer
- NP_001394895.1:p.Asn706_Phe707insTer
- NP_001394896.1:p.Asn706_Phe707insTer
- NP_009225.1:p.Asn1002_Phe1003insTer
- NP_009225.1:p.Phe1003Terfs
- NP_009228.2:p.Asn955_Phe956insTer
- NP_009231.2:p.Asn1002_Phe1003insTer
- LRG_292t1:c.3007_3008del
- LRG_292:g.125461_125462del
- LRG_292p1:p.Phe1003Terfs
- NC_000017.10:g.41244539_41244540del
- NC_000017.10:g.41244539_41244540delAA
- NC_000017.10:g.41244540_41244541del
- NC_000017.10:g.41244540_41244541del
- NM_007294.3:c.3007_3008delTT
- NM_007294.3:c.3008_3009delTT
- NR_027676.1:n.3143_3144delTT
- U14680.1:n.3127_3128delTT
- p.F1003*
This HGVS expression did not pass validation- Nucleotide change:
- 3127delTT
- Links:
- Breast Cancer Information Core (BIC) (BRCA1): 3127&base_change=del TT; dbSNP: rs80357617
- NCBI 1000 Genomes Browser:
- rs80357617
- Molecular consequence:
- NM_001407968.1:c.788-384_788-383del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-384_788-383del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1500_791-1499del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1491_779-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1491_707-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1491_707-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1491_653-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1491_587-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1491_584-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1491_587-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1491_548-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1491_545-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1491_455-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1491_461-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1491_461-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1491_452-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1491_452-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1491_407-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1491_404-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1491_284-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.2999_3000del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.2999_3000del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.2807_2808del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.2804_2805del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.2804_2805del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.2624_2625del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407964.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.2504_2505del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407966.1:c.2120_2121del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407967.1:c.2120_2121del - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000076053 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Jan 17, 2024) | germline | clinical testing | |
SCV000587271 | 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 | |
SCV001360720 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Oct 4, 2019) | germline | clinical testing |
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
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.
- PMID:
- 20104584
- PMCID:
- PMC2928257
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.
Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pagès S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P.
Genomics. 1999 Dec 15;62(3):369-76.
- PMID:
- 10644434
Details of each submission
From Invitae, SCV000076053.11
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
Description
This sequence change creates a premature translational stop signal (p.Phe1003*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 10644434). This variant is also known as 3127del2. ClinVar contains an entry for this variant (Variation ID: 54747). 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), SCV000587271.1
# | 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360720.1
# | 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.3008_3009delTT (p.Phe1003X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250840 control chromosomes (gnomAD). c.3008_3009delTT has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Crawford_2017, Nakamura_2013, Singh_2018, Wen_2017). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven submitters, including one expert panel (ENIGMA) have provided clinical-significance assessments for this variant in ClinVar after 2014, and all of them classified the variant as pathogenic. 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: Aug 18, 2024