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NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs) AND BRCA1-related cancer predisposition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004803987.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)]

NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
Other names:
3761delGA
HGVS:
  • NC_000017.10:g.41243908_41243909del
  • NC_000017.11:g.43091889CT[1]
  • NG_005905.2:g.126093GA[1]
  • NG_087068.1:g.871CT[1]
  • NM_001407571.1:c.3429_3430del
  • NM_001407581.1:c.3642_3643del
  • NM_001407582.1:c.3642_3643del
  • NM_001407583.1:c.3642_3643del
  • NM_001407585.1:c.3642_3643del
  • NM_001407587.1:c.3639_3640del
  • NM_001407590.1:c.3639_3640del
  • NM_001407591.1:c.3639_3640del
  • NM_001407593.1:c.3642_3643del
  • NM_001407594.1:c.3642_3643del
  • NM_001407596.1:c.3642_3643del
  • NM_001407597.1:c.3642_3643del
  • NM_001407598.1:c.3642_3643del
  • NM_001407602.1:c.3642_3643del
  • NM_001407603.1:c.3642_3643del
  • NM_001407605.1:c.3642_3643del
  • NM_001407610.1:c.3639_3640del
  • NM_001407611.1:c.3639_3640del
  • NM_001407612.1:c.3639_3640del
  • NM_001407613.1:c.3639_3640del
  • NM_001407614.1:c.3639_3640del
  • NM_001407615.1:c.3639_3640del
  • NM_001407616.1:c.3642_3643del
  • NM_001407617.1:c.3642_3643del
  • NM_001407618.1:c.3642_3643del
  • NM_001407619.1:c.3642_3643del
  • NM_001407620.1:c.3642_3643del
  • NM_001407621.1:c.3642_3643del
  • NM_001407622.1:c.3642_3643del
  • NM_001407623.1:c.3642_3643del
  • NM_001407624.1:c.3642_3643del
  • NM_001407625.1:c.3642_3643del
  • NM_001407626.1:c.3642_3643del
  • NM_001407627.1:c.3639_3640del
  • NM_001407628.1:c.3639_3640del
  • NM_001407629.1:c.3639_3640del
  • NM_001407630.1:c.3639_3640del
  • NM_001407631.1:c.3639_3640del
  • NM_001407632.1:c.3639_3640del
  • NM_001407633.1:c.3639_3640del
  • NM_001407634.1:c.3639_3640del
  • NM_001407635.1:c.3639_3640del
  • NM_001407636.1:c.3639_3640del
  • NM_001407637.1:c.3639_3640del
  • NM_001407638.1:c.3639_3640del
  • NM_001407639.1:c.3642_3643del
  • NM_001407640.1:c.3642_3643del
  • NM_001407641.1:c.3642_3643del
  • NM_001407642.1:c.3642_3643del
  • NM_001407644.1:c.3639_3640del
  • NM_001407645.1:c.3639_3640del
  • NM_001407646.1:c.3633_3634del
  • NM_001407647.1:c.3633_3634del
  • NM_001407648.1:c.3519_3520del
  • NM_001407649.1:c.3516_3517del
  • NM_001407652.1:c.3642_3643del
  • NM_001407653.1:c.3564_3565del
  • NM_001407654.1:c.3564_3565del
  • NM_001407655.1:c.3564_3565del
  • NM_001407656.1:c.3564_3565del
  • NM_001407657.1:c.3564_3565del
  • NM_001407658.1:c.3564_3565del
  • NM_001407659.1:c.3561_3562del
  • NM_001407660.1:c.3561_3562del
  • NM_001407661.1:c.3561_3562del
  • NM_001407662.1:c.3561_3562del
  • NM_001407663.1:c.3564_3565del
  • NM_001407664.1:c.3519_3520del
  • NM_001407665.1:c.3519_3520del
  • NM_001407666.1:c.3519_3520del
  • NM_001407667.1:c.3519_3520del
  • NM_001407668.1:c.3519_3520del
  • NM_001407669.1:c.3519_3520del
  • NM_001407670.1:c.3516_3517del
  • NM_001407671.1:c.3516_3517del
  • NM_001407672.1:c.3516_3517del
  • NM_001407673.1:c.3516_3517del
  • NM_001407674.1:c.3519_3520del
  • NM_001407675.1:c.3519_3520del
  • NM_001407676.1:c.3519_3520del
  • NM_001407677.1:c.3519_3520del
  • NM_001407678.1:c.3519_3520del
  • NM_001407679.1:c.3519_3520del
  • NM_001407680.1:c.3519_3520del
  • NM_001407681.1:c.3519_3520del
  • NM_001407682.1:c.3519_3520del
  • NM_001407683.1:c.3519_3520del
  • NM_001407684.1:c.3642_3643del
  • NM_001407685.1:c.3516_3517del
  • NM_001407686.1:c.3516_3517del
  • NM_001407687.1:c.3516_3517del
  • NM_001407688.1:c.3516_3517del
  • NM_001407689.1:c.3516_3517del
  • NM_001407690.1:c.3516_3517del
  • NM_001407691.1:c.3516_3517del
  • NM_001407692.1:c.3501_3502del
  • NM_001407694.1:c.3501_3502del
  • NM_001407695.1:c.3501_3502del
  • NM_001407696.1:c.3501_3502del
  • NM_001407697.1:c.3501_3502del
  • NM_001407698.1:c.3501_3502del
  • NM_001407724.1:c.3501_3502del
  • NM_001407725.1:c.3501_3502del
  • NM_001407726.1:c.3501_3502del
  • NM_001407727.1:c.3501_3502del
  • NM_001407728.1:c.3501_3502del
  • NM_001407729.1:c.3501_3502del
  • NM_001407730.1:c.3501_3502del
  • NM_001407731.1:c.3501_3502del
  • NM_001407732.1:c.3501_3502del
  • NM_001407733.1:c.3501_3502del
  • NM_001407734.1:c.3501_3502del
  • NM_001407735.1:c.3501_3502del
  • NM_001407736.1:c.3501_3502del
  • NM_001407737.1:c.3501_3502del
  • NM_001407738.1:c.3501_3502del
  • NM_001407739.1:c.3501_3502del
  • NM_001407740.1:c.3498_3499del
  • NM_001407741.1:c.3498_3499del
  • NM_001407742.1:c.3498_3499del
  • NM_001407743.1:c.3498_3499del
  • NM_001407744.1:c.3498_3499del
  • NM_001407745.1:c.3498_3499del
  • NM_001407746.1:c.3498_3499del
  • NM_001407747.1:c.3498_3499del
  • NM_001407748.1:c.3498_3499del
  • NM_001407749.1:c.3498_3499del
  • NM_001407750.1:c.3501_3502del
  • NM_001407751.1:c.3501_3502del
  • NM_001407752.1:c.3501_3502del
  • NM_001407838.1:c.3498_3499del
  • NM_001407839.1:c.3498_3499del
  • NM_001407841.1:c.3498_3499del
  • NM_001407842.1:c.3498_3499del
  • NM_001407843.1:c.3498_3499del
  • NM_001407844.1:c.3498_3499del
  • NM_001407845.1:c.3498_3499del
  • NM_001407846.1:c.3498_3499del
  • NM_001407847.1:c.3498_3499del
  • NM_001407848.1:c.3498_3499del
  • NM_001407849.1:c.3498_3499del
  • NM_001407850.1:c.3501_3502del
  • NM_001407851.1:c.3501_3502del
  • NM_001407852.1:c.3501_3502del
  • NM_001407853.1:c.3429_3430del
  • NM_001407854.1:c.3642_3643del
  • NM_001407858.1:c.3642_3643del
  • NM_001407859.1:c.3642_3643del
  • NM_001407860.1:c.3639_3640del
  • NM_001407861.1:c.3639_3640del
  • NM_001407862.1:c.3441_3442del
  • NM_001407863.1:c.3519_3520del
  • NM_001407874.1:c.3438_3439del
  • NM_001407875.1:c.3438_3439del
  • NM_001407879.1:c.3432_3433del
  • NM_001407881.1:c.3432_3433del
  • NM_001407882.1:c.3432_3433del
  • NM_001407884.1:c.3432_3433del
  • NM_001407885.1:c.3432_3433del
  • NM_001407886.1:c.3432_3433del
  • NM_001407887.1:c.3432_3433del
  • NM_001407889.1:c.3432_3433del
  • NM_001407894.1:c.3429_3430del
  • NM_001407895.1:c.3429_3430del
  • NM_001407896.1:c.3429_3430del
  • NM_001407897.1:c.3429_3430del
  • NM_001407898.1:c.3429_3430del
  • NM_001407899.1:c.3429_3430del
  • NM_001407900.1:c.3432_3433del
  • NM_001407902.1:c.3432_3433del
  • NM_001407904.1:c.3432_3433del
  • NM_001407906.1:c.3432_3433del
  • NM_001407907.1:c.3432_3433del
  • NM_001407908.1:c.3432_3433del
  • NM_001407909.1:c.3432_3433del
  • NM_001407910.1:c.3432_3433del
  • NM_001407915.1:c.3429_3430del
  • NM_001407916.1:c.3429_3430del
  • NM_001407917.1:c.3429_3430del
  • NM_001407918.1:c.3429_3430del
  • NM_001407919.1:c.3519_3520del
  • NM_001407920.1:c.3378_3379del
  • NM_001407921.1:c.3378_3379del
  • NM_001407922.1:c.3378_3379del
  • NM_001407923.1:c.3378_3379del
  • NM_001407924.1:c.3378_3379del
  • NM_001407925.1:c.3378_3379del
  • NM_001407926.1:c.3378_3379del
  • NM_001407927.1:c.3378_3379del
  • NM_001407928.1:c.3378_3379del
  • NM_001407929.1:c.3378_3379del
  • NM_001407930.1:c.3375_3376del
  • NM_001407931.1:c.3375_3376del
  • NM_001407932.1:c.3375_3376del
  • NM_001407933.1:c.3378_3379del
  • NM_001407934.1:c.3375_3376del
  • NM_001407935.1:c.3378_3379del
  • NM_001407936.1:c.3375_3376del
  • NM_001407937.1:c.3519_3520del
  • NM_001407938.1:c.3519_3520del
  • NM_001407939.1:c.3519_3520del
  • NM_001407940.1:c.3516_3517del
  • NM_001407941.1:c.3516_3517del
  • NM_001407942.1:c.3501_3502del
  • NM_001407943.1:c.3498_3499del
  • NM_001407944.1:c.3501_3502del
  • NM_001407945.1:c.3501_3502del
  • NM_001407946.1:c.3309_3310del
  • NM_001407947.1:c.3309_3310del
  • NM_001407948.1:c.3309_3310del
  • NM_001407949.1:c.3309_3310del
  • NM_001407950.1:c.3309_3310del
  • NM_001407951.1:c.3309_3310del
  • NM_001407952.1:c.3309_3310del
  • NM_001407953.1:c.3309_3310del
  • NM_001407954.1:c.3306_3307del
  • NM_001407955.1:c.3306_3307del
  • NM_001407956.1:c.3306_3307del
  • NM_001407957.1:c.3309_3310del
  • NM_001407958.1:c.3306_3307del
  • NM_001407959.1:c.3261_3262del
  • NM_001407960.1:c.3261_3262del
  • NM_001407962.1:c.3258_3259del
  • NM_001407963.1:c.3261_3262del
  • NM_001407964.1:c.3498_3499del
  • NM_001407965.1:c.3138_3139del
  • NM_001407966.1:c.2754_2755del
  • NM_001407967.1:c.2754_2755del
  • NM_001407968.1:c.1038_1039del
  • NM_001407969.1:c.1038_1039del
  • NM_001407970.1:c.788-857_788-856del
  • NM_001407971.1:c.788-857_788-856del
  • NM_001407972.1:c.785-857_785-856del
  • NM_001407973.1:c.788-857_788-856del
  • NM_001407974.1:c.788-857_788-856del
  • NM_001407975.1:c.788-857_788-856del
  • NM_001407976.1:c.788-857_788-856del
  • NM_001407977.1:c.788-857_788-856del
  • NM_001407978.1:c.788-857_788-856del
  • NM_001407979.1:c.788-857_788-856del
  • NM_001407980.1:c.788-857_788-856del
  • NM_001407981.1:c.788-857_788-856del
  • NM_001407982.1:c.788-857_788-856del
  • NM_001407983.1:c.788-857_788-856del
  • NM_001407984.1:c.785-857_785-856del
  • NM_001407985.1:c.785-857_785-856del
  • NM_001407986.1:c.785-857_785-856del
  • NM_001407990.1:c.788-857_788-856del
  • NM_001407991.1:c.785-857_785-856del
  • NM_001407992.1:c.785-857_785-856del
  • NM_001407993.1:c.788-857_788-856del
  • NM_001408392.1:c.785-857_785-856del
  • NM_001408396.1:c.785-857_785-856del
  • NM_001408397.1:c.785-857_785-856del
  • NM_001408398.1:c.785-857_785-856del
  • NM_001408399.1:c.785-857_785-856del
  • NM_001408400.1:c.785-857_785-856del
  • NM_001408401.1:c.785-857_785-856del
  • NM_001408402.1:c.785-857_785-856del
  • NM_001408403.1:c.788-857_788-856del
  • NM_001408404.1:c.788-857_788-856del
  • NM_001408406.1:c.791-866_791-865del
  • NM_001408407.1:c.785-857_785-856del
  • NM_001408408.1:c.779-857_779-856del
  • NM_001408409.1:c.710-857_710-856del
  • NM_001408410.1:c.647-857_647-856del
  • NM_001408411.1:c.710-857_710-856del
  • NM_001408412.1:c.710-857_710-856del
  • NM_001408413.1:c.707-857_707-856del
  • NM_001408414.1:c.710-857_710-856del
  • NM_001408415.1:c.710-857_710-856del
  • NM_001408416.1:c.707-857_707-856del
  • NM_001408418.1:c.671-857_671-856del
  • NM_001408419.1:c.671-857_671-856del
  • NM_001408420.1:c.671-857_671-856del
  • NM_001408421.1:c.668-857_668-856del
  • NM_001408422.1:c.671-857_671-856del
  • NM_001408423.1:c.671-857_671-856del
  • NM_001408424.1:c.668-857_668-856del
  • NM_001408425.1:c.665-857_665-856del
  • NM_001408426.1:c.665-857_665-856del
  • NM_001408427.1:c.665-857_665-856del
  • NM_001408428.1:c.665-857_665-856del
  • NM_001408429.1:c.665-857_665-856del
  • NM_001408430.1:c.665-857_665-856del
  • NM_001408431.1:c.668-857_668-856del
  • NM_001408432.1:c.662-857_662-856del
  • NM_001408433.1:c.662-857_662-856del
  • NM_001408434.1:c.662-857_662-856del
  • NM_001408435.1:c.662-857_662-856del
  • NM_001408436.1:c.665-857_665-856del
  • NM_001408437.1:c.665-857_665-856del
  • NM_001408438.1:c.665-857_665-856del
  • NM_001408439.1:c.665-857_665-856del
  • NM_001408440.1:c.665-857_665-856del
  • NM_001408441.1:c.665-857_665-856del
  • NM_001408442.1:c.665-857_665-856del
  • NM_001408443.1:c.665-857_665-856del
  • NM_001408444.1:c.665-857_665-856del
  • NM_001408445.1:c.662-857_662-856del
  • NM_001408446.1:c.662-857_662-856del
  • NM_001408447.1:c.662-857_662-856del
  • NM_001408448.1:c.662-857_662-856del
  • NM_001408450.1:c.662-857_662-856del
  • NM_001408451.1:c.653-857_653-856del
  • NM_001408452.1:c.647-857_647-856del
  • NM_001408453.1:c.647-857_647-856del
  • NM_001408454.1:c.647-857_647-856del
  • NM_001408455.1:c.647-857_647-856del
  • NM_001408456.1:c.647-857_647-856del
  • NM_001408457.1:c.647-857_647-856del
  • NM_001408458.1:c.647-857_647-856del
  • NM_001408459.1:c.647-857_647-856del
  • NM_001408460.1:c.647-857_647-856del
  • NM_001408461.1:c.647-857_647-856del
  • NM_001408462.1:c.644-857_644-856del
  • NM_001408463.1:c.644-857_644-856del
  • NM_001408464.1:c.644-857_644-856del
  • NM_001408465.1:c.644-857_644-856del
  • NM_001408466.1:c.647-857_647-856del
  • NM_001408467.1:c.647-857_647-856del
  • NM_001408468.1:c.644-857_644-856del
  • NM_001408469.1:c.647-857_647-856del
  • NM_001408470.1:c.644-857_644-856del
  • NM_001408472.1:c.788-857_788-856del
  • NM_001408473.1:c.785-857_785-856del
  • NM_001408474.1:c.587-857_587-856del
  • NM_001408475.1:c.584-857_584-856del
  • NM_001408476.1:c.587-857_587-856del
  • NM_001408478.1:c.578-857_578-856del
  • NM_001408479.1:c.578-857_578-856del
  • NM_001408480.1:c.578-857_578-856del
  • NM_001408481.1:c.578-857_578-856del
  • NM_001408482.1:c.578-857_578-856del
  • NM_001408483.1:c.578-857_578-856del
  • NM_001408484.1:c.578-857_578-856del
  • NM_001408485.1:c.578-857_578-856del
  • NM_001408489.1:c.578-857_578-856del
  • NM_001408490.1:c.575-857_575-856del
  • NM_001408491.1:c.575-857_575-856del
  • NM_001408492.1:c.578-857_578-856del
  • NM_001408493.1:c.575-857_575-856del
  • NM_001408494.1:c.548-857_548-856del
  • NM_001408495.1:c.545-857_545-856del
  • NM_001408496.1:c.524-857_524-856del
  • NM_001408497.1:c.524-857_524-856del
  • NM_001408498.1:c.524-857_524-856del
  • NM_001408499.1:c.524-857_524-856del
  • NM_001408500.1:c.524-857_524-856del
  • NM_001408501.1:c.524-857_524-856del
  • NM_001408502.1:c.455-857_455-856del
  • NM_001408503.1:c.521-857_521-856del
  • NM_001408504.1:c.521-857_521-856del
  • NM_001408505.1:c.521-857_521-856del
  • NM_001408506.1:c.461-857_461-856del
  • NM_001408507.1:c.461-857_461-856del
  • NM_001408508.1:c.452-857_452-856del
  • NM_001408509.1:c.452-857_452-856del
  • NM_001408510.1:c.407-857_407-856del
  • NM_001408511.1:c.404-857_404-856del
  • NM_001408512.1:c.284-857_284-856del
  • NM_001408513.1:c.578-857_578-856del
  • NM_001408514.1:c.578-857_578-856del
  • NM_007294.4:c.3642_3643delMANE SELECT
  • NM_007297.4:c.3501_3502del
  • NM_007298.4:c.788-857_788-856del
  • NM_007299.4:c.788-857_788-856del
  • NM_007300.4:c.3642_3643del
  • NP_001394500.1:p.Asn1144fs
  • NP_001394510.1:p.Asn1215fs
  • NP_001394511.1:p.Asn1215fs
  • NP_001394512.1:p.Asn1215fs
  • NP_001394514.1:p.Asn1215fs
  • NP_001394516.1:p.Asn1214fs
  • NP_001394519.1:p.Asn1214fs
  • NP_001394520.1:p.Asn1214fs
  • NP_001394522.1:p.Asn1215fs
  • NP_001394523.1:p.Asn1215fs
  • NP_001394525.1:p.Asn1215fs
  • NP_001394526.1:p.Asn1215fs
  • NP_001394527.1:p.Asn1215fs
  • NP_001394531.1:p.Asn1215fs
  • NP_001394532.1:p.Asn1215fs
  • NP_001394534.1:p.Asn1215fs
  • NP_001394539.1:p.Asn1214fs
  • NP_001394540.1:p.Asn1214fs
  • NP_001394541.1:p.Asn1214fs
  • NP_001394542.1:p.Asn1214fs
  • NP_001394543.1:p.Asn1214fs
  • NP_001394544.1:p.Asn1214fs
  • NP_001394545.1:p.Asn1215fs
  • NP_001394546.1:p.Asn1215fs
  • NP_001394547.1:p.Asn1215fs
  • NP_001394548.1:p.Asn1215fs
  • NP_001394549.1:p.Asn1215fs
  • NP_001394550.1:p.Asn1215fs
  • NP_001394551.1:p.Asn1215fs
  • NP_001394552.1:p.Asn1215fs
  • NP_001394553.1:p.Asn1215fs
  • NP_001394554.1:p.Asn1215fs
  • NP_001394555.1:p.Asn1215fs
  • NP_001394556.1:p.Asn1214fs
  • NP_001394557.1:p.Asn1214fs
  • NP_001394558.1:p.Asn1214fs
  • NP_001394559.1:p.Asn1214fs
  • NP_001394560.1:p.Asn1214fs
  • NP_001394561.1:p.Asn1214fs
  • NP_001394562.1:p.Asn1214fs
  • NP_001394563.1:p.Asn1214fs
  • NP_001394564.1:p.Asn1214fs
  • NP_001394565.1:p.Asn1214fs
  • NP_001394566.1:p.Asn1214fs
  • NP_001394567.1:p.Asn1214fs
  • NP_001394568.1:p.Asn1215fs
  • NP_001394569.1:p.Asn1215fs
  • NP_001394570.1:p.Asn1215fs
  • NP_001394571.1:p.Asn1215fs
  • NP_001394573.1:p.Asn1214fs
  • NP_001394574.1:p.Asn1214fs
  • NP_001394575.1:p.Asn1212fs
  • NP_001394576.1:p.Asn1212fs
  • NP_001394577.1:p.Asn1174fs
  • NP_001394578.1:p.Asn1173fs
  • NP_001394581.1:p.Asn1215fs
  • NP_001394582.1:p.Asn1189fs
  • NP_001394583.1:p.Asn1189fs
  • NP_001394584.1:p.Asn1189fs
  • NP_001394585.1:p.Asn1189fs
  • NP_001394586.1:p.Asn1189fs
  • NP_001394587.1:p.Asn1189fs
  • NP_001394588.1:p.Asn1188fs
  • NP_001394589.1:p.Asn1188fs
  • NP_001394590.1:p.Asn1188fs
  • NP_001394591.1:p.Asn1188fs
  • NP_001394592.1:p.Asn1189fs
  • NP_001394593.1:p.Asn1174fs
  • NP_001394594.1:p.Asn1174fs
  • NP_001394595.1:p.Asn1174fs
  • NP_001394596.1:p.Asn1174fs
  • NP_001394597.1:p.Asn1174fs
  • NP_001394598.1:p.Asn1174fs
  • NP_001394599.1:p.Asn1173fs
  • NP_001394600.1:p.Asn1173fs
  • NP_001394601.1:p.Asn1173fs
  • NP_001394602.1:p.Asn1173fs
  • NP_001394603.1:p.Asn1174fs
  • NP_001394604.1:p.Asn1174fs
  • NP_001394605.1:p.Asn1174fs
  • NP_001394606.1:p.Asn1174fs
  • NP_001394607.1:p.Asn1174fs
  • NP_001394608.1:p.Asn1174fs
  • NP_001394609.1:p.Asn1174fs
  • NP_001394610.1:p.Asn1174fs
  • NP_001394611.1:p.Asn1174fs
  • NP_001394612.1:p.Asn1174fs
  • NP_001394613.1:p.Asn1215fs
  • NP_001394614.1:p.Asn1173fs
  • NP_001394615.1:p.Asn1173fs
  • NP_001394616.1:p.Asn1173fs
  • NP_001394617.1:p.Asn1173fs
  • NP_001394618.1:p.Asn1173fs
  • NP_001394619.1:p.Asn1173fs
  • NP_001394620.1:p.Asn1173fs
  • NP_001394621.1:p.Asn1168fs
  • NP_001394623.1:p.Asn1168fs
  • NP_001394624.1:p.Asn1168fs
  • NP_001394625.1:p.Asn1168fs
  • NP_001394626.1:p.Asn1168fs
  • NP_001394627.1:p.Asn1168fs
  • NP_001394653.1:p.Asn1168fs
  • NP_001394654.1:p.Asn1168fs
  • NP_001394655.1:p.Asn1168fs
  • NP_001394656.1:p.Asn1168fs
  • NP_001394657.1:p.Asn1168fs
  • NP_001394658.1:p.Asn1168fs
  • NP_001394659.1:p.Asn1168fs
  • NP_001394660.1:p.Asn1168fs
  • NP_001394661.1:p.Asn1168fs
  • NP_001394662.1:p.Asn1168fs
  • NP_001394663.1:p.Asn1168fs
  • NP_001394664.1:p.Asn1168fs
  • NP_001394665.1:p.Asn1168fs
  • NP_001394666.1:p.Asn1168fs
  • NP_001394667.1:p.Asn1168fs
  • NP_001394668.1:p.Asn1168fs
  • NP_001394669.1:p.Asn1167fs
  • NP_001394670.1:p.Asn1167fs
  • NP_001394671.1:p.Asn1167fs
  • NP_001394672.1:p.Asn1167fs
  • NP_001394673.1:p.Asn1167fs
  • NP_001394674.1:p.Asn1167fs
  • NP_001394675.1:p.Asn1167fs
  • NP_001394676.1:p.Asn1167fs
  • NP_001394677.1:p.Asn1167fs
  • NP_001394678.1:p.Asn1167fs
  • NP_001394679.1:p.Asn1168fs
  • NP_001394680.1:p.Asn1168fs
  • NP_001394681.1:p.Asn1168fs
  • NP_001394767.1:p.Asn1167fs
  • NP_001394768.1:p.Asn1167fs
  • NP_001394770.1:p.Asn1167fs
  • NP_001394771.1:p.Asn1167fs
  • NP_001394772.1:p.Asn1167fs
  • NP_001394773.1:p.Asn1167fs
  • NP_001394774.1:p.Asn1167fs
  • NP_001394775.1:p.Asn1167fs
  • NP_001394776.1:p.Asn1167fs
  • NP_001394777.1:p.Asn1167fs
  • NP_001394778.1:p.Asn1167fs
  • NP_001394779.1:p.Asn1168fs
  • NP_001394780.1:p.Asn1168fs
  • NP_001394781.1:p.Asn1168fs
  • NP_001394782.1:p.Asn1144fs
  • NP_001394783.1:p.Asn1215fs
  • NP_001394787.1:p.Asn1215fs
  • NP_001394788.1:p.Asn1215fs
  • NP_001394789.1:p.Asn1214fs
  • NP_001394790.1:p.Asn1214fs
  • NP_001394791.1:p.Asn1148fs
  • NP_001394792.1:p.Asn1174fs
  • NP_001394803.1:p.Asn1147fs
  • NP_001394804.1:p.Asn1147fs
  • NP_001394808.1:p.Asn1145fs
  • NP_001394810.1:p.Asn1145fs
  • NP_001394811.1:p.Asn1145fs
  • NP_001394813.1:p.Asn1145fs
  • NP_001394814.1:p.Asn1145fs
  • NP_001394815.1:p.Asn1145fs
  • NP_001394816.1:p.Asn1145fs
  • NP_001394818.1:p.Asn1145fs
  • NP_001394823.1:p.Asn1144fs
  • NP_001394824.1:p.Asn1144fs
  • NP_001394825.1:p.Asn1144fs
  • NP_001394826.1:p.Asn1144fs
  • NP_001394827.1:p.Asn1144fs
  • NP_001394828.1:p.Asn1144fs
  • NP_001394829.1:p.Asn1145fs
  • NP_001394831.1:p.Asn1145fs
  • NP_001394833.1:p.Asn1145fs
  • NP_001394835.1:p.Asn1145fs
  • NP_001394836.1:p.Asn1145fs
  • NP_001394837.1:p.Asn1145fs
  • NP_001394838.1:p.Asn1145fs
  • NP_001394839.1:p.Asn1145fs
  • NP_001394844.1:p.Asn1144fs
  • NP_001394845.1:p.Asn1144fs
  • NP_001394846.1:p.Asn1144fs
  • NP_001394847.1:p.Asn1144fs
  • NP_001394848.1:p.Asn1174fs
  • NP_001394849.1:p.Asn1127fs
  • NP_001394850.1:p.Asn1127fs
  • NP_001394851.1:p.Asn1127fs
  • NP_001394852.1:p.Asn1127fs
  • NP_001394853.1:p.Asn1127fs
  • NP_001394854.1:p.Asn1127fs
  • NP_001394855.1:p.Asn1127fs
  • NP_001394856.1:p.Asn1127fs
  • NP_001394857.1:p.Asn1127fs
  • NP_001394858.1:p.Asn1127fs
  • NP_001394859.1:p.Asn1126fs
  • NP_001394860.1:p.Asn1126fs
  • NP_001394861.1:p.Asn1126fs
  • NP_001394862.1:p.Asn1127fs
  • NP_001394863.1:p.Asn1126fs
  • NP_001394864.1:p.Asn1127fs
  • NP_001394865.1:p.Asn1126fs
  • NP_001394866.1:p.Asn1174fs
  • NP_001394867.1:p.Asn1174fs
  • NP_001394868.1:p.Asn1174fs
  • NP_001394869.1:p.Asn1173fs
  • NP_001394870.1:p.Asn1173fs
  • NP_001394871.1:p.Asn1168fs
  • NP_001394872.1:p.Asn1167fs
  • NP_001394873.1:p.Asn1168fs
  • NP_001394874.1:p.Asn1168fs
  • NP_001394875.1:p.Asn1104fs
  • NP_001394876.1:p.Asn1104fs
  • NP_001394877.1:p.Asn1104fs
  • NP_001394878.1:p.Asn1104fs
  • NP_001394879.1:p.Asn1104fs
  • NP_001394880.1:p.Asn1104fs
  • NP_001394881.1:p.Asn1104fs
  • NP_001394882.1:p.Asn1104fs
  • NP_001394883.1:p.Asn1103fs
  • NP_001394884.1:p.Asn1103fs
  • NP_001394885.1:p.Asn1103fs
  • NP_001394886.1:p.Asn1104fs
  • NP_001394887.1:p.Asn1103fs
  • NP_001394888.1:p.Asn1088fs
  • NP_001394889.1:p.Asn1088fs
  • NP_001394891.1:p.Asn1087fs
  • NP_001394892.1:p.Asn1088fs
  • NP_001394893.1:p.Asn1167fs
  • NP_001394894.1:p.Asn1047fs
  • NP_001394895.1:p.Asn919fs
  • NP_001394896.1:p.Asn919fs
  • NP_001394897.1:p.Asn347fs
  • NP_001394898.1:p.Asn347fs
  • NP_009225.1:p.Asn1215Leufs
  • NP_009225.1:p.Asn1215fs
  • NP_009228.2:p.Asn1168fs
  • NP_009231.2:p.Asn1215fs
  • LRG_292t1:c.3639_3640AG[1]
  • LRG_292:g.126093GA[1]
  • LRG_292p1:p.Asn1215Leufs
  • NC_000017.10:g.41243905_41243906del
  • NC_000017.10:g.41243906CT[1]
  • NC_000017.10:g.41243908_41243909del
  • NM_007294.3:c.3639_3640AG[1]
  • NM_007294.3:c.3642_3643delGA
  • NM_007294.4:c.3642_3643del
  • NR_027676.1:n.3775_3776AG[1]
  • U14680.1:n.3761_3762delGA
Protein change:
N1047fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3761&base_change=del GA; dbSNP: rs80357805
NCBI 1000 Genomes Browser:
rs80357805
Molecular consequence:
  • NM_001407571.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3633_3634del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3633_3634del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3561_3562del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3561_3562del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3561_3562del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3561_3562del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3639_3640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3441_3442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3438_3439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3438_3439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3432_3433del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3429_3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.3375_3376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.3375_3376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.3375_3376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.3375_3376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.3378_3379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.3375_3376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.3306_3307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.3306_3307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.3306_3307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.3309_3310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.3306_3307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.3261_3262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.3261_3262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.3258_3259del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.3261_3262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3498_3499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2754_2755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2754_2755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.1038_1039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.1038_1039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3501_3502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3642_3643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-866_791-865del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-857_779-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-857_710-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-857_710-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-857_710-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-857_707-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-857_710-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-857_710-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-857_707-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-857_671-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-857_671-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-857_671-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-857_668-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-857_671-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-857_671-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-857_668-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-857_668-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-857_665-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-857_662-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-857_653-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-857_647-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-857_644-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-857_785-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-857_587-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-857_584-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-857_587-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-857_575-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-857_575-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-857_575-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-857_548-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-857_545-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-857_524-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-857_455-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-857_521-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-857_521-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-857_521-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-857_461-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-857_461-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-857_452-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-857_452-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-857_407-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-857_404-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-857_284-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-857_578-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-857_788-856del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
BRCA1-related cancer predisposition
Identifiers:
MONDO: MONDO:0700268; MedGen: CN377757

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005428515All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2024) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided143475not providedclinical testing

Citations

PubMed

Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic.

Machackova E, Damborsky J, Valik D, Foretova L.

Hum Mutat. 2001 Dec;18(6):545.

PubMed [citation]
PMID:
11748848

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, Coene I, Pavlu H, Kosinova V, Kuklova J, Claes K.

BMC Cancer. 2008 May 20;8:140. doi: 10.1186/1471-2407-8-140.

PubMed [citation]
PMID:
18489799
PMCID:
PMC2413254
See all PubMed Citations (6)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV005428515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

This variant deletes 2 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least 3 unrelated individuals affected with breast or ovarian cancer and at 10 suspected hereditary breast and ovarian cancer families (PMID: 11748848, 18489799, 31341520, 31409081). A multifactorial analysis has reported a likelihood ratio (LR) for pathogenicity based on health history of log(LR) = 0.2028528005 (PMID: 31853058). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown143475not providednot provided1not providednot providednot provided

Last Updated: Feb 25, 2025