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NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 24, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000657207.15

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]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778933GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 24, 2018) 		germlineclinical testing

Citation Link,

SCV000806938PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 11, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000778933.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This deletion of two nucleotides in BRCA1 is denoted c.3642_3643delGA at the cDNA level and p.Asn1215LeufsX3 (N1215LfsX3) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAGA[delGA]ACTT. The deletion causes a frameshift which changes an Asparagine to a Leucine at codon 1215, and creates a premature stop codon at position 3 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3642_3643delGA, also reported as BRCA1 3761_3762delGA using alternate nomenclature, has been reported in association with breast and ovarian cancer (Machackova 2001, Foretova 2004). We consider this variant to be pathogenic.

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

From PreventionGenetics, part of Exact Sciences, SCV000806938.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025