ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
Variation ID: 54972 Accession: VCV000054972.50
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091821 (GRCh38) [ NCBI UCSC ] 17: 41243838 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Aug 25, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3710del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1237fs frameshift NM_001407571.1:c.3497del NP_001394500.1:p.Ile1166fs frameshift NM_001407581.1:c.3710del NP_001394510.1:p.Ile1237fs frameshift NM_001407582.1:c.3710del NP_001394511.1:p.Ile1237fs frameshift NM_001407583.1:c.3710del NP_001394512.1:p.Ile1237fs frameshift NM_001407585.1:c.3710del NP_001394514.1:p.Ile1237fs frameshift NM_001407587.1:c.3707del NP_001394516.1:p.Ile1236fs frameshift NM_001407590.1:c.3707del NP_001394519.1:p.Ile1236fs frameshift NM_001407591.1:c.3707del NP_001394520.1:p.Ile1236fs frameshift NM_001407593.1:c.3710del NP_001394522.1:p.Ile1237fs frameshift NM_001407594.1:c.3710del NP_001394523.1:p.Ile1237fs frameshift NM_001407596.1:c.3710del NP_001394525.1:p.Ile1237fs frameshift NM_001407597.1:c.3710del NP_001394526.1:p.Ile1237fs frameshift NM_001407598.1:c.3710del NP_001394527.1:p.Ile1237fs frameshift NM_001407602.1:c.3710del NP_001394531.1:p.Ile1237fs frameshift NM_001407603.1:c.3710del NP_001394532.1:p.Ile1237fs frameshift NM_001407605.1:c.3710del NP_001394534.1:p.Ile1237fs frameshift NM_001407610.1:c.3707del NP_001394539.1:p.Ile1236fs frameshift NM_001407611.1:c.3707del NP_001394540.1:p.Ile1236fs frameshift NM_001407612.1:c.3707del NP_001394541.1:p.Ile1236fs frameshift NM_001407613.1:c.3707del NP_001394542.1:p.Ile1236fs frameshift NM_001407614.1:c.3707del NP_001394543.1:p.Ile1236fs frameshift NM_001407615.1:c.3707del NP_001394544.1:p.Ile1236fs frameshift NM_001407616.1:c.3710del NP_001394545.1:p.Ile1237fs frameshift NM_001407617.1:c.3710del NP_001394546.1:p.Ile1237fs frameshift NM_001407618.1:c.3710del NP_001394547.1:p.Ile1237fs frameshift NM_001407619.1:c.3710del NP_001394548.1:p.Ile1237fs frameshift NM_001407620.1:c.3710del NP_001394549.1:p.Ile1237fs frameshift NM_001407621.1:c.3710del NP_001394550.1:p.Ile1237fs frameshift NM_001407622.1:c.3710del NP_001394551.1:p.Ile1237fs frameshift NM_001407623.1:c.3710del NP_001394552.1:p.Ile1237fs frameshift NM_001407624.1:c.3710del NP_001394553.1:p.Ile1237fs frameshift NM_001407625.1:c.3710del NP_001394554.1:p.Ile1237fs frameshift NM_001407626.1:c.3710del NP_001394555.1:p.Ile1237fs frameshift NM_001407627.1:c.3707del NP_001394556.1:p.Ile1236fs frameshift NM_001407628.1:c.3707del NP_001394557.1:p.Ile1236fs frameshift NM_001407629.1:c.3707del NP_001394558.1:p.Ile1236fs frameshift NM_001407630.1:c.3707del NP_001394559.1:p.Ile1236fs frameshift NM_001407631.1:c.3707del NP_001394560.1:p.Ile1236fs frameshift NM_001407632.1:c.3707del NP_001394561.1:p.Ile1236fs frameshift NM_001407633.1:c.3707del NP_001394562.1:p.Ile1236fs frameshift NM_001407634.1:c.3707del NP_001394563.1:p.Ile1236fs frameshift NM_001407635.1:c.3707del NP_001394564.1:p.Ile1236fs frameshift NM_001407636.1:c.3707del NP_001394565.1:p.Ile1236fs frameshift NM_001407637.1:c.3707del NP_001394566.1:p.Ile1236fs frameshift NM_001407638.1:c.3707del NP_001394567.1:p.Ile1236fs frameshift NM_001407639.1:c.3710del NP_001394568.1:p.Ile1237fs frameshift NM_001407640.1:c.3710del NP_001394569.1:p.Ile1237fs frameshift NM_001407641.1:c.3710del NP_001394570.1:p.Ile1237fs frameshift NM_001407642.1:c.3710del NP_001394571.1:p.Ile1237fs frameshift NM_001407644.1:c.3707del NP_001394573.1:p.Ile1236fs frameshift NM_001407645.1:c.3707del NP_001394574.1:p.Ile1236fs frameshift NM_001407646.1:c.3701del NP_001394575.1:p.Ile1234fs frameshift NM_001407647.1:c.3701del NP_001394576.1:p.Ile1234fs frameshift NM_001407648.1:c.3587del NP_001394577.1:p.Ile1196fs frameshift NM_001407649.1:c.3584del NP_001394578.1:p.Ile1195fs frameshift NM_001407652.1:c.3710del NP_001394581.1:p.Ile1237fs frameshift NM_001407653.1:c.3632del NP_001394582.1:p.Ile1211fs frameshift NM_001407654.1:c.3632del NP_001394583.1:p.Ile1211fs frameshift NM_001407655.1:c.3632del NP_001394584.1:p.Ile1211fs frameshift NM_001407656.1:c.3632del NP_001394585.1:p.Ile1211fs frameshift NM_001407657.1:c.3632del NP_001394586.1:p.Ile1211fs frameshift NM_001407658.1:c.3632del NP_001394587.1:p.Ile1211fs frameshift NM_001407659.1:c.3629del NP_001394588.1:p.Ile1210fs frameshift NM_001407660.1:c.3629del NP_001394589.1:p.Ile1210fs frameshift NM_001407661.1:c.3629del NP_001394590.1:p.Ile1210fs frameshift NM_001407662.1:c.3629del NP_001394591.1:p.Ile1210fs frameshift NM_001407663.1:c.3632del NP_001394592.1:p.Ile1211fs frameshift NM_001407664.1:c.3587del NP_001394593.1:p.Ile1196fs frameshift NM_001407665.1:c.3587del NP_001394594.1:p.Ile1196fs frameshift NM_001407666.1:c.3587del NP_001394595.1:p.Ile1196fs frameshift NM_001407667.1:c.3587del NP_001394596.1:p.Ile1196fs frameshift NM_001407668.1:c.3587del NP_001394597.1:p.Ile1196fs frameshift NM_001407669.1:c.3587del NP_001394598.1:p.Ile1196fs frameshift NM_001407670.1:c.3584del NP_001394599.1:p.Ile1195fs frameshift NM_001407671.1:c.3584del NP_001394600.1:p.Ile1195fs frameshift NM_001407672.1:c.3584del NP_001394601.1:p.Ile1195fs frameshift NM_001407673.1:c.3584del NP_001394602.1:p.Ile1195fs frameshift NM_001407674.1:c.3587del NP_001394603.1:p.Ile1196fs frameshift NM_001407675.1:c.3587del NP_001394604.1:p.Ile1196fs frameshift NM_001407676.1:c.3587del NP_001394605.1:p.Ile1196fs frameshift NM_001407677.1:c.3587del NP_001394606.1:p.Ile1196fs frameshift NM_001407678.1:c.3587del NP_001394607.1:p.Ile1196fs frameshift NM_001407679.1:c.3587del NP_001394608.1:p.Ile1196fs frameshift NM_001407680.1:c.3587del NP_001394609.1:p.Ile1196fs frameshift NM_001407681.1:c.3587del NP_001394610.1:p.Ile1196fs frameshift NM_001407682.1:c.3587del NP_001394611.1:p.Ile1196fs frameshift NM_001407683.1:c.3587del NP_001394612.1:p.Ile1196fs frameshift NM_001407684.1:c.3710del NP_001394613.1:p.Ile1237fs frameshift NM_001407685.1:c.3584del NP_001394614.1:p.Ile1195fs frameshift NM_001407686.1:c.3584del NP_001394615.1:p.Ile1195fs frameshift NM_001407687.1:c.3584del NP_001394616.1:p.Ile1195fs frameshift NM_001407688.1:c.3584del NP_001394617.1:p.Ile1195fs frameshift NM_001407689.1:c.3584del NP_001394618.1:p.Ile1195fs frameshift NM_001407690.1:c.3584del NP_001394619.1:p.Ile1195fs frameshift NM_001407691.1:c.3584del NP_001394620.1:p.Ile1195fs frameshift NM_001407692.1:c.3569del NP_001394621.1:p.Ile1190fs frameshift NM_001407694.1:c.3569del NP_001394623.1:p.Ile1190fs frameshift NM_001407695.1:c.3569del NP_001394624.1:p.Ile1190fs frameshift NM_001407696.1:c.3569del NP_001394625.1:p.Ile1190fs frameshift NM_001407697.1:c.3569del NP_001394626.1:p.Ile1190fs frameshift NM_001407698.1:c.3569del NP_001394627.1:p.Ile1190fs frameshift NM_001407724.1:c.3569del NP_001394653.1:p.Ile1190fs frameshift NM_001407725.1:c.3569del NP_001394654.1:p.Ile1190fs frameshift NM_001407726.1:c.3569del NP_001394655.1:p.Ile1190fs frameshift NM_001407727.1:c.3569del NP_001394656.1:p.Ile1190fs frameshift NM_001407728.1:c.3569del NP_001394657.1:p.Ile1190fs frameshift NM_001407729.1:c.3569del NP_001394658.1:p.Ile1190fs frameshift NM_001407730.1:c.3569del NP_001394659.1:p.Ile1190fs frameshift NM_001407731.1:c.3569del NP_001394660.1:p.Ile1190fs frameshift NM_001407732.1:c.3569del NP_001394661.1:p.Ile1190fs frameshift NM_001407733.1:c.3569del NP_001394662.1:p.Ile1190fs frameshift NM_001407734.1:c.3569del NP_001394663.1:p.Ile1190fs frameshift NM_001407735.1:c.3569del NP_001394664.1:p.Ile1190fs frameshift NM_001407736.1:c.3569del NP_001394665.1:p.Ile1190fs frameshift NM_001407737.1:c.3569del NP_001394666.1:p.Ile1190fs frameshift NM_001407738.1:c.3569del NP_001394667.1:p.Ile1190fs frameshift NM_001407739.1:c.3569del NP_001394668.1:p.Ile1190fs frameshift NM_001407740.1:c.3566del NP_001394669.1:p.Ile1189fs frameshift NM_001407741.1:c.3566del NP_001394670.1:p.Ile1189fs frameshift NM_001407742.1:c.3566del NP_001394671.1:p.Ile1189fs frameshift NM_001407743.1:c.3566del NP_001394672.1:p.Ile1189fs frameshift NM_001407744.1:c.3566del NP_001394673.1:p.Ile1189fs frameshift NM_001407745.1:c.3566del NP_001394674.1:p.Ile1189fs frameshift NM_001407746.1:c.3566del NP_001394675.1:p.Ile1189fs frameshift NM_001407747.1:c.3566del NP_001394676.1:p.Ile1189fs frameshift NM_001407748.1:c.3566del NP_001394677.1:p.Ile1189fs frameshift NM_001407749.1:c.3566del NP_001394678.1:p.Ile1189fs frameshift NM_001407750.1:c.3569del NP_001394679.1:p.Ile1190fs frameshift NM_001407751.1:c.3569del NP_001394680.1:p.Ile1190fs frameshift NM_001407752.1:c.3569del NP_001394681.1:p.Ile1190fs frameshift NM_001407838.1:c.3566del NP_001394767.1:p.Ile1189fs frameshift NM_001407839.1:c.3566del NP_001394768.1:p.Ile1189fs frameshift NM_001407841.1:c.3566del NP_001394770.1:p.Ile1189fs frameshift NM_001407842.1:c.3566del NP_001394771.1:p.Ile1189fs frameshift NM_001407843.1:c.3566del NP_001394772.1:p.Ile1189fs frameshift NM_001407844.1:c.3566del NP_001394773.1:p.Ile1189fs frameshift NM_001407845.1:c.3566del NP_001394774.1:p.Ile1189fs frameshift NM_001407846.1:c.3566del NP_001394775.1:p.Ile1189fs frameshift NM_001407847.1:c.3566del NP_001394776.1:p.Ile1189fs frameshift NM_001407848.1:c.3566del NP_001394777.1:p.Ile1189fs frameshift NM_001407849.1:c.3566del NP_001394778.1:p.Ile1189fs frameshift NM_001407850.1:c.3569del NP_001394779.1:p.Ile1190fs frameshift NM_001407851.1:c.3569del NP_001394780.1:p.Ile1190fs frameshift NM_001407852.1:c.3569del NP_001394781.1:p.Ile1190fs frameshift NM_001407853.1:c.3497del NP_001394782.1:p.Ile1166fs frameshift NM_001407854.1:c.3710del NP_001394783.1:p.Ile1237fs frameshift NM_001407858.1:c.3710del NP_001394787.1:p.Ile1237fs frameshift NM_001407859.1:c.3710del NP_001394788.1:p.Ile1237fs frameshift NM_001407860.1:c.3707del NP_001394789.1:p.Ile1236fs frameshift NM_001407861.1:c.3707del NP_001394790.1:p.Ile1236fs frameshift NM_001407862.1:c.3509del NP_001394791.1:p.Ile1170fs frameshift NM_001407863.1:c.3587del NP_001394792.1:p.Ile1196fs frameshift NM_001407874.1:c.3506del NP_001394803.1:p.Ile1169fs frameshift NM_001407875.1:c.3506del NP_001394804.1:p.Ile1169fs frameshift NM_001407879.1:c.3500del NP_001394808.1:p.Ile1167fs frameshift NM_001407881.1:c.3500del NP_001394810.1:p.Ile1167fs frameshift NM_001407882.1:c.3500del NP_001394811.1:p.Ile1167fs frameshift NM_001407884.1:c.3500del NP_001394813.1:p.Ile1167fs frameshift NM_001407885.1:c.3500del NP_001394814.1:p.Ile1167fs frameshift NM_001407886.1:c.3500del NP_001394815.1:p.Ile1167fs frameshift NM_001407887.1:c.3500del NP_001394816.1:p.Ile1167fs frameshift NM_001407889.1:c.3500del NP_001394818.1:p.Ile1167fs frameshift NM_001407894.1:c.3497del NP_001394823.1:p.Ile1166fs frameshift NM_001407895.1:c.3497del NP_001394824.1:p.Ile1166fs frameshift NM_001407896.1:c.3497del NP_001394825.1:p.Ile1166fs frameshift NM_001407897.1:c.3497del NP_001394826.1:p.Ile1166fs frameshift NM_001407898.1:c.3497del NP_001394827.1:p.Ile1166fs frameshift NM_001407899.1:c.3497del NP_001394828.1:p.Ile1166fs frameshift NM_001407900.1:c.3500del NP_001394829.1:p.Ile1167fs frameshift NM_001407902.1:c.3500del NP_001394831.1:p.Ile1167fs frameshift NM_001407904.1:c.3500del NP_001394833.1:p.Ile1167fs frameshift NM_001407906.1:c.3500del NP_001394835.1:p.Ile1167fs frameshift NM_001407907.1:c.3500del NP_001394836.1:p.Ile1167fs frameshift NM_001407908.1:c.3500del NP_001394837.1:p.Ile1167fs frameshift NM_001407909.1:c.3500del NP_001394838.1:p.Ile1167fs frameshift NM_001407910.1:c.3500del NP_001394839.1:p.Ile1167fs frameshift NM_001407915.1:c.3497del NP_001394844.1:p.Ile1166fs frameshift NM_001407916.1:c.3497del NP_001394845.1:p.Ile1166fs frameshift NM_001407917.1:c.3497del NP_001394846.1:p.Ile1166fs frameshift NM_001407918.1:c.3497del NP_001394847.1:p.Ile1166fs frameshift NM_001407919.1:c.3587del NP_001394848.1:p.Ile1196fs frameshift NM_001407920.1:c.3446del NP_001394849.1:p.Ile1149fs frameshift NM_001407921.1:c.3446del NP_001394850.1:p.Ile1149fs frameshift NM_001407922.1:c.3446del NP_001394851.1:p.Ile1149fs frameshift NM_001407923.1:c.3446del NP_001394852.1:p.Ile1149fs frameshift NM_001407924.1:c.3446del NP_001394853.1:p.Ile1149fs frameshift NM_001407925.1:c.3446del NP_001394854.1:p.Ile1149fs frameshift NM_001407926.1:c.3446del NP_001394855.1:p.Ile1149fs frameshift NM_001407927.1:c.3446del NP_001394856.1:p.Ile1149fs frameshift NM_001407928.1:c.3446del NP_001394857.1:p.Ile1149fs frameshift NM_001407929.1:c.3446del NP_001394858.1:p.Ile1149fs frameshift NM_001407930.1:c.3443del NP_001394859.1:p.Ile1148fs frameshift NM_001407931.1:c.3443del NP_001394860.1:p.Ile1148fs frameshift NM_001407932.1:c.3443del NP_001394861.1:p.Ile1148fs frameshift NM_001407933.1:c.3446del NP_001394862.1:p.Ile1149fs frameshift NM_001407934.1:c.3443del NP_001394863.1:p.Ile1148fs frameshift NM_001407935.1:c.3446del NP_001394864.1:p.Ile1149fs frameshift NM_001407936.1:c.3443del NP_001394865.1:p.Ile1148fs frameshift NM_001407937.1:c.3587del NP_001394866.1:p.Ile1196fs frameshift NM_001407938.1:c.3587del NP_001394867.1:p.Ile1196fs frameshift NM_001407939.1:c.3587del NP_001394868.1:p.Ile1196fs frameshift NM_001407940.1:c.3584del NP_001394869.1:p.Ile1195fs frameshift NM_001407941.1:c.3584del NP_001394870.1:p.Ile1195fs frameshift NM_001407942.1:c.3569del NP_001394871.1:p.Ile1190fs frameshift NM_001407943.1:c.3566del NP_001394872.1:p.Ile1189fs frameshift NM_001407944.1:c.3569del NP_001394873.1:p.Ile1190fs frameshift NM_001407945.1:c.3569del NP_001394874.1:p.Ile1190fs frameshift NM_001407946.1:c.3377del NP_001394875.1:p.Ile1126fs frameshift NM_001407947.1:c.3377del NP_001394876.1:p.Ile1126fs frameshift NM_001407948.1:c.3377del NP_001394877.1:p.Ile1126fs frameshift NM_001407949.1:c.3377del NP_001394878.1:p.Ile1126fs frameshift NM_001407950.1:c.3377del NP_001394879.1:p.Ile1126fs frameshift NM_001407951.1:c.3377del NP_001394880.1:p.Ile1126fs frameshift NM_001407952.1:c.3377del NP_001394881.1:p.Ile1126fs frameshift NM_001407953.1:c.3377del NP_001394882.1:p.Ile1126fs frameshift NM_001407954.1:c.3374del NP_001394883.1:p.Ile1125fs frameshift NM_001407955.1:c.3374del NP_001394884.1:p.Ile1125fs frameshift NM_001407956.1:c.3374del NP_001394885.1:p.Ile1125fs frameshift NM_001407957.1:c.3377del NP_001394886.1:p.Ile1126fs frameshift NM_001407958.1:c.3374del NP_001394887.1:p.Ile1125fs frameshift NM_001407959.1:c.3329del NP_001394888.1:p.Ile1110fs frameshift NM_001407960.1:c.3329del NP_001394889.1:p.Ile1110fs frameshift NM_001407962.1:c.3326del NP_001394891.1:p.Ile1109fs frameshift NM_001407963.1:c.3329del NP_001394892.1:p.Ile1110fs frameshift NM_001407964.1:c.3566del NP_001394893.1:p.Ile1189fs frameshift NM_001407965.1:c.3206del NP_001394894.1:p.Ile1069fs frameshift NM_001407966.1:c.2822del NP_001394895.1:p.Ile941fs frameshift NM_001407967.1:c.2822del NP_001394896.1:p.Ile941fs frameshift NM_001407968.1:c.1106del NP_001394897.1:p.Ile369fs frameshift NM_001407969.1:c.1106del NP_001394898.1:p.Ile369fs frameshift NM_001407970.1:c.788-789del intron variant NM_001407971.1:c.788-789del intron variant NM_001407972.1:c.785-789del intron variant NM_001407973.1:c.788-789del intron variant NM_001407974.1:c.788-789del intron variant NM_001407975.1:c.788-789del intron variant NM_001407976.1:c.788-789del intron variant NM_001407977.1:c.788-789del intron variant NM_001407978.1:c.788-789del intron variant NM_001407979.1:c.788-789del intron variant NM_001407980.1:c.788-789del intron variant NM_001407981.1:c.788-789del intron variant NM_001407982.1:c.788-789del intron variant NM_001407983.1:c.788-789del intron variant NM_001407984.1:c.785-789del intron variant NM_001407985.1:c.785-789del intron variant NM_001407986.1:c.785-789del intron variant NM_001407990.1:c.788-789del intron variant NM_001407991.1:c.785-789del intron variant NM_001407992.1:c.785-789del intron variant NM_001407993.1:c.788-789del intron variant NM_001408392.1:c.785-789del intron variant NM_001408396.1:c.785-789del intron variant NM_001408397.1:c.785-789del intron variant NM_001408398.1:c.785-789del intron variant NM_001408399.1:c.785-789del intron variant NM_001408400.1:c.785-789del intron variant NM_001408401.1:c.785-789del intron variant NM_001408402.1:c.785-789del intron variant NM_001408403.1:c.788-789del intron variant NM_001408404.1:c.788-789del intron variant NM_001408406.1:c.791-798del intron variant NM_001408407.1:c.785-789del intron variant NM_001408408.1:c.779-789del intron variant NM_001408409.1:c.710-789del intron variant NM_001408410.1:c.647-789del intron variant NM_001408411.1:c.710-789del intron variant NM_001408412.1:c.710-789del intron variant NM_001408413.1:c.707-789del intron variant NM_001408414.1:c.710-789del intron variant NM_001408415.1:c.710-789del intron variant NM_001408416.1:c.707-789del intron variant NM_001408418.1:c.671-789del intron variant NM_001408419.1:c.671-789del intron variant NM_001408420.1:c.671-789del intron variant NM_001408421.1:c.668-789del intron variant NM_001408422.1:c.671-789del intron variant NM_001408423.1:c.671-789del intron variant NM_001408424.1:c.668-789del intron variant NM_001408425.1:c.665-789del intron variant NM_001408426.1:c.665-789del intron variant NM_001408427.1:c.665-789del intron variant NM_001408428.1:c.665-789del intron variant NM_001408429.1:c.665-789del intron variant NM_001408430.1:c.665-789del intron variant NM_001408431.1:c.668-789del intron variant NM_001408432.1:c.662-789del intron variant NM_001408433.1:c.662-789del intron variant NM_001408434.1:c.662-789del intron variant NM_001408435.1:c.662-789del intron variant NM_001408436.1:c.665-789del intron variant NM_001408437.1:c.665-789del intron variant NM_001408438.1:c.665-789del intron variant NM_001408439.1:c.665-789del intron variant NM_001408440.1:c.665-789del intron variant NM_001408441.1:c.665-789del intron variant NM_001408442.1:c.665-789del intron variant NM_001408443.1:c.665-789del intron variant NM_001408444.1:c.665-789del intron variant NM_001408445.1:c.662-789del intron variant NM_001408446.1:c.662-789del intron variant NM_001408447.1:c.662-789del intron variant NM_001408448.1:c.662-789del intron variant NM_001408450.1:c.662-789del intron variant NM_001408451.1:c.653-789del intron variant NM_001408452.1:c.647-789del intron variant NM_001408453.1:c.647-789del intron variant NM_001408454.1:c.647-789del intron variant NM_001408455.1:c.647-789del intron variant NM_001408456.1:c.647-789del intron variant NM_001408457.1:c.647-789del intron variant NM_001408458.1:c.647-789del intron variant NM_001408459.1:c.647-789del intron variant NM_001408460.1:c.647-789del intron variant NM_001408461.1:c.647-789del intron variant NM_001408462.1:c.644-789del intron variant NM_001408463.1:c.644-789del intron variant NM_001408464.1:c.644-789del intron variant NM_001408465.1:c.644-789del intron variant NM_001408466.1:c.647-789del intron variant NM_001408467.1:c.647-789del intron variant NM_001408468.1:c.644-789del intron variant NM_001408469.1:c.647-789del intron variant NM_001408470.1:c.644-789del intron variant NM_001408472.1:c.788-789del intron variant NM_001408473.1:c.785-789del intron variant NM_001408474.1:c.587-789del intron variant NM_001408475.1:c.584-789del intron variant NM_001408476.1:c.587-789del intron variant NM_001408478.1:c.578-789del intron variant NM_001408479.1:c.578-789del intron variant NM_001408480.1:c.578-789del intron variant NM_001408481.1:c.578-789del intron variant NM_001408482.1:c.578-789del intron variant NM_001408483.1:c.578-789del intron variant NM_001408484.1:c.578-789del intron variant NM_001408485.1:c.578-789del intron variant NM_001408489.1:c.578-789del intron variant NM_001408490.1:c.575-789del intron variant NM_001408491.1:c.575-789del intron variant NM_001408492.1:c.578-789del intron variant NM_001408493.1:c.575-789del intron variant NM_001408494.1:c.548-789del intron variant NM_001408495.1:c.545-789del intron variant NM_001408496.1:c.524-789del intron variant NM_001408497.1:c.524-789del intron variant NM_001408498.1:c.524-789del intron variant NM_001408499.1:c.524-789del intron variant NM_001408500.1:c.524-789del intron variant NM_001408501.1:c.524-789del intron variant NM_001408502.1:c.455-789del intron variant NM_001408503.1:c.521-789del intron variant NM_001408504.1:c.521-789del intron variant NM_001408505.1:c.521-789del intron variant NM_001408506.1:c.461-789del intron variant NM_001408507.1:c.461-789del intron variant NM_001408508.1:c.452-789del intron variant NM_001408509.1:c.452-789del intron variant NM_001408510.1:c.407-789del intron variant NM_001408511.1:c.404-789del intron variant NM_001408512.1:c.284-789del intron variant NM_001408513.1:c.578-789del intron variant NM_001408514.1:c.578-789del intron variant NM_007297.4:c.3569del NP_009228.2:p.Ile1190fs frameshift NM_007298.4:c.788-789del intron variant NM_007299.4:c.788-789del intron variant NM_007300.4:c.3710del NP_009231.2:p.Ile1237fs frameshift NR_027676.1:n.3846delT NC_000017.11:g.43091821del NC_000017.10:g.41243838del NG_005905.2:g.126163del NG_087068.1:g.803del LRG_292:g.126163del LRG_292t1:c.3710del LRG_292p1:p.Ile1237Asnfs U14680.1:n.3829delT - Protein change
- I1237fs, I1190fs, I1110fs, I1169fs, I1211fs, I1236fs, I941fs, I1109fs, I1125fs, I1149fs, I1195fs, I1069fs, I1167fs, I1170fs, I1196fs, I1234fs, I1126fs, I1148fs, I1166fs, I1189fs, I1210fs, I369fs
- Other names
- 3829delT
- Canonical SPDI
- NC_000017.11:43091820:A:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (8) |
reviewed by expert panel
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Sep 8, 2016 | RCV000112160.17 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Feb 19, 2024 | RCV000130545.16 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 8, 2023 | RCV000496724.17 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2024 | RCV000657163.21 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299997.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Jan 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000904985.1
First in ClinVar: May 19, 2019 Last updated: May 19, 2019 |
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide 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. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in multiple individuals and families affected with breast and ovarian cancer (PMID: 8644702, 11504767, 14746861, 18465347, 18559594, 20104584, 24131973) and it has been reported as a recurrent mutation in Scandinavian populations (PMID: 10788334, 18465347, 23199084). 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. (less)
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Pathogenic
(May 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215131.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Feb 19, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185414.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.3710delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3710, causing … (more)
The c.3710delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3710, causing a translational frameshift with a predicted alternate stop codon (p.I1237Nfs*27). This alteration has been reported in multiple patients with breast and/or ovarian cancer and has been established as a common mutation in the Scandinavian region (Johannsson O et al. Am. J. Hum. Genet., 1996 Mar;58:441-50; Loman N et al. J. Natl. Cancer Inst. 2001 Aug;93(16):1215-23; Malander S et al. Eur. J. Cancer, 2004 Feb;40:422-8; Soegaard N et al. Clin. Cancer Res. 2008 Jun;14(12):3761-7); Thomassen N et al. Acta Oncol 2008 ;47(4):772-7; Borg A et al. Hum. Mutat., 2010 Mar;31:E1200-40; Janaviius R. EPMA J, 2010 Sep;1:397-412; Safra T et al. Ann. Oncol., 2013 Nov;24 Suppl 8:viii63-viii68; Heramb C et al. Hered Cancer Clin Pract. 2018 Jan 10;16:3). Of note, this alteration is also referred to as 3829delT in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045931.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM2_supporting; PM5_PTC_Strong
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Pathogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550994.6
First in ClinVar: Jul 23, 2022 Last updated: Aug 04, 2024 |
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Pathogenic
(Jul 01, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564319.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Number of individuals with the variant: 6
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Pathogenic
(Sep 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000778881.2
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.3710delT at the cDNA level and p.Ile1237AsnfsX27 (I1237NfsX27) at the protein level. The normal sequence, with … (more)
This deletion of one nucleotide in BRCA1 is denoted c.3710delT at the cDNA level and p.Ile1237AsnfsX27 (I1237NfsX27) at the protein level. The normal sequence, with the base that is deleted in brackets, is AATA[delT]ACCT. The deletion causes a frameshift which changes an Isoleucine to an Asparagine at codon 1237, and creates a premature stop codon at position 27 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.3710delT, also defined as BRCA1 3829delT using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer syndrome and has been reported as a recurrent variant in Scandinavian populations (Johannsson 1996, Loman 2001, Malander 2004, Thomassen 2008). We consider this variant to be pathogenic. (less)
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Pathogenic
(Nov 08, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918794.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: BRCA1 c.3710delT (p.Ile1237AsnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.3710delT (p.Ile1237AsnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Glu1250X, p.Ser1253fsX10, p.Lys1254X). The variant was absent in 246022 control chromosomes (gnomAD). c.3710delT has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Kurian_2008, Malander_2003, Thomassen_2008). These data indicate that the variant is very likely to be associated with disease. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 25, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473193.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The BRCA1 c.3710delT; p.Ile1237fs variant (rs80357564), also known as 3829delT, is reported in the literature in individuals with breast and ovarian cancer syndrome (Heramb 2018, … (more)
The BRCA1 c.3710delT; p.Ile1237fs variant (rs80357564), also known as 3829delT, is reported in the literature in individuals with breast and ovarian cancer syndrome (Heramb 2018, Johannsson 1996, Safra 2013). This variant is also reported as pathogenic in ClinVar (Variation ID: 54972). It is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Heramb C et al. BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. Hered Cancer Clin Pract. 2018 Jan 10;16:3. Johannsson O et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet. 1996 Mar;58(3):441-50. Safra T et al. BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups. Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325731.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Dec 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001582008.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ile1237Asnfs*27) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Ile1237Asnfs*27) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is also known as 3829delT. ClinVar contains an entry for this variant (Variation ID: 54972). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jun 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848364.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Ile1237AsnfsX27 variant in BRCA1 has been reported in >65 individuals with BRCA1-related cancers (first published by Johannsson, 1996 PMID: 8644702). It was absent from … (more)
The p.Ile1237AsnfsX27 variant in BRCA1 has been reported in >65 individuals with BRCA1-related cancers (first published by Johannsson, 1996 PMID: 8644702). It was absent from large population studies. This variant was classified as Pathogenic on 09/08/16 by the ClinGen-approved ENIGMA expert panel (Variation ID 54972). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1237 and leads to a premature termination codon 27 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and ovarian cancer (HBOC). Another variant additional variants involving this codon (c.3710_3711delTA, p.Ile1237Thrfs*6) has been identified in individuals with HBOC and is classified as pathogenic by other laboratories. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4. (less)
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Pathogenic
(Nov 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005199726.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(May 17, 2010)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000297604.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
|
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144844.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Netherlands
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Sweden
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Denmark
Observation 5:
Number of individuals with the variant: 4
Ethnicity/Population group: Western European
|
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587336.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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Pathogenic
(Aug 26, 2022)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV002589110.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. | Nielsen HR | Familial cancer | 2016 | PMID: 26833046 |
BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups. | Safra T | Annals of oncology : official journal of the European Society for Medical Oncology | 2013 | PMID: 24131973 |
Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. | Lee E | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2011 | PMID: 22010008 |
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Performance of BRCA1/2 mutation prediction models in Asian Americans. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18779604 |
BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark. | Soegaard M | Clinical cancer research : an official journal of the American Association for Cancer Research | 2008 | PMID: 18559594 |
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. | Thomassen M | Acta oncologica (Stockholm, Sweden) | 2008 | PMID: 18465347 |
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. | Malander S | European journal of cancer (Oxford, England : 1990) | 2004 | PMID: 14746861 |
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. | Loman N | Journal of the National Cancer Institute | 2001 | PMID: 11504767 |
BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. | Bergthorsson JT | Journal of medical genetics | 2001 | PMID: 11389159 |
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. | Johannsson O | American journal of human genetics | 1996 | PMID: 8644702 |
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Text-mined citations for rs80357564 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.