ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs)
Variation ID: 54858 Accession: VCV000054858.6
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092169 (GRCh38) [ NCBI UCSC ] 17: 41244186 (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 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3362del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1121fs frameshift NM_001407571.1:c.3149del NP_001394500.1:p.Asn1050fs frameshift NM_001407581.1:c.3362del NP_001394510.1:p.Asn1121fs frameshift NM_001407582.1:c.3362del NP_001394511.1:p.Asn1121fs frameshift NM_001407583.1:c.3362del NP_001394512.1:p.Asn1121fs frameshift NM_001407585.1:c.3362del NP_001394514.1:p.Asn1121fs frameshift NM_001407587.1:c.3359del NP_001394516.1:p.Asn1120fs frameshift NM_001407590.1:c.3359del NP_001394519.1:p.Asn1120fs frameshift NM_001407591.1:c.3359del NP_001394520.1:p.Asn1120fs frameshift NM_001407593.1:c.3362del NP_001394522.1:p.Asn1121fs frameshift NM_001407594.1:c.3362del NP_001394523.1:p.Asn1121fs frameshift NM_001407596.1:c.3362del NP_001394525.1:p.Asn1121fs frameshift NM_001407597.1:c.3362del NP_001394526.1:p.Asn1121fs frameshift NM_001407598.1:c.3362del NP_001394527.1:p.Asn1121fs frameshift NM_001407602.1:c.3362del NP_001394531.1:p.Asn1121fs frameshift NM_001407603.1:c.3362del NP_001394532.1:p.Asn1121fs frameshift NM_001407605.1:c.3362del NP_001394534.1:p.Asn1121fs frameshift NM_001407610.1:c.3359del NP_001394539.1:p.Asn1120fs frameshift NM_001407611.1:c.3359del NP_001394540.1:p.Asn1120fs frameshift NM_001407612.1:c.3359del NP_001394541.1:p.Asn1120fs frameshift NM_001407613.1:c.3359del NP_001394542.1:p.Asn1120fs frameshift NM_001407614.1:c.3359del NP_001394543.1:p.Asn1120fs frameshift NM_001407615.1:c.3359del NP_001394544.1:p.Asn1120fs frameshift NM_001407616.1:c.3362del NP_001394545.1:p.Asn1121fs frameshift NM_001407617.1:c.3362del NP_001394546.1:p.Asn1121fs frameshift NM_001407618.1:c.3362del NP_001394547.1:p.Asn1121fs frameshift NM_001407619.1:c.3362del NP_001394548.1:p.Asn1121fs frameshift NM_001407620.1:c.3362del NP_001394549.1:p.Asn1121fs frameshift NM_001407621.1:c.3362del NP_001394550.1:p.Asn1121fs frameshift NM_001407622.1:c.3362del NP_001394551.1:p.Asn1121fs frameshift NM_001407623.1:c.3362del NP_001394552.1:p.Asn1121fs frameshift NM_001407624.1:c.3362del NP_001394553.1:p.Asn1121fs frameshift NM_001407625.1:c.3362del NP_001394554.1:p.Asn1121fs frameshift NM_001407626.1:c.3362del NP_001394555.1:p.Asn1121fs frameshift NM_001407627.1:c.3359del NP_001394556.1:p.Asn1120fs frameshift NM_001407628.1:c.3359del NP_001394557.1:p.Asn1120fs frameshift NM_001407629.1:c.3359del NP_001394558.1:p.Asn1120fs frameshift NM_001407630.1:c.3359del NP_001394559.1:p.Asn1120fs frameshift NM_001407631.1:c.3359del NP_001394560.1:p.Asn1120fs frameshift NM_001407632.1:c.3359del NP_001394561.1:p.Asn1120fs frameshift NM_001407633.1:c.3359del NP_001394562.1:p.Asn1120fs frameshift NM_001407634.1:c.3359del NP_001394563.1:p.Asn1120fs frameshift NM_001407635.1:c.3359del NP_001394564.1:p.Asn1120fs frameshift NM_001407636.1:c.3359del NP_001394565.1:p.Asn1120fs frameshift NM_001407637.1:c.3359del NP_001394566.1:p.Asn1120fs frameshift NM_001407638.1:c.3359del NP_001394567.1:p.Asn1120fs frameshift NM_001407639.1:c.3362del NP_001394568.1:p.Asn1121fs frameshift NM_001407640.1:c.3362del NP_001394569.1:p.Asn1121fs frameshift NM_001407641.1:c.3362del NP_001394570.1:p.Asn1121fs frameshift NM_001407642.1:c.3362del NP_001394571.1:p.Asn1121fs frameshift NM_001407644.1:c.3359del NP_001394573.1:p.Asn1120fs frameshift NM_001407645.1:c.3359del NP_001394574.1:p.Asn1120fs frameshift NM_001407646.1:c.3353del NP_001394575.1:p.Asn1118fs frameshift NM_001407647.1:c.3353del NP_001394576.1:p.Asn1118fs frameshift NM_001407648.1:c.3239del NP_001394577.1:p.Asn1080fs frameshift NM_001407649.1:c.3236del NP_001394578.1:p.Asn1079fs frameshift NM_001407652.1:c.3362del NP_001394581.1:p.Asn1121fs frameshift NM_001407653.1:c.3284del NP_001394582.1:p.Asn1095fs frameshift NM_001407654.1:c.3284del NP_001394583.1:p.Asn1095fs frameshift NM_001407655.1:c.3284del NP_001394584.1:p.Asn1095fs frameshift NM_001407656.1:c.3284del NP_001394585.1:p.Asn1095fs frameshift NM_001407657.1:c.3284del NP_001394586.1:p.Asn1095fs frameshift NM_001407658.1:c.3284del NP_001394587.1:p.Asn1095fs frameshift NM_001407659.1:c.3281del NP_001394588.1:p.Asn1094fs frameshift NM_001407660.1:c.3281del NP_001394589.1:p.Asn1094fs frameshift NM_001407661.1:c.3281del NP_001394590.1:p.Asn1094fs frameshift NM_001407662.1:c.3281del NP_001394591.1:p.Asn1094fs frameshift NM_001407663.1:c.3284del NP_001394592.1:p.Asn1095fs frameshift NM_001407664.1:c.3239del NP_001394593.1:p.Asn1080fs frameshift NM_001407665.1:c.3239del NP_001394594.1:p.Asn1080fs frameshift NM_001407666.1:c.3239del NP_001394595.1:p.Asn1080fs frameshift NM_001407667.1:c.3239del NP_001394596.1:p.Asn1080fs frameshift NM_001407668.1:c.3239del NP_001394597.1:p.Asn1080fs frameshift NM_001407669.1:c.3239del NP_001394598.1:p.Asn1080fs frameshift NM_001407670.1:c.3236del NP_001394599.1:p.Asn1079fs frameshift NM_001407671.1:c.3236del NP_001394600.1:p.Asn1079fs frameshift NM_001407672.1:c.3236del NP_001394601.1:p.Asn1079fs frameshift NM_001407673.1:c.3236del NP_001394602.1:p.Asn1079fs frameshift NM_001407674.1:c.3239del NP_001394603.1:p.Asn1080fs frameshift NM_001407675.1:c.3239del NP_001394604.1:p.Asn1080fs frameshift NM_001407676.1:c.3239del NP_001394605.1:p.Asn1080fs frameshift NM_001407677.1:c.3239del NP_001394606.1:p.Asn1080fs frameshift NM_001407678.1:c.3239del NP_001394607.1:p.Asn1080fs frameshift NM_001407679.1:c.3239del NP_001394608.1:p.Asn1080fs frameshift NM_001407680.1:c.3239del NP_001394609.1:p.Asn1080fs frameshift NM_001407681.1:c.3239del NP_001394610.1:p.Asn1080fs frameshift NM_001407682.1:c.3239del NP_001394611.1:p.Asn1080fs frameshift NM_001407683.1:c.3239del NP_001394612.1:p.Asn1080fs frameshift NM_001407684.1:c.3362del NP_001394613.1:p.Asn1121fs frameshift NM_001407685.1:c.3236del NP_001394614.1:p.Asn1079fs frameshift NM_001407686.1:c.3236del NP_001394615.1:p.Asn1079fs frameshift NM_001407687.1:c.3236del NP_001394616.1:p.Asn1079fs frameshift NM_001407688.1:c.3236del NP_001394617.1:p.Asn1079fs frameshift NM_001407689.1:c.3236del NP_001394618.1:p.Asn1079fs frameshift NM_001407690.1:c.3236del NP_001394619.1:p.Asn1079fs frameshift NM_001407691.1:c.3236del NP_001394620.1:p.Asn1079fs frameshift NM_001407692.1:c.3221del NP_001394621.1:p.Asn1074fs frameshift NM_001407694.1:c.3221del NP_001394623.1:p.Asn1074fs frameshift NM_001407695.1:c.3221del NP_001394624.1:p.Asn1074fs frameshift NM_001407696.1:c.3221del NP_001394625.1:p.Asn1074fs frameshift NM_001407697.1:c.3221del NP_001394626.1:p.Asn1074fs frameshift NM_001407698.1:c.3221del NP_001394627.1:p.Asn1074fs frameshift NM_001407724.1:c.3221del NP_001394653.1:p.Asn1074fs frameshift NM_001407725.1:c.3221del NP_001394654.1:p.Asn1074fs frameshift NM_001407726.1:c.3221del NP_001394655.1:p.Asn1074fs frameshift NM_001407727.1:c.3221del NP_001394656.1:p.Asn1074fs frameshift NM_001407728.1:c.3221del NP_001394657.1:p.Asn1074fs frameshift NM_001407729.1:c.3221del NP_001394658.1:p.Asn1074fs frameshift NM_001407730.1:c.3221del NP_001394659.1:p.Asn1074fs frameshift NM_001407731.1:c.3221del NP_001394660.1:p.Asn1074fs frameshift NM_001407732.1:c.3221del NP_001394661.1:p.Asn1074fs frameshift NM_001407733.1:c.3221del NP_001394662.1:p.Asn1074fs frameshift NM_001407734.1:c.3221del NP_001394663.1:p.Asn1074fs frameshift NM_001407735.1:c.3221del NP_001394664.1:p.Asn1074fs frameshift NM_001407736.1:c.3221del NP_001394665.1:p.Asn1074fs frameshift NM_001407737.1:c.3221del NP_001394666.1:p.Asn1074fs frameshift NM_001407738.1:c.3221del NP_001394667.1:p.Asn1074fs frameshift NM_001407739.1:c.3221del NP_001394668.1:p.Asn1074fs frameshift NM_001407740.1:c.3218del NP_001394669.1:p.Asn1073fs frameshift NM_001407741.1:c.3218del NP_001394670.1:p.Asn1073fs frameshift NM_001407742.1:c.3218del NP_001394671.1:p.Asn1073fs frameshift NM_001407743.1:c.3218del NP_001394672.1:p.Asn1073fs frameshift NM_001407744.1:c.3218del NP_001394673.1:p.Asn1073fs frameshift NM_001407745.1:c.3218del NP_001394674.1:p.Asn1073fs frameshift NM_001407746.1:c.3218del NP_001394675.1:p.Asn1073fs frameshift NM_001407747.1:c.3218del NP_001394676.1:p.Asn1073fs frameshift NM_001407748.1:c.3218del NP_001394677.1:p.Asn1073fs frameshift NM_001407749.1:c.3218del NP_001394678.1:p.Asn1073fs frameshift NM_001407750.1:c.3221del NP_001394679.1:p.Asn1074fs frameshift NM_001407751.1:c.3221del NP_001394680.1:p.Asn1074fs frameshift NM_001407752.1:c.3221del NP_001394681.1:p.Asn1074fs frameshift NM_001407838.1:c.3218del NP_001394767.1:p.Asn1073fs frameshift NM_001407839.1:c.3218del NP_001394768.1:p.Asn1073fs frameshift NM_001407841.1:c.3218del NP_001394770.1:p.Asn1073fs frameshift NM_001407842.1:c.3218del NP_001394771.1:p.Asn1073fs frameshift NM_001407843.1:c.3218del NP_001394772.1:p.Asn1073fs frameshift NM_001407844.1:c.3218del NP_001394773.1:p.Asn1073fs frameshift NM_001407845.1:c.3218del NP_001394774.1:p.Asn1073fs frameshift NM_001407846.1:c.3218del NP_001394775.1:p.Asn1073fs frameshift NM_001407847.1:c.3218del NP_001394776.1:p.Asn1073fs frameshift NM_001407848.1:c.3218del NP_001394777.1:p.Asn1073fs frameshift NM_001407849.1:c.3218del NP_001394778.1:p.Asn1073fs frameshift NM_001407850.1:c.3221del NP_001394779.1:p.Asn1074fs frameshift NM_001407851.1:c.3221del NP_001394780.1:p.Asn1074fs frameshift NM_001407852.1:c.3221del NP_001394781.1:p.Asn1074fs frameshift NM_001407853.1:c.3149del NP_001394782.1:p.Asn1050fs frameshift NM_001407854.1:c.3362del NP_001394783.1:p.Asn1121fs frameshift NM_001407858.1:c.3362del NP_001394787.1:p.Asn1121fs frameshift NM_001407859.1:c.3362del NP_001394788.1:p.Asn1121fs frameshift NM_001407860.1:c.3359del NP_001394789.1:p.Asn1120fs frameshift NM_001407861.1:c.3359del NP_001394790.1:p.Asn1120fs frameshift NM_001407862.1:c.3161del NP_001394791.1:p.Asn1054fs frameshift NM_001407863.1:c.3239del NP_001394792.1:p.Asn1080fs frameshift NM_001407874.1:c.3158del NP_001394803.1:p.Asn1053fs frameshift NM_001407875.1:c.3158del NP_001394804.1:p.Asn1053fs frameshift NM_001407879.1:c.3152del NP_001394808.1:p.Asn1051fs frameshift NM_001407881.1:c.3152del NP_001394810.1:p.Asn1051fs frameshift NM_001407882.1:c.3152del NP_001394811.1:p.Asn1051fs frameshift NM_001407884.1:c.3152del NP_001394813.1:p.Asn1051fs frameshift NM_001407885.1:c.3152del NP_001394814.1:p.Asn1051fs frameshift NM_001407886.1:c.3152del NP_001394815.1:p.Asn1051fs frameshift NM_001407887.1:c.3152del NP_001394816.1:p.Asn1051fs frameshift NM_001407889.1:c.3152del NP_001394818.1:p.Asn1051fs frameshift NM_001407894.1:c.3149del NP_001394823.1:p.Asn1050fs frameshift NM_001407895.1:c.3149del NP_001394824.1:p.Asn1050fs frameshift NM_001407896.1:c.3149del NP_001394825.1:p.Asn1050fs frameshift NM_001407897.1:c.3149del NP_001394826.1:p.Asn1050fs frameshift NM_001407898.1:c.3149del NP_001394827.1:p.Asn1050fs frameshift NM_001407899.1:c.3149del NP_001394828.1:p.Asn1050fs frameshift NM_001407900.1:c.3152del NP_001394829.1:p.Asn1051fs frameshift NM_001407902.1:c.3152del NP_001394831.1:p.Asn1051fs frameshift NM_001407904.1:c.3152del NP_001394833.1:p.Asn1051fs frameshift NM_001407906.1:c.3152del NP_001394835.1:p.Asn1051fs frameshift NM_001407907.1:c.3152del NP_001394836.1:p.Asn1051fs frameshift NM_001407908.1:c.3152del NP_001394837.1:p.Asn1051fs frameshift NM_001407909.1:c.3152del NP_001394838.1:p.Asn1051fs frameshift NM_001407910.1:c.3152del NP_001394839.1:p.Asn1051fs frameshift NM_001407915.1:c.3149del NP_001394844.1:p.Asn1050fs frameshift NM_001407916.1:c.3149del NP_001394845.1:p.Asn1050fs frameshift NM_001407917.1:c.3149del NP_001394846.1:p.Asn1050fs frameshift NM_001407918.1:c.3149del NP_001394847.1:p.Asn1050fs frameshift NM_001407919.1:c.3239del NP_001394848.1:p.Asn1080fs frameshift NM_001407920.1:c.3098del NP_001394849.1:p.Asn1033fs frameshift NM_001407921.1:c.3098del NP_001394850.1:p.Asn1033fs frameshift NM_001407922.1:c.3098del NP_001394851.1:p.Asn1033fs frameshift NM_001407923.1:c.3098del NP_001394852.1:p.Asn1033fs frameshift NM_001407924.1:c.3098del NP_001394853.1:p.Asn1033fs frameshift NM_001407925.1:c.3098del NP_001394854.1:p.Asn1033fs frameshift NM_001407926.1:c.3098del NP_001394855.1:p.Asn1033fs frameshift NM_001407927.1:c.3098del NP_001394856.1:p.Asn1033fs frameshift NM_001407928.1:c.3098del NP_001394857.1:p.Asn1033fs frameshift NM_001407929.1:c.3098del NP_001394858.1:p.Asn1033fs frameshift NM_001407930.1:c.3095del NP_001394859.1:p.Asn1032fs frameshift NM_001407931.1:c.3095del NP_001394860.1:p.Asn1032fs frameshift NM_001407932.1:c.3095del NP_001394861.1:p.Asn1032fs frameshift NM_001407933.1:c.3098del NP_001394862.1:p.Asn1033fs frameshift NM_001407934.1:c.3095del NP_001394863.1:p.Asn1032fs frameshift NM_001407935.1:c.3098del NP_001394864.1:p.Asn1033fs frameshift NM_001407936.1:c.3095del NP_001394865.1:p.Asn1032fs frameshift NM_001407937.1:c.3239del NP_001394866.1:p.Asn1080fs frameshift NM_001407938.1:c.3239del NP_001394867.1:p.Asn1080fs frameshift NM_001407939.1:c.3239del NP_001394868.1:p.Asn1080fs frameshift NM_001407940.1:c.3236del NP_001394869.1:p.Asn1079fs frameshift NM_001407941.1:c.3236del NP_001394870.1:p.Asn1079fs frameshift NM_001407942.1:c.3221del NP_001394871.1:p.Asn1074fs frameshift NM_001407943.1:c.3218del NP_001394872.1:p.Asn1073fs frameshift NM_001407944.1:c.3221del NP_001394873.1:p.Asn1074fs frameshift NM_001407945.1:c.3221del NP_001394874.1:p.Asn1074fs frameshift NM_001407946.1:c.3029del NP_001394875.1:p.Asn1010fs frameshift NM_001407947.1:c.3029del NP_001394876.1:p.Asn1010fs frameshift NM_001407948.1:c.3029del NP_001394877.1:p.Asn1010fs frameshift NM_001407949.1:c.3029del NP_001394878.1:p.Asn1010fs frameshift NM_001407950.1:c.3029del NP_001394879.1:p.Asn1010fs frameshift NM_001407951.1:c.3029del NP_001394880.1:p.Asn1010fs frameshift NM_001407952.1:c.3029del NP_001394881.1:p.Asn1010fs frameshift NM_001407953.1:c.3029del NP_001394882.1:p.Asn1010fs frameshift NM_001407954.1:c.3026del NP_001394883.1:p.Asn1009fs frameshift NM_001407955.1:c.3026del NP_001394884.1:p.Asn1009fs frameshift NM_001407956.1:c.3026del NP_001394885.1:p.Asn1009fs frameshift NM_001407957.1:c.3029del NP_001394886.1:p.Asn1010fs frameshift NM_001407958.1:c.3026del NP_001394887.1:p.Asn1009fs frameshift NM_001407959.1:c.2981del NP_001394888.1:p.Asn994fs frameshift NM_001407960.1:c.2981del NP_001394889.1:p.Asn994fs frameshift NM_001407962.1:c.2978del NP_001394891.1:p.Asn993fs frameshift NM_001407963.1:c.2981del NP_001394892.1:p.Asn994fs frameshift NM_001407964.1:c.3218del NP_001394893.1:p.Asn1073fs frameshift NM_001407965.1:c.2858del NP_001394894.1:p.Asn953fs frameshift NM_001407966.1:c.2474del NP_001394895.1:p.Asn825fs frameshift NM_001407967.1:c.2474del NP_001394896.1:p.Asn825fs frameshift NM_001407968.1:c.788-30del intron variant NM_001407969.1:c.788-30del intron variant NM_001407970.1:c.788-1137del intron variant NM_001407971.1:c.788-1137del intron variant NM_001407972.1:c.785-1137del intron variant NM_001407973.1:c.788-1137del intron variant NM_001407974.1:c.788-1137del intron variant NM_001407975.1:c.788-1137del intron variant NM_001407976.1:c.788-1137del intron variant NM_001407977.1:c.788-1137del intron variant NM_001407978.1:c.788-1137del intron variant NM_001407979.1:c.788-1137del intron variant NM_001407980.1:c.788-1137del intron variant NM_001407981.1:c.788-1137del intron variant NM_001407982.1:c.788-1137del intron variant NM_001407983.1:c.788-1137del intron variant NM_001407984.1:c.785-1137del intron variant NM_001407985.1:c.785-1137del intron variant NM_001407986.1:c.785-1137del intron variant NM_001407990.1:c.788-1137del intron variant NM_001407991.1:c.785-1137del intron variant NM_001407992.1:c.785-1137del intron variant NM_001407993.1:c.788-1137del intron variant NM_001408392.1:c.785-1137del intron variant NM_001408396.1:c.785-1137del intron variant NM_001408397.1:c.785-1137del intron variant NM_001408398.1:c.785-1137del intron variant NM_001408399.1:c.785-1137del intron variant NM_001408400.1:c.785-1137del intron variant NM_001408401.1:c.785-1137del intron variant NM_001408402.1:c.785-1137del intron variant NM_001408403.1:c.788-1137del intron variant NM_001408404.1:c.788-1137del intron variant NM_001408406.1:c.791-1146del intron variant NM_001408407.1:c.785-1137del intron variant NM_001408408.1:c.779-1137del intron variant NM_001408409.1:c.710-1137del intron variant NM_001408410.1:c.647-1137del intron variant NM_001408411.1:c.710-1137del intron variant NM_001408412.1:c.710-1137del intron variant NM_001408413.1:c.707-1137del intron variant NM_001408414.1:c.710-1137del intron variant NM_001408415.1:c.710-1137del intron variant NM_001408416.1:c.707-1137del intron variant NM_001408418.1:c.671-1137del intron variant NM_001408419.1:c.671-1137del intron variant NM_001408420.1:c.671-1137del intron variant NM_001408421.1:c.668-1137del intron variant NM_001408422.1:c.671-1137del intron variant NM_001408423.1:c.671-1137del intron variant NM_001408424.1:c.668-1137del intron variant NM_001408425.1:c.665-1137del intron variant NM_001408426.1:c.665-1137del intron variant NM_001408427.1:c.665-1137del intron variant NM_001408428.1:c.665-1137del intron variant NM_001408429.1:c.665-1137del intron variant NM_001408430.1:c.665-1137del intron variant NM_001408431.1:c.668-1137del intron variant NM_001408432.1:c.662-1137del intron variant NM_001408433.1:c.662-1137del intron variant NM_001408434.1:c.662-1137del intron variant NM_001408435.1:c.662-1137del intron variant NM_001408436.1:c.665-1137del intron variant NM_001408437.1:c.665-1137del intron variant NM_001408438.1:c.665-1137del intron variant NM_001408439.1:c.665-1137del intron variant NM_001408440.1:c.665-1137del intron variant NM_001408441.1:c.665-1137del intron variant NM_001408442.1:c.665-1137del intron variant NM_001408443.1:c.665-1137del intron variant NM_001408444.1:c.665-1137del intron variant NM_001408445.1:c.662-1137del intron variant NM_001408446.1:c.662-1137del intron variant NM_001408447.1:c.662-1137del intron variant NM_001408448.1:c.662-1137del intron variant NM_001408450.1:c.662-1137del intron variant NM_001408451.1:c.653-1137del intron variant NM_001408452.1:c.647-1137del intron variant NM_001408453.1:c.647-1137del intron variant NM_001408454.1:c.647-1137del intron variant NM_001408455.1:c.647-1137del intron variant NM_001408456.1:c.647-1137del intron variant NM_001408457.1:c.647-1137del intron variant NM_001408458.1:c.647-1137del intron variant NM_001408459.1:c.647-1137del intron variant NM_001408460.1:c.647-1137del intron variant NM_001408461.1:c.647-1137del intron variant NM_001408462.1:c.644-1137del intron variant NM_001408463.1:c.644-1137del intron variant NM_001408464.1:c.644-1137del intron variant NM_001408465.1:c.644-1137del intron variant NM_001408466.1:c.647-1137del intron variant NM_001408467.1:c.647-1137del intron variant NM_001408468.1:c.644-1137del intron variant NM_001408469.1:c.647-1137del intron variant NM_001408470.1:c.644-1137del intron variant NM_001408472.1:c.788-1137del intron variant NM_001408473.1:c.785-1137del intron variant NM_001408474.1:c.587-1137del intron variant NM_001408475.1:c.584-1137del intron variant NM_001408476.1:c.587-1137del intron variant NM_001408478.1:c.578-1137del intron variant NM_001408479.1:c.578-1137del intron variant NM_001408480.1:c.578-1137del intron variant NM_001408481.1:c.578-1137del intron variant NM_001408482.1:c.578-1137del intron variant NM_001408483.1:c.578-1137del intron variant NM_001408484.1:c.578-1137del intron variant NM_001408485.1:c.578-1137del intron variant NM_001408489.1:c.578-1137del intron variant NM_001408490.1:c.575-1137del intron variant NM_001408491.1:c.575-1137del intron variant NM_001408492.1:c.578-1137del intron variant NM_001408493.1:c.575-1137del intron variant NM_001408494.1:c.548-1137del intron variant NM_001408495.1:c.545-1137del intron variant NM_001408496.1:c.524-1137del intron variant NM_001408497.1:c.524-1137del intron variant NM_001408498.1:c.524-1137del intron variant NM_001408499.1:c.524-1137del intron variant NM_001408500.1:c.524-1137del intron variant NM_001408501.1:c.524-1137del intron variant NM_001408502.1:c.455-1137del intron variant NM_001408503.1:c.521-1137del intron variant NM_001408504.1:c.521-1137del intron variant NM_001408505.1:c.521-1137del intron variant NM_001408506.1:c.461-1137del intron variant NM_001408507.1:c.461-1137del intron variant NM_001408508.1:c.452-1137del intron variant NM_001408509.1:c.452-1137del intron variant NM_001408510.1:c.407-1137del intron variant NM_001408511.1:c.404-1137del intron variant NM_001408512.1:c.284-1137del intron variant NM_001408513.1:c.578-1137del intron variant NM_001408514.1:c.578-1137del intron variant NM_007294.3:c.3362delA frameshift NM_007297.4:c.3221del NP_009228.2:p.Asn1074fs frameshift NM_007298.4:c.788-1137del intron variant NM_007299.4:c.788-1137del intron variant NM_007300.4:c.3362del NP_009231.2:p.Asn1121fs frameshift NR_027676.1:n.3497delA NC_000017.11:g.43092170del NC_000017.10:g.41244187del NG_005905.2:g.125815del NG_087068.1:g.1152del LRG_292:g.125815del LRG_292t1:c.3361del LRG_292p1:p.Asn1121Ilefs U14680.1:n.3481delA - Protein change
- N1074fs, N1121fs, N1050fs, N1073fs, N1079fs, N1120fs, N953fs, N1032fs, N1051fs, N1053fs, N994fs, N1010fs, N1033fs, N1095fs, N1118fs, N993fs, N1009fs, N1054fs, N1080fs, N1094fs, N825fs
- Other names
- 3481delA
- Canonical SPDI
- NC_000017.11:43092168:TT:T
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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 (3) |
reviewed by expert panel
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Sep 8, 2016 | RCV000112080.6 | |
Pathogenic (1) |
no assertion criteria provided
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Jan 31, 2014 | RCV000496822.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 19, 2017 | RCV002321547.2 |
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)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299933.2
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
(Sep 19, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002606300.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3362delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3362, causing … (more)
The c.3362delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3362, causing a translational frameshift with a predicted alternate stop codon. 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
(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: SCV000325634.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Feb 20, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144740.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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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: SCV000587305.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80357865 ...
HelpRecord last updated Oct 08, 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.