Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
Variation ID: 54816 Accession: VCV000054816.23
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092252 (GRCh38) [ NCBI UCSC ] 17: 41244269 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3279del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1094fs frameshift NM_001407571.1:c.3066del NP_001394500.1:p.Tyr1023fs frameshift NM_001407581.1:c.3279del NP_001394510.1:p.Tyr1094fs frameshift NM_001407582.1:c.3279del NP_001394511.1:p.Tyr1094fs frameshift NM_001407583.1:c.3279del NP_001394512.1:p.Tyr1094fs frameshift NM_001407585.1:c.3279del NP_001394514.1:p.Tyr1094fs frameshift NM_001407587.1:c.3276del NP_001394516.1:p.Tyr1093fs frameshift NM_001407590.1:c.3276del NP_001394519.1:p.Tyr1093fs frameshift NM_001407591.1:c.3276del NP_001394520.1:p.Tyr1093fs frameshift NM_001407593.1:c.3279del NP_001394522.1:p.Tyr1094fs frameshift NM_001407594.1:c.3279del NP_001394523.1:p.Tyr1094fs frameshift NM_001407596.1:c.3279del NP_001394525.1:p.Tyr1094fs frameshift NM_001407597.1:c.3279del NP_001394526.1:p.Tyr1094fs frameshift NM_001407598.1:c.3279del NP_001394527.1:p.Tyr1094fs frameshift NM_001407602.1:c.3279del NP_001394531.1:p.Tyr1094fs frameshift NM_001407603.1:c.3279del NP_001394532.1:p.Tyr1094fs frameshift NM_001407605.1:c.3279del NP_001394534.1:p.Tyr1094fs frameshift NM_001407610.1:c.3276del NP_001394539.1:p.Tyr1093fs frameshift NM_001407611.1:c.3276del NP_001394540.1:p.Tyr1093fs frameshift NM_001407612.1:c.3276del NP_001394541.1:p.Tyr1093fs frameshift NM_001407613.1:c.3276del NP_001394542.1:p.Tyr1093fs frameshift NM_001407614.1:c.3276del NP_001394543.1:p.Tyr1093fs frameshift NM_001407615.1:c.3276del NP_001394544.1:p.Tyr1093fs frameshift NM_001407616.1:c.3279del NP_001394545.1:p.Tyr1094fs frameshift NM_001407617.1:c.3279del NP_001394546.1:p.Tyr1094fs frameshift NM_001407618.1:c.3279del NP_001394547.1:p.Tyr1094fs frameshift NM_001407619.1:c.3279del NP_001394548.1:p.Tyr1094fs frameshift NM_001407620.1:c.3279del NP_001394549.1:p.Tyr1094fs frameshift NM_001407621.1:c.3279del NP_001394550.1:p.Tyr1094fs frameshift NM_001407622.1:c.3279del NP_001394551.1:p.Tyr1094fs frameshift NM_001407623.1:c.3279del NP_001394552.1:p.Tyr1094fs frameshift NM_001407624.1:c.3279del NP_001394553.1:p.Tyr1094fs frameshift NM_001407625.1:c.3279del NP_001394554.1:p.Tyr1094fs frameshift NM_001407626.1:c.3279del NP_001394555.1:p.Tyr1094fs frameshift NM_001407627.1:c.3276del NP_001394556.1:p.Tyr1093fs frameshift NM_001407628.1:c.3276del NP_001394557.1:p.Tyr1093fs frameshift NM_001407629.1:c.3276del NP_001394558.1:p.Tyr1093fs frameshift NM_001407630.1:c.3276del NP_001394559.1:p.Tyr1093fs frameshift NM_001407631.1:c.3276del NP_001394560.1:p.Tyr1093fs frameshift NM_001407632.1:c.3276del NP_001394561.1:p.Tyr1093fs frameshift NM_001407633.1:c.3276del NP_001394562.1:p.Tyr1093fs frameshift NM_001407634.1:c.3276del NP_001394563.1:p.Tyr1093fs frameshift NM_001407635.1:c.3276del NP_001394564.1:p.Tyr1093fs frameshift NM_001407636.1:c.3276del NP_001394565.1:p.Tyr1093fs frameshift NM_001407637.1:c.3276del NP_001394566.1:p.Tyr1093fs frameshift NM_001407638.1:c.3276del NP_001394567.1:p.Tyr1093fs frameshift NM_001407639.1:c.3279del NP_001394568.1:p.Tyr1094fs frameshift NM_001407640.1:c.3279del NP_001394569.1:p.Tyr1094fs frameshift NM_001407641.1:c.3279del NP_001394570.1:p.Tyr1094fs frameshift NM_001407642.1:c.3279del NP_001394571.1:p.Tyr1094fs frameshift NM_001407644.1:c.3276del NP_001394573.1:p.Tyr1093fs frameshift NM_001407645.1:c.3276del NP_001394574.1:p.Tyr1093fs frameshift NM_001407646.1:c.3270del NP_001394575.1:p.Tyr1091fs frameshift NM_001407647.1:c.3270del NP_001394576.1:p.Tyr1091fs frameshift NM_001407648.1:c.3156del NP_001394577.1:p.Tyr1053fs frameshift NM_001407649.1:c.3153del NP_001394578.1:p.Tyr1052fs frameshift NM_001407652.1:c.3279del NP_001394581.1:p.Tyr1094fs frameshift NM_001407653.1:c.3201del NP_001394582.1:p.Tyr1068fs frameshift NM_001407654.1:c.3201del NP_001394583.1:p.Tyr1068fs frameshift NM_001407655.1:c.3201del NP_001394584.1:p.Tyr1068fs frameshift NM_001407656.1:c.3201del NP_001394585.1:p.Tyr1068fs frameshift NM_001407657.1:c.3201del NP_001394586.1:p.Tyr1068fs frameshift NM_001407658.1:c.3201del NP_001394587.1:p.Tyr1068fs frameshift NM_001407659.1:c.3198del NP_001394588.1:p.Tyr1067fs frameshift NM_001407660.1:c.3198del NP_001394589.1:p.Tyr1067fs frameshift NM_001407661.1:c.3198del NP_001394590.1:p.Tyr1067fs frameshift NM_001407662.1:c.3198del NP_001394591.1:p.Tyr1067fs frameshift NM_001407663.1:c.3201del NP_001394592.1:p.Tyr1068fs frameshift NM_001407664.1:c.3156del NP_001394593.1:p.Tyr1053fs frameshift NM_001407665.1:c.3156del NP_001394594.1:p.Tyr1053fs frameshift NM_001407666.1:c.3156del NP_001394595.1:p.Tyr1053fs frameshift NM_001407667.1:c.3156del NP_001394596.1:p.Tyr1053fs frameshift NM_001407668.1:c.3156del NP_001394597.1:p.Tyr1053fs frameshift NM_001407669.1:c.3156del NP_001394598.1:p.Tyr1053fs frameshift NM_001407670.1:c.3153del NP_001394599.1:p.Tyr1052fs frameshift NM_001407671.1:c.3153del NP_001394600.1:p.Tyr1052fs frameshift NM_001407672.1:c.3153del NP_001394601.1:p.Tyr1052fs frameshift NM_001407673.1:c.3153del NP_001394602.1:p.Tyr1052fs frameshift NM_001407674.1:c.3156del NP_001394603.1:p.Tyr1053fs frameshift NM_001407675.1:c.3156del NP_001394604.1:p.Tyr1053fs frameshift NM_001407676.1:c.3156del NP_001394605.1:p.Tyr1053fs frameshift NM_001407677.1:c.3156del NP_001394606.1:p.Tyr1053fs frameshift NM_001407678.1:c.3156del NP_001394607.1:p.Tyr1053fs frameshift NM_001407679.1:c.3156del NP_001394608.1:p.Tyr1053fs frameshift NM_001407680.1:c.3156del NP_001394609.1:p.Tyr1053fs frameshift NM_001407681.1:c.3156del NP_001394610.1:p.Tyr1053fs frameshift NM_001407682.1:c.3156del NP_001394611.1:p.Tyr1053fs frameshift NM_001407683.1:c.3156del NP_001394612.1:p.Tyr1053fs frameshift NM_001407684.1:c.3279del NP_001394613.1:p.Tyr1094fs frameshift NM_001407685.1:c.3153del NP_001394614.1:p.Tyr1052fs frameshift NM_001407686.1:c.3153del NP_001394615.1:p.Tyr1052fs frameshift NM_001407687.1:c.3153del NP_001394616.1:p.Tyr1052fs frameshift NM_001407688.1:c.3153del NP_001394617.1:p.Tyr1052fs frameshift NM_001407689.1:c.3153del NP_001394618.1:p.Tyr1052fs frameshift NM_001407690.1:c.3153del NP_001394619.1:p.Tyr1052fs frameshift NM_001407691.1:c.3153del NP_001394620.1:p.Tyr1052fs frameshift NM_001407692.1:c.3138del NP_001394621.1:p.Tyr1047fs frameshift NM_001407694.1:c.3138del NP_001394623.1:p.Tyr1047fs frameshift NM_001407695.1:c.3138del NP_001394624.1:p.Tyr1047fs frameshift NM_001407696.1:c.3138del NP_001394625.1:p.Tyr1047fs frameshift NM_001407697.1:c.3138del NP_001394626.1:p.Tyr1047fs frameshift NM_001407698.1:c.3138del NP_001394627.1:p.Tyr1047fs frameshift NM_001407724.1:c.3138del NP_001394653.1:p.Tyr1047fs frameshift NM_001407725.1:c.3138del NP_001394654.1:p.Tyr1047fs frameshift NM_001407726.1:c.3138del NP_001394655.1:p.Tyr1047fs frameshift NM_001407727.1:c.3138del NP_001394656.1:p.Tyr1047fs frameshift NM_001407728.1:c.3138del NP_001394657.1:p.Tyr1047fs frameshift NM_001407729.1:c.3138del NP_001394658.1:p.Tyr1047fs frameshift NM_001407730.1:c.3138del NP_001394659.1:p.Tyr1047fs frameshift NM_001407731.1:c.3138del NP_001394660.1:p.Tyr1047fs frameshift NM_001407732.1:c.3138del NP_001394661.1:p.Tyr1047fs frameshift NM_001407733.1:c.3138del NP_001394662.1:p.Tyr1047fs frameshift NM_001407734.1:c.3138del NP_001394663.1:p.Tyr1047fs frameshift NM_001407735.1:c.3138del NP_001394664.1:p.Tyr1047fs frameshift NM_001407736.1:c.3138del NP_001394665.1:p.Tyr1047fs frameshift NM_001407737.1:c.3138del NP_001394666.1:p.Tyr1047fs frameshift NM_001407738.1:c.3138del NP_001394667.1:p.Tyr1047fs frameshift NM_001407739.1:c.3138del NP_001394668.1:p.Tyr1047fs frameshift NM_001407740.1:c.3135del NP_001394669.1:p.Tyr1046fs frameshift NM_001407741.1:c.3135del NP_001394670.1:p.Tyr1046fs frameshift NM_001407742.1:c.3135del NP_001394671.1:p.Tyr1046fs frameshift NM_001407743.1:c.3135del NP_001394672.1:p.Tyr1046fs frameshift NM_001407744.1:c.3135del NP_001394673.1:p.Tyr1046fs frameshift NM_001407745.1:c.3135del NP_001394674.1:p.Tyr1046fs frameshift NM_001407746.1:c.3135del NP_001394675.1:p.Tyr1046fs frameshift NM_001407747.1:c.3135del NP_001394676.1:p.Tyr1046fs frameshift NM_001407748.1:c.3135del NP_001394677.1:p.Tyr1046fs frameshift NM_001407749.1:c.3135del NP_001394678.1:p.Tyr1046fs frameshift NM_001407750.1:c.3138del NP_001394679.1:p.Tyr1047fs frameshift NM_001407751.1:c.3138del NP_001394680.1:p.Tyr1047fs frameshift NM_001407752.1:c.3138del NP_001394681.1:p.Tyr1047fs frameshift NM_001407838.1:c.3135del NP_001394767.1:p.Tyr1046fs frameshift NM_001407839.1:c.3135del NP_001394768.1:p.Tyr1046fs frameshift NM_001407841.1:c.3135del NP_001394770.1:p.Tyr1046fs frameshift NM_001407842.1:c.3135del NP_001394771.1:p.Tyr1046fs frameshift NM_001407843.1:c.3135del NP_001394772.1:p.Tyr1046fs frameshift NM_001407844.1:c.3135del NP_001394773.1:p.Tyr1046fs frameshift NM_001407845.1:c.3135del NP_001394774.1:p.Tyr1046fs frameshift NM_001407846.1:c.3135del NP_001394775.1:p.Tyr1046fs frameshift NM_001407847.1:c.3135del NP_001394776.1:p.Tyr1046fs frameshift NM_001407848.1:c.3135del NP_001394777.1:p.Tyr1046fs frameshift NM_001407849.1:c.3135del NP_001394778.1:p.Tyr1046fs frameshift NM_001407850.1:c.3138del NP_001394779.1:p.Tyr1047fs frameshift NM_001407851.1:c.3138del NP_001394780.1:p.Tyr1047fs frameshift NM_001407852.1:c.3138del NP_001394781.1:p.Tyr1047fs frameshift NM_001407853.1:c.3066del NP_001394782.1:p.Tyr1023fs frameshift NM_001407854.1:c.3279del NP_001394783.1:p.Tyr1094fs frameshift NM_001407858.1:c.3279del NP_001394787.1:p.Tyr1094fs frameshift NM_001407859.1:c.3279del NP_001394788.1:p.Tyr1094fs frameshift NM_001407860.1:c.3276del NP_001394789.1:p.Tyr1093fs frameshift NM_001407861.1:c.3276del NP_001394790.1:p.Tyr1093fs frameshift NM_001407862.1:c.3078del NP_001394791.1:p.Tyr1027fs frameshift NM_001407863.1:c.3156del NP_001394792.1:p.Tyr1053fs frameshift NM_001407874.1:c.3075del NP_001394803.1:p.Tyr1026fs frameshift NM_001407875.1:c.3075del NP_001394804.1:p.Tyr1026fs frameshift NM_001407879.1:c.3069del NP_001394808.1:p.Tyr1024fs frameshift NM_001407881.1:c.3069del NP_001394810.1:p.Tyr1024fs frameshift NM_001407882.1:c.3069del NP_001394811.1:p.Tyr1024fs frameshift NM_001407884.1:c.3069del NP_001394813.1:p.Tyr1024fs frameshift NM_001407885.1:c.3069del NP_001394814.1:p.Tyr1024fs frameshift NM_001407886.1:c.3069del NP_001394815.1:p.Tyr1024fs frameshift NM_001407887.1:c.3069del NP_001394816.1:p.Tyr1024fs frameshift NM_001407889.1:c.3069del NP_001394818.1:p.Tyr1024fs frameshift NM_001407894.1:c.3066del NP_001394823.1:p.Tyr1023fs frameshift NM_001407895.1:c.3066del NP_001394824.1:p.Tyr1023fs frameshift NM_001407896.1:c.3066del NP_001394825.1:p.Tyr1023fs frameshift NM_001407897.1:c.3066del NP_001394826.1:p.Tyr1023fs frameshift NM_001407898.1:c.3066del NP_001394827.1:p.Tyr1023fs frameshift NM_001407899.1:c.3066del NP_001394828.1:p.Tyr1023fs frameshift NM_001407900.1:c.3069del NP_001394829.1:p.Tyr1024fs frameshift NM_001407902.1:c.3069del NP_001394831.1:p.Tyr1024fs frameshift NM_001407904.1:c.3069del NP_001394833.1:p.Tyr1024fs frameshift NM_001407906.1:c.3069del NP_001394835.1:p.Tyr1024fs frameshift NM_001407907.1:c.3069del NP_001394836.1:p.Tyr1024fs frameshift NM_001407908.1:c.3069del NP_001394837.1:p.Tyr1024fs frameshift NM_001407909.1:c.3069del NP_001394838.1:p.Tyr1024fs frameshift NM_001407910.1:c.3069del NP_001394839.1:p.Tyr1024fs frameshift NM_001407915.1:c.3066del NP_001394844.1:p.Tyr1023fs frameshift NM_001407916.1:c.3066del NP_001394845.1:p.Tyr1023fs frameshift NM_001407917.1:c.3066del NP_001394846.1:p.Tyr1023fs frameshift NM_001407918.1:c.3066del NP_001394847.1:p.Tyr1023fs frameshift NM_001407919.1:c.3156del NP_001394848.1:p.Tyr1053fs frameshift NM_001407920.1:c.3015del NP_001394849.1:p.Tyr1006fs frameshift NM_001407921.1:c.3015del NP_001394850.1:p.Tyr1006fs frameshift NM_001407922.1:c.3015del NP_001394851.1:p.Tyr1006fs frameshift NM_001407923.1:c.3015del NP_001394852.1:p.Tyr1006fs frameshift NM_001407924.1:c.3015del NP_001394853.1:p.Tyr1006fs frameshift NM_001407925.1:c.3015del NP_001394854.1:p.Tyr1006fs frameshift NM_001407926.1:c.3015del NP_001394855.1:p.Tyr1006fs frameshift NM_001407927.1:c.3015del NP_001394856.1:p.Tyr1006fs frameshift NM_001407928.1:c.3015del NP_001394857.1:p.Tyr1006fs frameshift NM_001407929.1:c.3015del NP_001394858.1:p.Tyr1006fs frameshift NM_001407930.1:c.3012del NP_001394859.1:p.Tyr1005fs frameshift NM_001407931.1:c.3012del NP_001394860.1:p.Tyr1005fs frameshift NM_001407932.1:c.3012del NP_001394861.1:p.Tyr1005fs frameshift NM_001407933.1:c.3015del NP_001394862.1:p.Tyr1006fs frameshift NM_001407934.1:c.3012del NP_001394863.1:p.Tyr1005fs frameshift NM_001407935.1:c.3015del NP_001394864.1:p.Tyr1006fs frameshift NM_001407936.1:c.3012del NP_001394865.1:p.Tyr1005fs frameshift NM_001407937.1:c.3156del NP_001394866.1:p.Tyr1053fs frameshift NM_001407938.1:c.3156del NP_001394867.1:p.Tyr1053fs frameshift NM_001407939.1:c.3156del NP_001394868.1:p.Tyr1053fs frameshift NM_001407940.1:c.3153del NP_001394869.1:p.Tyr1052fs frameshift NM_001407941.1:c.3153del NP_001394870.1:p.Tyr1052fs frameshift NM_001407942.1:c.3138del NP_001394871.1:p.Tyr1047fs frameshift NM_001407943.1:c.3135del NP_001394872.1:p.Tyr1046fs frameshift NM_001407944.1:c.3138del NP_001394873.1:p.Tyr1047fs frameshift NM_001407945.1:c.3138del NP_001394874.1:p.Tyr1047fs frameshift NM_001407946.1:c.2946del NP_001394875.1:p.Tyr983fs frameshift NM_001407947.1:c.2946del NP_001394876.1:p.Tyr983fs frameshift NM_001407948.1:c.2946del NP_001394877.1:p.Tyr983fs frameshift NM_001407949.1:c.2946del NP_001394878.1:p.Tyr983fs frameshift NM_001407950.1:c.2946del NP_001394879.1:p.Tyr983fs frameshift NM_001407951.1:c.2946del NP_001394880.1:p.Tyr983fs frameshift NM_001407952.1:c.2946del NP_001394881.1:p.Tyr983fs frameshift NM_001407953.1:c.2946del NP_001394882.1:p.Tyr983fs frameshift NM_001407954.1:c.2943del NP_001394883.1:p.Tyr982fs frameshift NM_001407955.1:c.2943del NP_001394884.1:p.Tyr982fs frameshift NM_001407956.1:c.2943del NP_001394885.1:p.Tyr982fs frameshift NM_001407957.1:c.2946del NP_001394886.1:p.Tyr983fs frameshift NM_001407958.1:c.2943del NP_001394887.1:p.Tyr982fs frameshift NM_001407959.1:c.2898del NP_001394888.1:p.Tyr967fs frameshift NM_001407960.1:c.2898del NP_001394889.1:p.Tyr967fs frameshift NM_001407962.1:c.2895del NP_001394891.1:p.Tyr966fs frameshift NM_001407963.1:c.2898del NP_001394892.1:p.Tyr967fs frameshift NM_001407964.1:c.3135del NP_001394893.1:p.Tyr1046fs frameshift NM_001407965.1:c.2775del NP_001394894.1:p.Tyr926fs frameshift NM_001407966.1:c.2391del NP_001394895.1:p.Tyr798fs frameshift NM_001407967.1:c.2391del NP_001394896.1:p.Tyr798fs frameshift NM_001407968.1:c.788-113del intron variant NM_001407969.1:c.788-113del intron variant NM_001407970.1:c.788-1220del intron variant NM_001407971.1:c.788-1220del intron variant NM_001407972.1:c.785-1220del intron variant NM_001407973.1:c.788-1220del intron variant NM_001407974.1:c.788-1220del intron variant NM_001407975.1:c.788-1220del intron variant NM_001407976.1:c.788-1220del intron variant NM_001407977.1:c.788-1220del intron variant NM_001407978.1:c.788-1220del intron variant NM_001407979.1:c.788-1220del intron variant NM_001407980.1:c.788-1220del intron variant NM_001407981.1:c.788-1220del intron variant NM_001407982.1:c.788-1220del intron variant NM_001407983.1:c.788-1220del intron variant NM_001407984.1:c.785-1220del intron variant NM_001407985.1:c.785-1220del intron variant NM_001407986.1:c.785-1220del intron variant NM_001407990.1:c.788-1220del intron variant NM_001407991.1:c.785-1220del intron variant NM_001407992.1:c.785-1220del intron variant NM_001407993.1:c.788-1220del intron variant NM_001408392.1:c.785-1220del intron variant NM_001408396.1:c.785-1220del intron variant NM_001408397.1:c.785-1220del intron variant NM_001408398.1:c.785-1220del intron variant NM_001408399.1:c.785-1220del intron variant NM_001408400.1:c.785-1220del intron variant NM_001408401.1:c.785-1220del intron variant NM_001408402.1:c.785-1220del intron variant NM_001408403.1:c.788-1220del intron variant NM_001408404.1:c.788-1220del intron variant NM_001408406.1:c.791-1229del intron variant NM_001408407.1:c.785-1220del intron variant NM_001408408.1:c.779-1220del intron variant NM_001408409.1:c.710-1220del intron variant NM_001408410.1:c.647-1220del intron variant NM_001408411.1:c.710-1220del intron variant NM_001408412.1:c.710-1220del intron variant NM_001408413.1:c.707-1220del intron variant NM_001408414.1:c.710-1220del intron variant NM_001408415.1:c.710-1220del intron variant NM_001408416.1:c.707-1220del intron variant NM_001408418.1:c.671-1220del intron variant NM_001408419.1:c.671-1220del intron variant NM_001408420.1:c.671-1220del intron variant NM_001408421.1:c.668-1220del intron variant NM_001408422.1:c.671-1220del intron variant NM_001408423.1:c.671-1220del intron variant NM_001408424.1:c.668-1220del intron variant NM_001408425.1:c.665-1220del intron variant NM_001408426.1:c.665-1220del intron variant NM_001408427.1:c.665-1220del intron variant NM_001408428.1:c.665-1220del intron variant NM_001408429.1:c.665-1220del intron variant NM_001408430.1:c.665-1220del intron variant NM_001408431.1:c.668-1220del intron variant NM_001408432.1:c.662-1220del intron variant NM_001408433.1:c.662-1220del intron variant NM_001408434.1:c.662-1220del intron variant NM_001408435.1:c.662-1220del intron variant NM_001408436.1:c.665-1220del intron variant NM_001408437.1:c.665-1220del intron variant NM_001408438.1:c.665-1220del intron variant NM_001408439.1:c.665-1220del intron variant NM_001408440.1:c.665-1220del intron variant NM_001408441.1:c.665-1220del intron variant NM_001408442.1:c.665-1220del intron variant NM_001408443.1:c.665-1220del intron variant NM_001408444.1:c.665-1220del intron variant NM_001408445.1:c.662-1220del intron variant NM_001408446.1:c.662-1220del intron variant NM_001408447.1:c.662-1220del intron variant NM_001408448.1:c.662-1220del intron variant NM_001408450.1:c.662-1220del intron variant NM_001408451.1:c.653-1220del intron variant NM_001408452.1:c.647-1220del intron variant NM_001408453.1:c.647-1220del intron variant NM_001408454.1:c.647-1220del intron variant NM_001408455.1:c.647-1220del intron variant NM_001408456.1:c.647-1220del intron variant NM_001408457.1:c.647-1220del intron variant NM_001408458.1:c.647-1220del intron variant NM_001408459.1:c.647-1220del intron variant NM_001408460.1:c.647-1220del intron variant NM_001408461.1:c.647-1220del intron variant NM_001408462.1:c.644-1220del intron variant NM_001408463.1:c.644-1220del intron variant NM_001408464.1:c.644-1220del intron variant NM_001408465.1:c.644-1220del intron variant NM_001408466.1:c.647-1220del intron variant NM_001408467.1:c.647-1220del intron variant NM_001408468.1:c.644-1220del intron variant NM_001408469.1:c.647-1220del intron variant NM_001408470.1:c.644-1220del intron variant NM_001408472.1:c.788-1220del intron variant NM_001408473.1:c.785-1220del intron variant NM_001408474.1:c.587-1220del intron variant NM_001408475.1:c.584-1220del intron variant NM_001408476.1:c.587-1220del intron variant NM_001408478.1:c.578-1220del intron variant NM_001408479.1:c.578-1220del intron variant NM_001408480.1:c.578-1220del intron variant NM_001408481.1:c.578-1220del intron variant NM_001408482.1:c.578-1220del intron variant NM_001408483.1:c.578-1220del intron variant NM_001408484.1:c.578-1220del intron variant NM_001408485.1:c.578-1220del intron variant NM_001408489.1:c.578-1220del intron variant NM_001408490.1:c.575-1220del intron variant NM_001408491.1:c.575-1220del intron variant NM_001408492.1:c.578-1220del intron variant NM_001408493.1:c.575-1220del intron variant NM_001408494.1:c.548-1220del intron variant NM_001408495.1:c.545-1220del intron variant NM_001408496.1:c.524-1220del intron variant NM_001408497.1:c.524-1220del intron variant NM_001408498.1:c.524-1220del intron variant NM_001408499.1:c.524-1220del intron variant NM_001408500.1:c.524-1220del intron variant NM_001408501.1:c.524-1220del intron variant NM_001408502.1:c.455-1220del intron variant NM_001408503.1:c.521-1220del intron variant NM_001408504.1:c.521-1220del intron variant NM_001408505.1:c.521-1220del intron variant NM_001408506.1:c.461-1220del intron variant NM_001408507.1:c.461-1220del intron variant NM_001408508.1:c.452-1220del intron variant NM_001408509.1:c.452-1220del intron variant NM_001408510.1:c.407-1220del intron variant NM_001408511.1:c.404-1220del intron variant NM_001408512.1:c.284-1220del intron variant NM_001408513.1:c.578-1220del intron variant NM_001408514.1:c.578-1220del intron variant NM_007297.4:c.3138del NP_009228.2:p.Tyr1047fs frameshift NM_007298.4:c.788-1220del intron variant NM_007299.4:c.788-1220del intron variant NM_007300.4:c.3279del NP_009231.2:p.Tyr1094fs frameshift NR_027676.1:n.3415delC NC_000017.11:g.43092252del NC_000017.10:g.41244269del NG_005905.2:g.125732del NG_087068.1:g.1234del LRG_292:g.125732del LRG_292t1:c.3279del LRG_292p1:p.Tyr1094Ilefs U14680.1:n.3398delC - Protein change
- Y1047fs, Y1094fs, Y1052fs, Y1053fs, Y1091fs, Y967fs, Y982fs, Y983fs, Y1024fs, Y798fs, Y926fs, Y1005fs, Y1027fs, Y1093fs, Y966fs, Y1006fs, Y1023fs, Y1026fs, Y1046fs, Y1067fs, Y1068fs
- Other names
-
3398delC
- Canonical SPDI
- NC_000017.11:43092251:G:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
| 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. |
|---|---|---|---|---|
| Pathogenic (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112043.14 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Mar 20, 2017 | RCV000165817.12 | |
| Pathogenic (3) |
criteria provided, single submitter
|
Feb 3, 2021 | RCV000482423.12 | |
| Pathogenic (1) |
no assertion criteria provided
|
- | RCV000499817.11 | |
| Pathogenic (1) |
no assertion criteria provided
|
Aug 16, 2013 | RCV000735519.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 3, 2023 | RCV001387922.15 |
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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|---|---|---|---|---|---|
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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: SCV000299905.2
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
(Feb 17, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296428.2
First in ClinVar: Apr 01, 2014 Last updated: Jan 03, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325596.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Mar 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000216564.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The c.3279delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3279, causing … (more)
The c.3279delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3279, causing a translational frameshift with a predicted alternate stop codon (p.Y1094Ifs*15). This mutation has been identified in one HBOC kindred of Dutch descent as well as in one HBOC kindred of Moroccan descent in which the proband and her mother were diagnosed with breast cancer at ages 32 and 49, respectively (van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Tazzite A et al. Gynecol. Oncol., 2012 Jun;125:687-92). In addition 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
(Feb 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000568416.4
First in ClinVar: Apr 27, 2017 Last updated: Apr 27, 2017 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with breast and/or ovarian cancer (Tazzite 2012, El Ansari 2020); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as 3398delC; This variant is associated with the following publications: (PMID: 23289006, 16683254, 25814778, 25885115, 23697973, 24606420, 22425665, 32778078, 30263132) (less)
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Pathogenic
(Jan 03, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001588679.4
First in ClinVar: May 10, 2021 Last updated: Feb 20, 2024 |
Comment:
This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11897832, 16683254, 22425665). For these reasons, this variant has … (more)
This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11897832, 16683254, 22425665). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1094Ilefs*15) 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). (less)
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Pathogenic
(May 24, 2012)
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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: SCV000144696.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Berber
Geographic origin: Morocco
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Pathogenic
(Aug 16, 2013)
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no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863657.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591434.2 First in ClinVar: Aug 28, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Tyr1094IlefsX15 deletion variant was identified in 2 of 942 proband chromosomes (frequency 0.002) from Moroccan or Dutch breast and/or ovarian cancer families (Tazzite … (more)
The BRCA1 p.Tyr1094IlefsX15 deletion variant was identified in 2 of 942 proband chromosomes (frequency 0.002) from Moroccan or Dutch breast and/or ovarian cancer families (Tazzite 2012, van der Hout 2006). The variant was also identified in HGMD, UMD (4X as a causal variant), and once in the BIC database as a variant with clinical importance. The p.Tyr1094IlefsX15 deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1094 and leads to a premature stop codon 15 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906243.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740845.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
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Comment:
Comment:
The c.3279delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3279, causing a translational frameshift with a predicted alternate stop codon (p.Y1094Ifs*15). This mutation has been identified in one HBOC kindred of Dutch descent as well as in one HBOC kindred of Moroccan descent in which the proband and her mother were diagnosed with breast cancer at ages 32 and 49, respectively (van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Tazzite A et al. Gynecol. Oncol., 2012 Jun;125:687-92). In addition 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.
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with breast and/or ovarian cancer (Tazzite 2012, El Ansari 2020); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as 3398delC; This variant is associated with the following publications: (PMID: 23289006, 16683254, 25814778, 25885115, 23697973, 24606420, 22425665, 32778078, 30263132)
Comment:
This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11897832, 16683254, 22425665). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1094Ilefs*15) 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).
Comment:
The BRCA1 p.Tyr1094IlefsX15 deletion variant was identified in 2 of 942 proband chromosomes (frequency 0.002) from Moroccan or Dutch breast and/or ovarian cancer families (Tazzite 2012, van der Hout 2006). The variant was also identified in HGMD, UMD (4X as a causal variant), and once in the BIC database as a variant with clinical importance. The p.Tyr1094IlefsX15 deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1094 and leads to a premature stop codon 15 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The c.3279delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3279, causing a translational frameshift with a predicted alternate stop codon (p.Y1094Ifs*15). This mutation has been identified in one HBOC kindred of Dutch descent as well as in one HBOC kindred of Moroccan descent in which the proband and her mother were diagnosed with breast cancer at ages 32 and 49, respectively (van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Tazzite A et al. Gynecol. Oncol., 2012 Jun;125:687-92). In addition 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.
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with breast and/or ovarian cancer (Tazzite 2012, El Ansari 2020); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as 3398delC; This variant is associated with the following publications: (PMID: 23289006, 16683254, 25814778, 25885115, 23697973, 24606420, 22425665, 32778078, 30263132)
Comment:
This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11897832, 16683254, 22425665). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1094Ilefs*15) 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).
Comment:
The BRCA1 p.Tyr1094IlefsX15 deletion variant was identified in 2 of 942 proband chromosomes (frequency 0.002) from Moroccan or Dutch breast and/or ovarian cancer families (Tazzite 2012, van der Hout 2006). The variant was also identified in HGMD, UMD (4X as a causal variant), and once in the BIC database as a variant with clinical importance. The p.Tyr1094IlefsX15 deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1094 and leads to a premature stop codon 15 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients. | El Khachibi M | BMC cancer | 2015 | PMID: 25885115 |
| Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. | Laraqui A | International journal of medical sciences | 2013 | PMID: 23289006 |
| BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants. | Tazzite A | Gynecologic oncology | 2012 | PMID: 22425665 |
| 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 |
| A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
| Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. | Hamann U | Journal of medical genetics | 2002 | PMID: 11897832 |
Text-mined citations for rs397509050 ...
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Record last updated Nov 10, 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.