ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3870dup (p.Cys1291fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3870dup (p.Cys1291fs)
Variation ID: 2847355 Accession: VCV002847355.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091660-43091661 (GRCh38) [ NCBI UCSC ] 17: 41243677-41243678 (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 Feb 20, 2024 Feb 20, 2024 Mar 19, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3870dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys1291fs frameshift NM_001407571.1:c.3657dup NP_001394500.1:p.Cys1220fs frameshift NM_001407581.1:c.3870dup NP_001394510.1:p.Cys1291fs frameshift NM_001407582.1:c.3870dup NP_001394511.1:p.Cys1291fs frameshift NM_001407583.1:c.3870dup NP_001394512.1:p.Cys1291fs frameshift NM_001407585.1:c.3870dup NP_001394514.1:p.Cys1291fs frameshift NM_001407587.1:c.3867dup NP_001394516.1:p.Cys1290fs frameshift NM_001407590.1:c.3867dup NP_001394519.1:p.Cys1290fs frameshift NM_001407591.1:c.3867dup NP_001394520.1:p.Cys1290fs frameshift NM_001407593.1:c.3870dup NP_001394522.1:p.Cys1291fs frameshift NM_001407594.1:c.3870dup NP_001394523.1:p.Cys1291fs frameshift NM_001407596.1:c.3870dup NP_001394525.1:p.Cys1291fs frameshift NM_001407597.1:c.3870dup NP_001394526.1:p.Cys1291fs frameshift NM_001407598.1:c.3870dup NP_001394527.1:p.Cys1291fs frameshift NM_001407602.1:c.3870dup NP_001394531.1:p.Cys1291fs frameshift NM_001407603.1:c.3870dup NP_001394532.1:p.Cys1291fs frameshift NM_001407605.1:c.3870dup NP_001394534.1:p.Cys1291fs frameshift NM_001407610.1:c.3867dup NP_001394539.1:p.Cys1290fs frameshift NM_001407611.1:c.3867dup NP_001394540.1:p.Cys1290fs frameshift NM_001407612.1:c.3867dup NP_001394541.1:p.Cys1290fs frameshift NM_001407613.1:c.3867dup NP_001394542.1:p.Cys1290fs frameshift NM_001407614.1:c.3867dup NP_001394543.1:p.Cys1290fs frameshift NM_001407615.1:c.3867dup NP_001394544.1:p.Cys1290fs frameshift NM_001407616.1:c.3870dup NP_001394545.1:p.Cys1291fs frameshift NM_001407617.1:c.3870dup NP_001394546.1:p.Cys1291fs frameshift NM_001407618.1:c.3870dup NP_001394547.1:p.Cys1291fs frameshift NM_001407619.1:c.3870dup NP_001394548.1:p.Cys1291fs frameshift NM_001407620.1:c.3870dup NP_001394549.1:p.Cys1291fs frameshift NM_001407621.1:c.3870dup NP_001394550.1:p.Cys1291fs frameshift NM_001407622.1:c.3870dup NP_001394551.1:p.Cys1291fs frameshift NM_001407623.1:c.3870dup NP_001394552.1:p.Cys1291fs frameshift NM_001407624.1:c.3870dup NP_001394553.1:p.Cys1291fs frameshift NM_001407625.1:c.3870dup NP_001394554.1:p.Cys1291fs frameshift NM_001407626.1:c.3870dup NP_001394555.1:p.Cys1291fs frameshift NM_001407627.1:c.3867dup NP_001394556.1:p.Cys1290fs frameshift NM_001407628.1:c.3867dup NP_001394557.1:p.Cys1290fs frameshift NM_001407629.1:c.3867dup NP_001394558.1:p.Cys1290fs frameshift NM_001407630.1:c.3867dup NP_001394559.1:p.Cys1290fs frameshift NM_001407631.1:c.3867dup NP_001394560.1:p.Cys1290fs frameshift NM_001407632.1:c.3867dup NP_001394561.1:p.Cys1290fs frameshift NM_001407633.1:c.3867dup NP_001394562.1:p.Cys1290fs frameshift NM_001407634.1:c.3867dup NP_001394563.1:p.Cys1290fs frameshift NM_001407635.1:c.3867dup NP_001394564.1:p.Cys1290fs frameshift NM_001407636.1:c.3867dup NP_001394565.1:p.Cys1290fs frameshift NM_001407637.1:c.3867dup NP_001394566.1:p.Cys1290fs frameshift NM_001407638.1:c.3867dup NP_001394567.1:p.Cys1290fs frameshift NM_001407639.1:c.3870dup NP_001394568.1:p.Cys1291fs frameshift NM_001407640.1:c.3870dup NP_001394569.1:p.Cys1291fs frameshift NM_001407641.1:c.3870dup NP_001394570.1:p.Cys1291fs frameshift NM_001407642.1:c.3870dup NP_001394571.1:p.Cys1291fs frameshift NM_001407644.1:c.3867dup NP_001394573.1:p.Cys1290fs frameshift NM_001407645.1:c.3867dup NP_001394574.1:p.Cys1290fs frameshift NM_001407646.1:c.3861dup NP_001394575.1:p.Cys1288fs frameshift NM_001407647.1:c.3861dup NP_001394576.1:p.Cys1288fs frameshift NM_001407648.1:c.3747dup NP_001394577.1:p.Cys1250fs frameshift NM_001407649.1:c.3744dup NP_001394578.1:p.Cys1249fs frameshift NM_001407652.1:c.3870dup NP_001394581.1:p.Cys1291fs frameshift NM_001407653.1:c.3792dup NP_001394582.1:p.Cys1265fs frameshift NM_001407654.1:c.3792dup NP_001394583.1:p.Cys1265fs frameshift NM_001407655.1:c.3792dup NP_001394584.1:p.Cys1265fs frameshift NM_001407656.1:c.3792dup NP_001394585.1:p.Cys1265fs frameshift NM_001407657.1:c.3792dup NP_001394586.1:p.Cys1265fs frameshift NM_001407658.1:c.3792dup NP_001394587.1:p.Cys1265fs frameshift NM_001407659.1:c.3789dup NP_001394588.1:p.Cys1264fs frameshift NM_001407660.1:c.3789dup NP_001394589.1:p.Cys1264fs frameshift NM_001407661.1:c.3789dup NP_001394590.1:p.Cys1264fs frameshift NM_001407662.1:c.3789dup NP_001394591.1:p.Cys1264fs frameshift NM_001407663.1:c.3792dup NP_001394592.1:p.Cys1265fs frameshift NM_001407664.1:c.3747dup NP_001394593.1:p.Cys1250fs frameshift NM_001407665.1:c.3747dup NP_001394594.1:p.Cys1250fs frameshift NM_001407666.1:c.3747dup NP_001394595.1:p.Cys1250fs frameshift NM_001407667.1:c.3747dup NP_001394596.1:p.Cys1250fs frameshift NM_001407668.1:c.3747dup NP_001394597.1:p.Cys1250fs frameshift NM_001407669.1:c.3747dup NP_001394598.1:p.Cys1250fs frameshift NM_001407670.1:c.3744dup NP_001394599.1:p.Cys1249fs frameshift NM_001407671.1:c.3744dup NP_001394600.1:p.Cys1249fs frameshift NM_001407672.1:c.3744dup NP_001394601.1:p.Cys1249fs frameshift NM_001407673.1:c.3744dup NP_001394602.1:p.Cys1249fs frameshift NM_001407674.1:c.3747dup NP_001394603.1:p.Cys1250fs frameshift NM_001407675.1:c.3747dup NP_001394604.1:p.Cys1250fs frameshift NM_001407676.1:c.3747dup NP_001394605.1:p.Cys1250fs frameshift NM_001407677.1:c.3747dup NP_001394606.1:p.Cys1250fs frameshift NM_001407678.1:c.3747dup NP_001394607.1:p.Cys1250fs frameshift NM_001407679.1:c.3747dup NP_001394608.1:p.Cys1250fs frameshift NM_001407680.1:c.3747dup NP_001394609.1:p.Cys1250fs frameshift NM_001407681.1:c.3747dup NP_001394610.1:p.Cys1250fs frameshift NM_001407682.1:c.3747dup NP_001394611.1:p.Cys1250fs frameshift NM_001407683.1:c.3747dup NP_001394612.1:p.Cys1250fs frameshift NM_001407684.1:c.3870dup NP_001394613.1:p.Cys1291fs frameshift NM_001407685.1:c.3744dup NP_001394614.1:p.Cys1249fs frameshift NM_001407686.1:c.3744dup NP_001394615.1:p.Cys1249fs frameshift NM_001407687.1:c.3744dup NP_001394616.1:p.Cys1249fs frameshift NM_001407688.1:c.3744dup NP_001394617.1:p.Cys1249fs frameshift NM_001407689.1:c.3744dup NP_001394618.1:p.Cys1249fs frameshift NM_001407690.1:c.3744dup NP_001394619.1:p.Cys1249fs frameshift NM_001407691.1:c.3744dup NP_001394620.1:p.Cys1249fs frameshift NM_001407692.1:c.3729dup NP_001394621.1:p.Cys1244fs frameshift NM_001407694.1:c.3729dup NP_001394623.1:p.Cys1244fs frameshift NM_001407695.1:c.3729dup NP_001394624.1:p.Cys1244fs frameshift NM_001407696.1:c.3729dup NP_001394625.1:p.Cys1244fs frameshift NM_001407697.1:c.3729dup NP_001394626.1:p.Cys1244fs frameshift NM_001407698.1:c.3729dup NP_001394627.1:p.Cys1244fs frameshift NM_001407724.1:c.3729dup NP_001394653.1:p.Cys1244fs frameshift NM_001407725.1:c.3729dup NP_001394654.1:p.Cys1244fs frameshift NM_001407726.1:c.3729dup NP_001394655.1:p.Cys1244fs frameshift NM_001407727.1:c.3729dup NP_001394656.1:p.Cys1244fs frameshift NM_001407728.1:c.3729dup NP_001394657.1:p.Cys1244fs frameshift NM_001407729.1:c.3729dup NP_001394658.1:p.Cys1244fs frameshift NM_001407730.1:c.3729dup NP_001394659.1:p.Cys1244fs frameshift NM_001407731.1:c.3729dup NP_001394660.1:p.Cys1244fs frameshift NM_001407732.1:c.3729dup NP_001394661.1:p.Cys1244fs frameshift NM_001407733.1:c.3729dup NP_001394662.1:p.Cys1244fs frameshift NM_001407734.1:c.3729dup NP_001394663.1:p.Cys1244fs frameshift NM_001407735.1:c.3729dup NP_001394664.1:p.Cys1244fs frameshift NM_001407736.1:c.3729dup NP_001394665.1:p.Cys1244fs frameshift NM_001407737.1:c.3729dup NP_001394666.1:p.Cys1244fs frameshift NM_001407738.1:c.3729dup NP_001394667.1:p.Cys1244fs frameshift NM_001407739.1:c.3729dup NP_001394668.1:p.Cys1244fs frameshift NM_001407740.1:c.3726dup NP_001394669.1:p.Cys1243fs frameshift NM_001407741.1:c.3726dup NP_001394670.1:p.Cys1243fs frameshift NM_001407742.1:c.3726dup NP_001394671.1:p.Cys1243fs frameshift NM_001407743.1:c.3726dup NP_001394672.1:p.Cys1243fs frameshift NM_001407744.1:c.3726dup NP_001394673.1:p.Cys1243fs frameshift NM_001407745.1:c.3726dup NP_001394674.1:p.Cys1243fs frameshift NM_001407746.1:c.3726dup NP_001394675.1:p.Cys1243fs frameshift NM_001407747.1:c.3726dup NP_001394676.1:p.Cys1243fs frameshift NM_001407748.1:c.3726dup NP_001394677.1:p.Cys1243fs frameshift NM_001407749.1:c.3726dup NP_001394678.1:p.Cys1243fs frameshift NM_001407750.1:c.3729dup NP_001394679.1:p.Cys1244fs frameshift NM_001407751.1:c.3729dup NP_001394680.1:p.Cys1244fs frameshift NM_001407752.1:c.3729dup NP_001394681.1:p.Cys1244fs frameshift NM_001407838.1:c.3726dup NP_001394767.1:p.Cys1243fs frameshift NM_001407839.1:c.3726dup NP_001394768.1:p.Cys1243fs frameshift NM_001407841.1:c.3726dup NP_001394770.1:p.Cys1243fs frameshift NM_001407842.1:c.3726dup NP_001394771.1:p.Cys1243fs frameshift NM_001407843.1:c.3726dup NP_001394772.1:p.Cys1243fs frameshift NM_001407844.1:c.3726dup NP_001394773.1:p.Cys1243fs frameshift NM_001407845.1:c.3726dup NP_001394774.1:p.Cys1243fs frameshift NM_001407846.1:c.3726dup NP_001394775.1:p.Cys1243fs frameshift NM_001407847.1:c.3726dup NP_001394776.1:p.Cys1243fs frameshift NM_001407848.1:c.3726dup NP_001394777.1:p.Cys1243fs frameshift NM_001407849.1:c.3726dup NP_001394778.1:p.Cys1243fs frameshift NM_001407850.1:c.3729dup NP_001394779.1:p.Cys1244fs frameshift NM_001407851.1:c.3729dup NP_001394780.1:p.Cys1244fs frameshift NM_001407852.1:c.3729dup NP_001394781.1:p.Cys1244fs frameshift NM_001407853.1:c.3657dup NP_001394782.1:p.Cys1220fs frameshift NM_001407854.1:c.3870dup NP_001394783.1:p.Cys1291fs frameshift NM_001407858.1:c.3870dup NP_001394787.1:p.Cys1291fs frameshift NM_001407859.1:c.3870dup NP_001394788.1:p.Cys1291fs frameshift NM_001407860.1:c.3867dup NP_001394789.1:p.Cys1290fs frameshift NM_001407861.1:c.3867dup NP_001394790.1:p.Cys1290fs frameshift NM_001407862.1:c.3669dup NP_001394791.1:p.Cys1224fs frameshift NM_001407863.1:c.3747dup NP_001394792.1:p.Cys1250fs frameshift NM_001407874.1:c.3666dup NP_001394803.1:p.Cys1223fs frameshift NM_001407875.1:c.3666dup NP_001394804.1:p.Cys1223fs frameshift NM_001407879.1:c.3660dup NP_001394808.1:p.Cys1221fs frameshift NM_001407881.1:c.3660dup NP_001394810.1:p.Cys1221fs frameshift NM_001407882.1:c.3660dup NP_001394811.1:p.Cys1221fs frameshift NM_001407884.1:c.3660dup NP_001394813.1:p.Cys1221fs frameshift NM_001407885.1:c.3660dup NP_001394814.1:p.Cys1221fs frameshift NM_001407886.1:c.3660dup NP_001394815.1:p.Cys1221fs frameshift NM_001407887.1:c.3660dup NP_001394816.1:p.Cys1221fs frameshift NM_001407889.1:c.3660dup NP_001394818.1:p.Cys1221fs frameshift NM_001407894.1:c.3657dup NP_001394823.1:p.Cys1220fs frameshift NM_001407895.1:c.3657dup NP_001394824.1:p.Cys1220fs frameshift NM_001407896.1:c.3657dup NP_001394825.1:p.Cys1220fs frameshift NM_001407897.1:c.3657dup NP_001394826.1:p.Cys1220fs frameshift NM_001407898.1:c.3657dup NP_001394827.1:p.Cys1220fs frameshift NM_001407899.1:c.3657dup NP_001394828.1:p.Cys1220fs frameshift NM_001407900.1:c.3660dup NP_001394829.1:p.Cys1221fs frameshift NM_001407902.1:c.3660dup NP_001394831.1:p.Cys1221fs frameshift NM_001407904.1:c.3660dup NP_001394833.1:p.Cys1221fs frameshift NM_001407906.1:c.3660dup NP_001394835.1:p.Cys1221fs frameshift NM_001407907.1:c.3660dup NP_001394836.1:p.Cys1221fs frameshift NM_001407908.1:c.3660dup NP_001394837.1:p.Cys1221fs frameshift NM_001407909.1:c.3660dup NP_001394838.1:p.Cys1221fs frameshift NM_001407910.1:c.3660dup NP_001394839.1:p.Cys1221fs frameshift NM_001407915.1:c.3657dup NP_001394844.1:p.Cys1220fs frameshift NM_001407916.1:c.3657dup NP_001394845.1:p.Cys1220fs frameshift NM_001407917.1:c.3657dup NP_001394846.1:p.Cys1220fs frameshift NM_001407918.1:c.3657dup NP_001394847.1:p.Cys1220fs frameshift NM_001407919.1:c.3747dup NP_001394848.1:p.Cys1250fs frameshift NM_001407920.1:c.3606dup NP_001394849.1:p.Cys1203fs frameshift NM_001407921.1:c.3606dup NP_001394850.1:p.Cys1203fs frameshift NM_001407922.1:c.3606dup NP_001394851.1:p.Cys1203fs frameshift NM_001407923.1:c.3606dup NP_001394852.1:p.Cys1203fs frameshift NM_001407924.1:c.3606dup NP_001394853.1:p.Cys1203fs frameshift NM_001407925.1:c.3606dup NP_001394854.1:p.Cys1203fs frameshift NM_001407926.1:c.3606dup NP_001394855.1:p.Cys1203fs frameshift NM_001407927.1:c.3606dup NP_001394856.1:p.Cys1203fs frameshift NM_001407928.1:c.3606dup NP_001394857.1:p.Cys1203fs frameshift NM_001407929.1:c.3606dup NP_001394858.1:p.Cys1203fs frameshift NM_001407930.1:c.3603dup NP_001394859.1:p.Cys1202fs frameshift NM_001407931.1:c.3603dup NP_001394860.1:p.Cys1202fs frameshift NM_001407932.1:c.3603dup NP_001394861.1:p.Cys1202fs frameshift NM_001407933.1:c.3606dup NP_001394862.1:p.Cys1203fs frameshift NM_001407934.1:c.3603dup NP_001394863.1:p.Cys1202fs frameshift NM_001407935.1:c.3606dup NP_001394864.1:p.Cys1203fs frameshift NM_001407936.1:c.3603dup NP_001394865.1:p.Cys1202fs frameshift NM_001407937.1:c.3747dup NP_001394866.1:p.Cys1250fs frameshift NM_001407938.1:c.3747dup NP_001394867.1:p.Cys1250fs frameshift NM_001407939.1:c.3747dup NP_001394868.1:p.Cys1250fs frameshift NM_001407940.1:c.3744dup NP_001394869.1:p.Cys1249fs frameshift NM_001407941.1:c.3744dup NP_001394870.1:p.Cys1249fs frameshift NM_001407942.1:c.3729dup NP_001394871.1:p.Cys1244fs frameshift NM_001407943.1:c.3726dup NP_001394872.1:p.Cys1243fs frameshift NM_001407944.1:c.3729dup NP_001394873.1:p.Cys1244fs frameshift NM_001407945.1:c.3729dup NP_001394874.1:p.Cys1244fs frameshift NM_001407946.1:c.3537dup NP_001394875.1:p.Cys1180fs frameshift NM_001407947.1:c.3537dup NP_001394876.1:p.Cys1180fs frameshift NM_001407948.1:c.3537dup NP_001394877.1:p.Cys1180fs frameshift NM_001407949.1:c.3537dup NP_001394878.1:p.Cys1180fs frameshift NM_001407950.1:c.3537dup NP_001394879.1:p.Cys1180fs frameshift NM_001407951.1:c.3537dup NP_001394880.1:p.Cys1180fs frameshift NM_001407952.1:c.3537dup NP_001394881.1:p.Cys1180fs frameshift NM_001407953.1:c.3537dup NP_001394882.1:p.Cys1180fs frameshift NM_001407954.1:c.3534dup NP_001394883.1:p.Cys1179fs frameshift NM_001407955.1:c.3534dup NP_001394884.1:p.Cys1179fs frameshift NM_001407956.1:c.3534dup NP_001394885.1:p.Cys1179fs frameshift NM_001407957.1:c.3537dup NP_001394886.1:p.Cys1180fs frameshift NM_001407958.1:c.3534dup NP_001394887.1:p.Cys1179fs frameshift NM_001407959.1:c.3489dup NP_001394888.1:p.Cys1164fs frameshift NM_001407960.1:c.3489dup NP_001394889.1:p.Cys1164fs frameshift NM_001407962.1:c.3486dup NP_001394891.1:p.Cys1163fs frameshift NM_001407963.1:c.3489dup NP_001394892.1:p.Cys1164fs frameshift NM_001407964.1:c.3726dup NP_001394893.1:p.Cys1243fs frameshift NM_001407965.1:c.3366dup NP_001394894.1:p.Cys1123fs frameshift NM_001407966.1:c.2982dup NP_001394895.1:p.Cys995fs frameshift NM_001407967.1:c.2982dup NP_001394896.1:p.Cys995fs frameshift NM_001407968.1:c.1266dup NP_001394897.1:p.Cys423fs frameshift NM_001407969.1:c.1266dup NP_001394898.1:p.Cys423fs frameshift NM_001407970.1:c.788-629dup intron variant NM_001407971.1:c.788-629dup intron variant NM_001407972.1:c.785-629dup intron variant NM_001407973.1:c.788-629dup intron variant NM_001407974.1:c.788-629dup intron variant NM_001407975.1:c.788-629dup intron variant NM_001407976.1:c.788-629dup intron variant NM_001407977.1:c.788-629dup intron variant NM_001407978.1:c.788-629dup intron variant NM_001407979.1:c.788-629dup intron variant NM_001407980.1:c.788-629dup intron variant NM_001407981.1:c.788-629dup intron variant NM_001407982.1:c.788-629dup intron variant NM_001407983.1:c.788-629dup intron variant NM_001407984.1:c.785-629dup intron variant NM_001407985.1:c.785-629dup intron variant NM_001407986.1:c.785-629dup intron variant NM_001407990.1:c.788-629dup intron variant NM_001407991.1:c.785-629dup intron variant NM_001407992.1:c.785-629dup intron variant NM_001407993.1:c.788-629dup intron variant NM_001408392.1:c.785-629dup intron variant NM_001408396.1:c.785-629dup intron variant NM_001408397.1:c.785-629dup intron variant NM_001408398.1:c.785-629dup intron variant NM_001408399.1:c.785-629dup intron variant NM_001408400.1:c.785-629dup intron variant NM_001408401.1:c.785-629dup intron variant NM_001408402.1:c.785-629dup intron variant NM_001408403.1:c.788-629dup intron variant NM_001408404.1:c.788-629dup intron variant NM_001408406.1:c.791-638dup intron variant NM_001408407.1:c.785-629dup intron variant NM_001408408.1:c.779-629dup intron variant NM_001408409.1:c.710-629dup intron variant NM_001408410.1:c.647-629dup intron variant NM_001408411.1:c.710-629dup intron variant NM_001408412.1:c.710-629dup intron variant NM_001408413.1:c.707-629dup intron variant NM_001408414.1:c.710-629dup intron variant NM_001408415.1:c.710-629dup intron variant NM_001408416.1:c.707-629dup intron variant NM_001408418.1:c.671-629dup intron variant NM_001408419.1:c.671-629dup intron variant NM_001408420.1:c.671-629dup intron variant NM_001408421.1:c.668-629dup intron variant NM_001408422.1:c.671-629dup intron variant NM_001408423.1:c.671-629dup intron variant NM_001408424.1:c.668-629dup intron variant NM_001408425.1:c.665-629dup intron variant NM_001408426.1:c.665-629dup intron variant NM_001408427.1:c.665-629dup intron variant NM_001408428.1:c.665-629dup intron variant NM_001408429.1:c.665-629dup intron variant NM_001408430.1:c.665-629dup intron variant NM_001408431.1:c.668-629dup intron variant NM_001408432.1:c.662-629dup intron variant NM_001408433.1:c.662-629dup intron variant NM_001408434.1:c.662-629dup intron variant NM_001408435.1:c.662-629dup intron variant NM_001408436.1:c.665-629dup intron variant NM_001408437.1:c.665-629dup intron variant NM_001408438.1:c.665-629dup intron variant NM_001408439.1:c.665-629dup intron variant NM_001408440.1:c.665-629dup intron variant NM_001408441.1:c.665-629dup intron variant NM_001408442.1:c.665-629dup intron variant NM_001408443.1:c.665-629dup intron variant NM_001408444.1:c.665-629dup intron variant NM_001408445.1:c.662-629dup intron variant NM_001408446.1:c.662-629dup intron variant NM_001408447.1:c.662-629dup intron variant NM_001408448.1:c.662-629dup intron variant NM_001408450.1:c.662-629dup intron variant NM_001408451.1:c.653-629dup intron variant NM_001408452.1:c.647-629dup intron variant NM_001408453.1:c.647-629dup intron variant NM_001408454.1:c.647-629dup intron variant NM_001408455.1:c.647-629dup intron variant NM_001408456.1:c.647-629dup intron variant NM_001408457.1:c.647-629dup intron variant NM_001408458.1:c.647-629dup intron variant NM_001408459.1:c.647-629dup intron variant NM_001408460.1:c.647-629dup intron variant NM_001408461.1:c.647-629dup intron variant NM_001408462.1:c.644-629dup intron variant NM_001408463.1:c.644-629dup intron variant NM_001408464.1:c.644-629dup intron variant NM_001408465.1:c.644-629dup intron variant NM_001408466.1:c.647-629dup intron variant NM_001408467.1:c.647-629dup intron variant NM_001408468.1:c.644-629dup intron variant NM_001408469.1:c.647-629dup intron variant NM_001408470.1:c.644-629dup intron variant NM_001408472.1:c.788-629dup intron variant NM_001408473.1:c.785-629dup intron variant NM_001408474.1:c.587-629dup intron variant NM_001408475.1:c.584-629dup intron variant NM_001408476.1:c.587-629dup intron variant NM_001408478.1:c.578-629dup intron variant NM_001408479.1:c.578-629dup intron variant NM_001408480.1:c.578-629dup intron variant NM_001408481.1:c.578-629dup intron variant NM_001408482.1:c.578-629dup intron variant NM_001408483.1:c.578-629dup intron variant NM_001408484.1:c.578-629dup intron variant NM_001408485.1:c.578-629dup intron variant NM_001408489.1:c.578-629dup intron variant NM_001408490.1:c.575-629dup intron variant NM_001408491.1:c.575-629dup intron variant NM_001408492.1:c.578-629dup intron variant NM_001408493.1:c.575-629dup intron variant NM_001408494.1:c.548-629dup intron variant NM_001408495.1:c.545-629dup intron variant NM_001408496.1:c.524-629dup intron variant NM_001408497.1:c.524-629dup intron variant NM_001408498.1:c.524-629dup intron variant NM_001408499.1:c.524-629dup intron variant NM_001408500.1:c.524-629dup intron variant NM_001408501.1:c.524-629dup intron variant NM_001408502.1:c.455-629dup intron variant NM_001408503.1:c.521-629dup intron variant NM_001408504.1:c.521-629dup intron variant NM_001408505.1:c.521-629dup intron variant NM_001408506.1:c.461-629dup intron variant NM_001408507.1:c.461-629dup intron variant NM_001408508.1:c.452-629dup intron variant NM_001408509.1:c.452-629dup intron variant NM_001408510.1:c.407-629dup intron variant NM_001408511.1:c.404-629dup intron variant NM_001408512.1:c.284-629dup intron variant NM_001408513.1:c.578-629dup intron variant NM_001408514.1:c.578-629dup intron variant NM_007297.4:c.3729dup NP_009228.2:p.Cys1244fs frameshift NM_007298.4:c.788-629dup intron variant NM_007299.4:c.788-629dup intron variant NM_007300.4:c.3870dup NP_009231.2:p.Cys1291fs frameshift NR_027676.2:n.4044dup NC_000017.11:g.43091664dup NC_000017.10:g.41243681dup NG_005905.2:g.126323dup NG_087068.1:g.646dup LRG_292:g.126323dup LRG_292t1:c.3867dup LRG_292p1:p.Cys1291Metfs - Protein change
- C1180fs, C1250fs, C1163fs, C1179fs, C1224fs, C1243fs, C1244fs, C1291fs, C1123fs, C1164fs, C1202fs, C1220fs, C1221fs, C1265fs, C1288fs, C423fs, C1203fs, C1223fs, C1249fs, C1264fs, C1290fs, C995fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091660:TTTT:TTTTT
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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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- 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 | ||
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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 (1) |
criteria provided, single submitter
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Mar 19, 2023 | RCV003644568.2 |
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
(Mar 19, 2023)
|
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: SCV004445627.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1291Metfs*4) 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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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 |
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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 |
Text-mined citations for this variant ...
HelpRecord last updated Sep 30, 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.