ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)
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
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NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)
Variation ID: 266284 Accession: VCV000266284.9
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43104909 (GRCh38) [ NCBI UCSC ] 17: 41256926 (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 Oct 22, 2016 Feb 20, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.260T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu87Ter nonsense NM_001407571.1:c.50T>A NP_001394500.1:p.Leu17Ter nonsense NM_001407581.1:c.260T>A NP_001394510.1:p.Leu87Ter nonsense NM_001407582.1:c.260T>A NP_001394511.1:p.Leu87Ter nonsense NM_001407583.1:c.260T>A NP_001394512.1:p.Leu87Ter nonsense NM_001407585.1:c.260T>A NP_001394514.1:p.Leu87Ter nonsense NM_001407587.1:c.260T>A NP_001394516.1:p.Leu87Ter nonsense NM_001407590.1:c.260T>A NP_001394519.1:p.Leu87Ter nonsense NM_001407591.1:c.260T>A NP_001394520.1:p.Leu87Ter nonsense NM_001407593.1:c.260T>A NP_001394522.1:p.Leu87Ter nonsense NM_001407594.1:c.260T>A NP_001394523.1:p.Leu87Ter nonsense NM_001407596.1:c.260T>A NP_001394525.1:p.Leu87Ter nonsense NM_001407597.1:c.260T>A NP_001394526.1:p.Leu87Ter nonsense NM_001407598.1:c.260T>A NP_001394527.1:p.Leu87Ter nonsense NM_001407602.1:c.260T>A NP_001394531.1:p.Leu87Ter nonsense NM_001407603.1:c.260T>A NP_001394532.1:p.Leu87Ter nonsense NM_001407605.1:c.260T>A NP_001394534.1:p.Leu87Ter nonsense NM_001407610.1:c.260T>A NP_001394539.1:p.Leu87Ter nonsense NM_001407611.1:c.260T>A NP_001394540.1:p.Leu87Ter nonsense NM_001407612.1:c.260T>A NP_001394541.1:p.Leu87Ter nonsense NM_001407613.1:c.260T>A NP_001394542.1:p.Leu87Ter nonsense NM_001407614.1:c.260T>A NP_001394543.1:p.Leu87Ter nonsense NM_001407615.1:c.260T>A NP_001394544.1:p.Leu87Ter nonsense NM_001407616.1:c.260T>A NP_001394545.1:p.Leu87Ter nonsense NM_001407617.1:c.260T>A NP_001394546.1:p.Leu87Ter nonsense NM_001407618.1:c.260T>A NP_001394547.1:p.Leu87Ter nonsense NM_001407619.1:c.260T>A NP_001394548.1:p.Leu87Ter nonsense NM_001407620.1:c.260T>A NP_001394549.1:p.Leu87Ter nonsense NM_001407621.1:c.260T>A NP_001394550.1:p.Leu87Ter nonsense NM_001407622.1:c.260T>A NP_001394551.1:p.Leu87Ter nonsense NM_001407623.1:c.260T>A NP_001394552.1:p.Leu87Ter nonsense NM_001407624.1:c.260T>A NP_001394553.1:p.Leu87Ter nonsense NM_001407625.1:c.260T>A NP_001394554.1:p.Leu87Ter nonsense NM_001407626.1:c.260T>A NP_001394555.1:p.Leu87Ter nonsense NM_001407627.1:c.260T>A NP_001394556.1:p.Leu87Ter nonsense NM_001407628.1:c.260T>A NP_001394557.1:p.Leu87Ter nonsense NM_001407629.1:c.260T>A NP_001394558.1:p.Leu87Ter nonsense NM_001407630.1:c.260T>A NP_001394559.1:p.Leu87Ter nonsense NM_001407631.1:c.260T>A NP_001394560.1:p.Leu87Ter nonsense NM_001407632.1:c.260T>A NP_001394561.1:p.Leu87Ter nonsense NM_001407633.1:c.260T>A NP_001394562.1:p.Leu87Ter nonsense NM_001407634.1:c.260T>A NP_001394563.1:p.Leu87Ter nonsense NM_001407635.1:c.260T>A NP_001394564.1:p.Leu87Ter nonsense NM_001407636.1:c.260T>A NP_001394565.1:p.Leu87Ter nonsense NM_001407637.1:c.260T>A NP_001394566.1:p.Leu87Ter nonsense NM_001407638.1:c.260T>A NP_001394567.1:p.Leu87Ter nonsense NM_001407639.1:c.260T>A NP_001394568.1:p.Leu87Ter nonsense NM_001407640.1:c.260T>A NP_001394569.1:p.Leu87Ter nonsense NM_001407641.1:c.260T>A NP_001394570.1:p.Leu87Ter nonsense NM_001407642.1:c.260T>A NP_001394571.1:p.Leu87Ter nonsense NM_001407644.1:c.260T>A NP_001394573.1:p.Leu87Ter nonsense NM_001407645.1:c.260T>A NP_001394574.1:p.Leu87Ter nonsense NM_001407646.1:c.260T>A NP_001394575.1:p.Leu87Ter nonsense NM_001407647.1:c.260T>A NP_001394576.1:p.Leu87Ter nonsense NM_001407648.1:c.260T>A NP_001394577.1:p.Leu87Ter nonsense NM_001407649.1:c.260T>A NP_001394578.1:p.Leu87Ter nonsense NM_001407652.1:c.260T>A NP_001394581.1:p.Leu87Ter nonsense NM_001407653.1:c.182T>A NP_001394582.1:p.Leu61Ter nonsense NM_001407654.1:c.182T>A NP_001394583.1:p.Leu61Ter nonsense NM_001407655.1:c.182T>A NP_001394584.1:p.Leu61Ter nonsense NM_001407656.1:c.182T>A NP_001394585.1:p.Leu61Ter nonsense NM_001407657.1:c.182T>A NP_001394586.1:p.Leu61Ter nonsense NM_001407658.1:c.182T>A NP_001394587.1:p.Leu61Ter nonsense NM_001407659.1:c.182T>A NP_001394588.1:p.Leu61Ter nonsense NM_001407660.1:c.182T>A NP_001394589.1:p.Leu61Ter nonsense NM_001407661.1:c.182T>A NP_001394590.1:p.Leu61Ter nonsense NM_001407662.1:c.182T>A NP_001394591.1:p.Leu61Ter nonsense NM_001407663.1:c.182T>A NP_001394592.1:p.Leu61Ter nonsense NM_001407664.1:c.260T>A NP_001394593.1:p.Leu87Ter nonsense NM_001407665.1:c.260T>A NP_001394594.1:p.Leu87Ter nonsense NM_001407666.1:c.260T>A NP_001394595.1:p.Leu87Ter nonsense NM_001407667.1:c.260T>A NP_001394596.1:p.Leu87Ter nonsense NM_001407668.1:c.260T>A NP_001394597.1:p.Leu87Ter nonsense NM_001407669.1:c.260T>A NP_001394598.1:p.Leu87Ter nonsense NM_001407670.1:c.260T>A NP_001394599.1:p.Leu87Ter nonsense NM_001407671.1:c.260T>A NP_001394600.1:p.Leu87Ter nonsense NM_001407672.1:c.260T>A NP_001394601.1:p.Leu87Ter nonsense NM_001407673.1:c.260T>A NP_001394602.1:p.Leu87Ter nonsense NM_001407674.1:c.260T>A NP_001394603.1:p.Leu87Ter nonsense NM_001407675.1:c.260T>A NP_001394604.1:p.Leu87Ter nonsense NM_001407676.1:c.260T>A NP_001394605.1:p.Leu87Ter nonsense NM_001407677.1:c.260T>A NP_001394606.1:p.Leu87Ter nonsense NM_001407678.1:c.260T>A NP_001394607.1:p.Leu87Ter nonsense NM_001407679.1:c.260T>A NP_001394608.1:p.Leu87Ter nonsense NM_001407680.1:c.260T>A NP_001394609.1:p.Leu87Ter nonsense NM_001407681.1:c.260T>A NP_001394610.1:p.Leu87Ter nonsense NM_001407682.1:c.260T>A NP_001394611.1:p.Leu87Ter nonsense NM_001407683.1:c.260T>A NP_001394612.1:p.Leu87Ter nonsense NM_001407684.1:c.260T>A NP_001394613.1:p.Leu87Ter nonsense NM_001407685.1:c.260T>A NP_001394614.1:p.Leu87Ter nonsense NM_001407686.1:c.260T>A NP_001394615.1:p.Leu87Ter nonsense NM_001407687.1:c.260T>A NP_001394616.1:p.Leu87Ter nonsense NM_001407688.1:c.260T>A NP_001394617.1:p.Leu87Ter nonsense NM_001407689.1:c.260T>A NP_001394618.1:p.Leu87Ter nonsense NM_001407690.1:c.260T>A NP_001394619.1:p.Leu87Ter nonsense NM_001407691.1:c.260T>A NP_001394620.1:p.Leu87Ter nonsense NM_001407692.1:c.119T>A NP_001394621.1:p.Leu40Ter nonsense NM_001407694.1:c.119T>A NP_001394623.1:p.Leu40Ter nonsense NM_001407695.1:c.119T>A NP_001394624.1:p.Leu40Ter nonsense NM_001407696.1:c.119T>A NP_001394625.1:p.Leu40Ter nonsense NM_001407697.1:c.119T>A NP_001394626.1:p.Leu40Ter nonsense NM_001407698.1:c.119T>A NP_001394627.1:p.Leu40Ter nonsense NM_001407724.1:c.119T>A NP_001394653.1:p.Leu40Ter nonsense NM_001407725.1:c.119T>A NP_001394654.1:p.Leu40Ter nonsense NM_001407726.1:c.119T>A NP_001394655.1:p.Leu40Ter nonsense NM_001407727.1:c.119T>A NP_001394656.1:p.Leu40Ter nonsense NM_001407728.1:c.119T>A NP_001394657.1:p.Leu40Ter nonsense NM_001407729.1:c.119T>A NP_001394658.1:p.Leu40Ter nonsense NM_001407730.1:c.119T>A NP_001394659.1:p.Leu40Ter nonsense NM_001407731.1:c.119T>A NP_001394660.1:p.Leu40Ter nonsense NM_001407732.1:c.119T>A NP_001394661.1:p.Leu40Ter nonsense NM_001407733.1:c.119T>A NP_001394662.1:p.Leu40Ter nonsense NM_001407734.1:c.119T>A NP_001394663.1:p.Leu40Ter nonsense NM_001407735.1:c.119T>A NP_001394664.1:p.Leu40Ter nonsense NM_001407736.1:c.119T>A NP_001394665.1:p.Leu40Ter nonsense NM_001407737.1:c.119T>A NP_001394666.1:p.Leu40Ter nonsense NM_001407738.1:c.119T>A NP_001394667.1:p.Leu40Ter nonsense NM_001407739.1:c.119T>A NP_001394668.1:p.Leu40Ter nonsense NM_001407740.1:c.119T>A NP_001394669.1:p.Leu40Ter nonsense NM_001407741.1:c.119T>A NP_001394670.1:p.Leu40Ter nonsense NM_001407742.1:c.119T>A NP_001394671.1:p.Leu40Ter nonsense NM_001407743.1:c.119T>A NP_001394672.1:p.Leu40Ter nonsense NM_001407744.1:c.119T>A NP_001394673.1:p.Leu40Ter nonsense NM_001407745.1:c.119T>A NP_001394674.1:p.Leu40Ter nonsense NM_001407746.1:c.119T>A NP_001394675.1:p.Leu40Ter nonsense NM_001407747.1:c.119T>A NP_001394676.1:p.Leu40Ter nonsense NM_001407748.1:c.119T>A NP_001394677.1:p.Leu40Ter nonsense NM_001407749.1:c.119T>A NP_001394678.1:p.Leu40Ter nonsense NM_001407750.1:c.119T>A NP_001394679.1:p.Leu40Ter nonsense NM_001407751.1:c.119T>A NP_001394680.1:p.Leu40Ter nonsense NM_001407752.1:c.119T>A NP_001394681.1:p.Leu40Ter nonsense NM_001407838.1:c.119T>A NP_001394767.1:p.Leu40Ter nonsense NM_001407839.1:c.119T>A NP_001394768.1:p.Leu40Ter nonsense NM_001407841.1:c.119T>A NP_001394770.1:p.Leu40Ter nonsense NM_001407842.1:c.119T>A NP_001394771.1:p.Leu40Ter nonsense NM_001407843.1:c.119T>A NP_001394772.1:p.Leu40Ter nonsense NM_001407844.1:c.119T>A NP_001394773.1:p.Leu40Ter nonsense NM_001407845.1:c.119T>A NP_001394774.1:p.Leu40Ter nonsense NM_001407846.1:c.119T>A NP_001394775.1:p.Leu40Ter nonsense NM_001407847.1:c.119T>A NP_001394776.1:p.Leu40Ter nonsense NM_001407848.1:c.119T>A NP_001394777.1:p.Leu40Ter nonsense NM_001407849.1:c.119T>A NP_001394778.1:p.Leu40Ter nonsense NM_001407850.1:c.119T>A NP_001394779.1:p.Leu40Ter nonsense NM_001407851.1:c.119T>A NP_001394780.1:p.Leu40Ter nonsense NM_001407852.1:c.119T>A NP_001394781.1:p.Leu40Ter nonsense NM_001407853.1:c.50T>A NP_001394782.1:p.Leu17Ter nonsense NM_001407854.1:c.260T>A NP_001394783.1:p.Leu87Ter nonsense NM_001407858.1:c.260T>A NP_001394787.1:p.Leu87Ter nonsense NM_001407859.1:c.260T>A NP_001394788.1:p.Leu87Ter nonsense NM_001407860.1:c.260T>A NP_001394789.1:p.Leu87Ter nonsense NM_001407861.1:c.260T>A NP_001394790.1:p.Leu87Ter nonsense NM_001407862.1:c.182T>A NP_001394791.1:p.Leu61Ter nonsense NM_001407863.1:c.260T>A NP_001394792.1:p.Leu87Ter nonsense NM_001407874.1:c.182T>A NP_001394803.1:p.Leu61Ter nonsense NM_001407875.1:c.182T>A NP_001394804.1:p.Leu61Ter nonsense NM_001407879.1:c.50T>A NP_001394808.1:p.Leu17Ter nonsense NM_001407881.1:c.50T>A NP_001394810.1:p.Leu17Ter nonsense NM_001407882.1:c.50T>A NP_001394811.1:p.Leu17Ter nonsense NM_001407884.1:c.50T>A NP_001394813.1:p.Leu17Ter nonsense NM_001407885.1:c.50T>A NP_001394814.1:p.Leu17Ter nonsense NM_001407886.1:c.50T>A NP_001394815.1:p.Leu17Ter nonsense NM_001407887.1:c.50T>A NP_001394816.1:p.Leu17Ter nonsense NM_001407889.1:c.50T>A NP_001394818.1:p.Leu17Ter nonsense NM_001407894.1:c.50T>A NP_001394823.1:p.Leu17Ter nonsense NM_001407895.1:c.50T>A NP_001394824.1:p.Leu17Ter nonsense NM_001407896.1:c.50T>A NP_001394825.1:p.Leu17Ter nonsense NM_001407897.1:c.50T>A NP_001394826.1:p.Leu17Ter nonsense NM_001407898.1:c.50T>A NP_001394827.1:p.Leu17Ter nonsense NM_001407899.1:c.50T>A NP_001394828.1:p.Leu17Ter nonsense NM_001407900.1:c.50T>A NP_001394829.1:p.Leu17Ter nonsense NM_001407902.1:c.50T>A NP_001394831.1:p.Leu17Ter nonsense NM_001407904.1:c.50T>A NP_001394833.1:p.Leu17Ter nonsense NM_001407906.1:c.50T>A NP_001394835.1:p.Leu17Ter nonsense NM_001407907.1:c.50T>A NP_001394836.1:p.Leu17Ter nonsense NM_001407908.1:c.50T>A NP_001394837.1:p.Leu17Ter nonsense NM_001407909.1:c.50T>A NP_001394838.1:p.Leu17Ter nonsense NM_001407910.1:c.50T>A NP_001394839.1:p.Leu17Ter nonsense NM_001407915.1:c.50T>A NP_001394844.1:p.Leu17Ter nonsense NM_001407916.1:c.50T>A NP_001394845.1:p.Leu17Ter nonsense NM_001407917.1:c.50T>A NP_001394846.1:p.Leu17Ter nonsense NM_001407918.1:c.50T>A NP_001394847.1:p.Leu17Ter nonsense NM_001407919.1:c.260T>A NP_001394848.1:p.Leu87Ter nonsense NM_001407920.1:c.119T>A NP_001394849.1:p.Leu40Ter nonsense NM_001407921.1:c.119T>A NP_001394850.1:p.Leu40Ter nonsense NM_001407922.1:c.119T>A NP_001394851.1:p.Leu40Ter nonsense NM_001407923.1:c.119T>A NP_001394852.1:p.Leu40Ter nonsense NM_001407924.1:c.119T>A NP_001394853.1:p.Leu40Ter nonsense NM_001407925.1:c.119T>A NP_001394854.1:p.Leu40Ter nonsense NM_001407926.1:c.119T>A NP_001394855.1:p.Leu40Ter nonsense NM_001407927.1:c.119T>A NP_001394856.1:p.Leu40Ter nonsense NM_001407928.1:c.119T>A NP_001394857.1:p.Leu40Ter nonsense NM_001407929.1:c.119T>A NP_001394858.1:p.Leu40Ter nonsense NM_001407930.1:c.119T>A NP_001394859.1:p.Leu40Ter nonsense NM_001407931.1:c.119T>A NP_001394860.1:p.Leu40Ter nonsense NM_001407932.1:c.119T>A NP_001394861.1:p.Leu40Ter nonsense NM_001407933.1:c.119T>A NP_001394862.1:p.Leu40Ter nonsense NM_001407934.1:c.119T>A NP_001394863.1:p.Leu40Ter nonsense NM_001407935.1:c.119T>A NP_001394864.1:p.Leu40Ter nonsense NM_001407936.1:c.119T>A NP_001394865.1:p.Leu40Ter nonsense NM_001407937.1:c.260T>A NP_001394866.1:p.Leu87Ter nonsense NM_001407938.1:c.260T>A NP_001394867.1:p.Leu87Ter nonsense NM_001407939.1:c.260T>A NP_001394868.1:p.Leu87Ter nonsense NM_001407940.1:c.260T>A NP_001394869.1:p.Leu87Ter nonsense NM_001407941.1:c.260T>A NP_001394870.1:p.Leu87Ter nonsense NM_001407942.1:c.119T>A NP_001394871.1:p.Leu40Ter nonsense NM_001407943.1:c.119T>A NP_001394872.1:p.Leu40Ter nonsense NM_001407944.1:c.119T>A NP_001394873.1:p.Leu40Ter nonsense NM_001407945.1:c.119T>A NP_001394874.1:p.Leu40Ter nonsense NM_001407946.1:c.50T>A NP_001394875.1:p.Leu17Ter nonsense NM_001407947.1:c.50T>A NP_001394876.1:p.Leu17Ter nonsense NM_001407948.1:c.50T>A NP_001394877.1:p.Leu17Ter nonsense NM_001407949.1:c.50T>A NP_001394878.1:p.Leu17Ter nonsense NM_001407950.1:c.50T>A NP_001394879.1:p.Leu17Ter nonsense NM_001407951.1:c.50T>A NP_001394880.1:p.Leu17Ter nonsense NM_001407952.1:c.50T>A NP_001394881.1:p.Leu17Ter nonsense NM_001407953.1:c.50T>A NP_001394882.1:p.Leu17Ter nonsense NM_001407954.1:c.50T>A NP_001394883.1:p.Leu17Ter nonsense NM_001407955.1:c.50T>A NP_001394884.1:p.Leu17Ter nonsense NM_001407956.1:c.50T>A NP_001394885.1:p.Leu17Ter nonsense NM_001407957.1:c.50T>A NP_001394886.1:p.Leu17Ter nonsense NM_001407958.1:c.50T>A NP_001394887.1:p.Leu17Ter nonsense NM_001407959.1:c.-122T>A NM_001407960.1:c.-122T>A NM_001407962.1:c.-122T>A NM_001407963.1:c.-122T>A NM_001407964.1:c.119T>A NP_001394893.1:p.Leu40Ter nonsense NM_001407965.1:c.-122T>A NM_001407968.1:c.260T>A NP_001394897.1:p.Leu87Ter nonsense NM_001407969.1:c.260T>A NP_001394898.1:p.Leu87Ter nonsense NM_001407970.1:c.260T>A NP_001394899.1:p.Leu87Ter nonsense NM_001407971.1:c.260T>A NP_001394900.1:p.Leu87Ter nonsense NM_001407972.1:c.260T>A NP_001394901.1:p.Leu87Ter nonsense NM_001407973.1:c.260T>A NP_001394902.1:p.Leu87Ter nonsense NM_001407974.1:c.260T>A NP_001394903.1:p.Leu87Ter nonsense NM_001407975.1:c.260T>A NP_001394904.1:p.Leu87Ter nonsense NM_001407976.1:c.260T>A NP_001394905.1:p.Leu87Ter nonsense NM_001407977.1:c.260T>A NP_001394906.1:p.Leu87Ter nonsense NM_001407978.1:c.260T>A NP_001394907.1:p.Leu87Ter nonsense NM_001407979.1:c.260T>A NP_001394908.1:p.Leu87Ter nonsense NM_001407980.1:c.260T>A NP_001394909.1:p.Leu87Ter nonsense NM_001407981.1:c.260T>A NP_001394910.1:p.Leu87Ter nonsense NM_001407982.1:c.260T>A NP_001394911.1:p.Leu87Ter nonsense NM_001407983.1:c.260T>A NP_001394912.1:p.Leu87Ter nonsense NM_001407984.1:c.260T>A NP_001394913.1:p.Leu87Ter nonsense NM_001407985.1:c.260T>A NP_001394914.1:p.Leu87Ter nonsense NM_001407986.1:c.260T>A NP_001394915.1:p.Leu87Ter nonsense NM_001407990.1:c.260T>A NP_001394919.1:p.Leu87Ter nonsense NM_001407991.1:c.260T>A NP_001394920.1:p.Leu87Ter nonsense NM_001407992.1:c.260T>A NP_001394921.1:p.Leu87Ter nonsense NM_001407993.1:c.260T>A NP_001394922.1:p.Leu87Ter nonsense NM_001408392.1:c.260T>A NP_001395321.1:p.Leu87Ter nonsense NM_001408396.1:c.260T>A NP_001395325.1:p.Leu87Ter nonsense NM_001408397.1:c.260T>A NP_001395326.1:p.Leu87Ter nonsense NM_001408398.1:c.260T>A NP_001395327.1:p.Leu87Ter nonsense NM_001408399.1:c.260T>A NP_001395328.1:p.Leu87Ter nonsense NM_001408400.1:c.260T>A NP_001395329.1:p.Leu87Ter nonsense NM_001408401.1:c.260T>A NP_001395330.1:p.Leu87Ter nonsense NM_001408402.1:c.260T>A NP_001395331.1:p.Leu87Ter nonsense NM_001408403.1:c.260T>A NP_001395332.1:p.Leu87Ter nonsense NM_001408404.1:c.260T>A NP_001395333.1:p.Leu87Ter nonsense NM_001408406.1:c.260T>A NP_001395335.1:p.Leu87Ter nonsense NM_001408407.1:c.260T>A NP_001395336.1:p.Leu87Ter nonsense NM_001408408.1:c.260T>A NP_001395337.1:p.Leu87Ter nonsense NM_001408409.1:c.182T>A NP_001395338.1:p.Leu61Ter nonsense NM_001408410.1:c.119T>A NP_001395339.1:p.Leu40Ter nonsense NM_001408411.1:c.182T>A NP_001395340.1:p.Leu61Ter nonsense NM_001408412.1:c.182T>A NP_001395341.1:p.Leu61Ter nonsense NM_001408413.1:c.182T>A NP_001395342.1:p.Leu61Ter nonsense NM_001408414.1:c.182T>A NP_001395343.1:p.Leu61Ter nonsense NM_001408415.1:c.182T>A NP_001395344.1:p.Leu61Ter nonsense NM_001408416.1:c.182T>A NP_001395345.1:p.Leu61Ter nonsense NM_001408418.1:c.260T>A NP_001395347.1:p.Leu87Ter nonsense NM_001408419.1:c.260T>A NP_001395348.1:p.Leu87Ter nonsense NM_001408420.1:c.260T>A NP_001395349.1:p.Leu87Ter nonsense NM_001408421.1:c.260T>A NP_001395350.1:p.Leu87Ter nonsense NM_001408422.1:c.260T>A NP_001395351.1:p.Leu87Ter nonsense NM_001408423.1:c.260T>A NP_001395352.1:p.Leu87Ter nonsense NM_001408424.1:c.260T>A NP_001395353.1:p.Leu87Ter nonsense NM_001408425.1:c.260T>A NP_001395354.1:p.Leu87Ter nonsense NM_001408426.1:c.260T>A NP_001395355.1:p.Leu87Ter nonsense NM_001408427.1:c.260T>A NP_001395356.1:p.Leu87Ter nonsense NM_001408428.1:c.260T>A NP_001395357.1:p.Leu87Ter nonsense NM_001408429.1:c.260T>A NP_001395358.1:p.Leu87Ter nonsense NM_001408430.1:c.260T>A NP_001395359.1:p.Leu87Ter nonsense NM_001408431.1:c.260T>A NP_001395360.1:p.Leu87Ter nonsense NM_001408432.1:c.260T>A NP_001395361.1:p.Leu87Ter nonsense NM_001408433.1:c.260T>A NP_001395362.1:p.Leu87Ter nonsense NM_001408434.1:c.260T>A NP_001395363.1:p.Leu87Ter nonsense NM_001408435.1:c.260T>A NP_001395364.1:p.Leu87Ter nonsense NM_001408436.1:c.260T>A NP_001395365.1:p.Leu87Ter nonsense NM_001408437.1:c.260T>A NP_001395366.1:p.Leu87Ter nonsense NM_001408438.1:c.260T>A NP_001395367.1:p.Leu87Ter nonsense NM_001408439.1:c.260T>A NP_001395368.1:p.Leu87Ter nonsense NM_001408440.1:c.260T>A NP_001395369.1:p.Leu87Ter nonsense NM_001408441.1:c.260T>A NP_001395370.1:p.Leu87Ter nonsense NM_001408442.1:c.260T>A NP_001395371.1:p.Leu87Ter nonsense NM_001408443.1:c.260T>A NP_001395372.1:p.Leu87Ter nonsense NM_001408444.1:c.260T>A NP_001395373.1:p.Leu87Ter nonsense NM_001408445.1:c.260T>A NP_001395374.1:p.Leu87Ter nonsense NM_001408446.1:c.260T>A NP_001395375.1:p.Leu87Ter nonsense NM_001408447.1:c.260T>A NP_001395376.1:p.Leu87Ter nonsense NM_001408448.1:c.260T>A NP_001395377.1:p.Leu87Ter nonsense NM_001408450.1:c.260T>A NP_001395379.1:p.Leu87Ter nonsense NM_001408451.1:c.128T>A NP_001395380.1:p.Leu43Ter nonsense NM_001408452.1:c.119T>A NP_001395381.1:p.Leu40Ter nonsense NM_001408453.1:c.119T>A NP_001395382.1:p.Leu40Ter nonsense NM_001408454.1:c.119T>A NP_001395383.1:p.Leu40Ter nonsense NM_001408455.1:c.119T>A NP_001395384.1:p.Leu40Ter nonsense NM_001408456.1:c.119T>A NP_001395385.1:p.Leu40Ter nonsense NM_001408457.1:c.119T>A NP_001395386.1:p.Leu40Ter nonsense NM_001408458.1:c.119T>A NP_001395387.1:p.Leu40Ter nonsense NM_001408459.1:c.119T>A NP_001395388.1:p.Leu40Ter nonsense NM_001408460.1:c.119T>A NP_001395389.1:p.Leu40Ter nonsense NM_001408461.1:c.119T>A NP_001395390.1:p.Leu40Ter nonsense NM_001408462.1:c.119T>A NP_001395391.1:p.Leu40Ter nonsense NM_001408463.1:c.119T>A NP_001395392.1:p.Leu40Ter nonsense NM_001408464.1:c.119T>A NP_001395393.1:p.Leu40Ter nonsense NM_001408465.1:c.119T>A NP_001395394.1:p.Leu40Ter nonsense NM_001408466.1:c.119T>A NP_001395395.1:p.Leu40Ter nonsense NM_001408467.1:c.119T>A NP_001395396.1:p.Leu40Ter nonsense NM_001408468.1:c.119T>A NP_001395397.1:p.Leu40Ter nonsense NM_001408469.1:c.119T>A NP_001395398.1:p.Leu40Ter nonsense NM_001408470.1:c.119T>A NP_001395399.1:p.Leu40Ter nonsense NM_001408472.1:c.260T>A NP_001395401.1:p.Leu87Ter nonsense NM_001408473.1:c.260T>A NP_001395402.1:p.Leu87Ter nonsense NM_001408474.1:c.182T>A NP_001395403.1:p.Leu61Ter nonsense NM_001408475.1:c.182T>A NP_001395404.1:p.Leu61Ter nonsense NM_001408476.1:c.182T>A NP_001395405.1:p.Leu61Ter nonsense NM_001408478.1:c.50T>A NP_001395407.1:p.Leu17Ter nonsense NM_001408479.1:c.50T>A NP_001395408.1:p.Leu17Ter nonsense NM_001408480.1:c.50T>A NP_001395409.1:p.Leu17Ter nonsense NM_001408481.1:c.50T>A NP_001395410.1:p.Leu17Ter nonsense NM_001408482.1:c.50T>A NP_001395411.1:p.Leu17Ter nonsense NM_001408483.1:c.50T>A NP_001395412.1:p.Leu17Ter nonsense NM_001408484.1:c.50T>A NP_001395413.1:p.Leu17Ter nonsense NM_001408485.1:c.50T>A NP_001395414.1:p.Leu17Ter nonsense NM_001408489.1:c.50T>A NP_001395418.1:p.Leu17Ter nonsense NM_001408490.1:c.50T>A NP_001395419.1:p.Leu17Ter nonsense NM_001408491.1:c.50T>A NP_001395420.1:p.Leu17Ter nonsense NM_001408492.1:c.50T>A NP_001395421.1:p.Leu17Ter nonsense NM_001408493.1:c.50T>A NP_001395422.1:p.Leu17Ter nonsense NM_001408494.1:c.260T>A NP_001395423.1:p.Leu87Ter nonsense NM_001408495.1:c.260T>A NP_001395424.1:p.Leu87Ter nonsense NM_001408496.1:c.119T>A NP_001395425.1:p.Leu40Ter nonsense NM_001408497.1:c.119T>A NP_001395426.1:p.Leu40Ter nonsense NM_001408498.1:c.119T>A NP_001395427.1:p.Leu40Ter nonsense NM_001408499.1:c.119T>A NP_001395428.1:p.Leu40Ter nonsense NM_001408500.1:c.119T>A NP_001395429.1:p.Leu40Ter nonsense NM_001408501.1:c.119T>A NP_001395430.1:p.Leu40Ter nonsense NM_001408502.1:c.50T>A NP_001395431.1:p.Leu17Ter nonsense NM_001408503.1:c.119T>A NP_001395432.1:p.Leu40Ter nonsense NM_001408504.1:c.119T>A NP_001395433.1:p.Leu40Ter nonsense NM_001408505.1:c.119T>A NP_001395434.1:p.Leu40Ter nonsense NM_001408506.1:c.50T>A NP_001395435.1:p.Leu17Ter nonsense NM_001408507.1:c.50T>A NP_001395436.1:p.Leu17Ter nonsense NM_001408508.1:c.50T>A NP_001395437.1:p.Leu17Ter nonsense NM_001408509.1:c.50T>A NP_001395438.1:p.Leu17Ter nonsense NM_001408510.1:c.-122T>A NM_001408511.1:c.119T>A NP_001395440.1:p.Leu40Ter nonsense NM_001408512.1:c.-122T>A NM_001408513.1:c.50T>A NP_001395442.1:p.Leu17Ter nonsense NM_001408514.1:c.50T>A NP_001395443.1:p.Leu17Ter nonsense NM_007297.4:c.119T>A NP_009228.2:p.Leu40Ter nonsense NM_007298.4:c.260T>A NP_009229.2:p.Leu87Ter nonsense NM_007299.4:c.260T>A NP_009230.2:p.Leu87Ter nonsense NM_007300.4:c.260T>A NP_009231.2:p.Leu87Ter nonsense NM_007304.2:c.260T>A NP_009235.2:p.Leu87Ter nonsense NR_027676.2:n.440T>A non-coding transcript variant NC_000017.11:g.43104909A>T NC_000017.10:g.41256926A>T NG_005905.2:g.113075T>A LRG_292:g.113075T>A LRG_292t1:c.260T>A LRG_292p1:p.Leu87Ter - Protein change
- L87*, L40*, L43*, L61*, L17*
- Other names
- 379T>A
- Canonical SPDI
- NC_000017.11:43104908:A:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.260T>A, a NONSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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.
-
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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
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 (4) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256657.8 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 8, 2023 | RCV003644959.1 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Oct 18, 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: SCV000323486.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
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: SCV000325406.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Nov 08, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV004539035.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Leu87*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Leu87*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 266284). For these reasons, this variant has been classified as Pathogenic. (less)
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|
Pathogenic
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004244180.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001238548.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.97791548004045
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
---|---|---|---|---|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001238548.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.260T>A, a NONSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.260T>A, a NONSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
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 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs886040054 ...
HelpRecord last updated Mar 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.