ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5525del (p.Val1842fs)
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.5525del (p.Val1842fs)
Variation ID: 219716 Accession: VCV000219716.12
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045745 (GRCh38) [ NCBI UCSC ] 17: 41197762 (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 Feb 2, 2016 Feb 28, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5525del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1842fs frameshift NM_001407571.1:c.5312delT NP_001394500.1:p.Val1771Glufs frameshift NM_001407581.1:c.5591delT NP_001394510.1:p.Val1864Glufs frameshift NM_001407582.1:c.5591delT NP_001394511.1:p.Val1864Glufs frameshift NM_001407583.1:c.5588delT NP_001394512.1:p.Val1863Glufs frameshift NM_001407585.1:c.5588delT NP_001394514.1:p.Val1863Glufs frameshift NM_001407587.1:c.5588delT NP_001394516.1:p.Val1863Glufs frameshift NM_001407590.1:c.5585delT NP_001394519.1:p.Val1862Glufs frameshift NM_001407591.1:c.5585delT NP_001394520.1:p.Val1862Glufs frameshift NM_001407593.1:c.5525delT NP_001394522.1:p.Val1842Glufs frameshift NM_001407594.1:c.5525delT NP_001394523.1:p.Val1842Glufs frameshift NM_001407596.1:c.5525delT NP_001394525.1:p.Val1842Glufs frameshift NM_001407597.1:c.5525delT NP_001394526.1:p.Val1842Glufs frameshift NM_001407598.1:c.5525delT NP_001394527.1:p.Val1842Glufs frameshift NM_001407602.1:c.5525delT NP_001394531.1:p.Val1842Glufs frameshift NM_001407603.1:c.5525delT NP_001394532.1:p.Val1842Glufs frameshift NM_001407605.1:c.5525delT NP_001394534.1:p.Val1842Glufs frameshift NM_001407610.1:c.5522delT NP_001394539.1:p.Val1841Glufs frameshift NM_001407611.1:c.5522delT NP_001394540.1:p.Val1841Glufs frameshift NM_001407612.1:c.5522delT NP_001394541.1:p.Val1841Glufs frameshift NM_001407613.1:c.5522delT NP_001394542.1:p.Val1841Glufs frameshift NM_001407614.1:c.5522delT NP_001394543.1:p.Val1841Glufs frameshift NM_001407615.1:c.5522delT NP_001394544.1:p.Val1841Glufs frameshift NM_001407616.1:c.5522delT NP_001394545.1:p.Val1841Glufs frameshift NM_001407617.1:c.5522delT NP_001394546.1:p.Val1841Glufs frameshift NM_001407618.1:c.5522delT NP_001394547.1:p.Val1841Glufs frameshift NM_001407619.1:c.5522delT NP_001394548.1:p.Val1841Glufs frameshift NM_001407620.1:c.5522delT NP_001394549.1:p.Val1841Glufs frameshift NM_001407621.1:c.5522delT NP_001394550.1:p.Val1841Glufs frameshift NM_001407622.1:c.5522delT NP_001394551.1:p.Val1841Glufs frameshift NM_001407623.1:c.5522delT NP_001394552.1:p.Val1841Glufs frameshift NM_001407624.1:c.5522delT NP_001394553.1:p.Val1841Glufs frameshift NM_001407625.1:c.5522delT NP_001394554.1:p.Val1841Glufs frameshift NM_001407626.1:c.5522delT NP_001394555.1:p.Val1841Glufs frameshift NM_001407627.1:c.5519delT NP_001394556.1:p.Val1840Glufs frameshift NM_001407628.1:c.5519delT NP_001394557.1:p.Val1840Glufs frameshift NM_001407629.1:c.5519delT NP_001394558.1:p.Val1840Glufs frameshift NM_001407630.1:c.5519delT NP_001394559.1:p.Val1840Glufs frameshift NM_001407631.1:c.5519delT NP_001394560.1:p.Val1840Glufs frameshift NM_001407632.1:c.5519delT NP_001394561.1:p.Val1840Glufs frameshift NM_001407633.1:c.5519delT NP_001394562.1:p.Val1840Glufs frameshift NM_001407634.1:c.5519delT NP_001394563.1:p.Val1840Glufs frameshift NM_001407635.1:c.5519delT NP_001394564.1:p.Val1840Glufs frameshift NM_001407636.1:c.5519delT NP_001394565.1:p.Val1840Glufs frameshift NM_001407637.1:c.5519delT NP_001394566.1:p.Val1840Glufs frameshift NM_001407638.1:c.5519delT NP_001394567.1:p.Val1840Glufs frameshift NM_001407639.1:c.5519delT NP_001394568.1:p.Val1840Glufs frameshift NM_001407640.1:c.5519delT NP_001394569.1:p.Val1840Glufs frameshift NM_001407641.1:c.5519delT NP_001394570.1:p.Val1840Glufs frameshift NM_001407642.1:c.5519delT NP_001394571.1:p.Val1840Glufs frameshift NM_001407644.1:c.5516delT NP_001394573.1:p.Val1839Glufs frameshift NM_001407645.1:c.5516delT NP_001394574.1:p.Val1839Glufs frameshift NM_001407646.1:c.5513delT NP_001394575.1:p.Val1838Glufs frameshift NM_001407647.1:c.5510delT NP_001394576.1:p.Val1837Glufs frameshift NM_001407648.1:c.5468delT NP_001394577.1:p.Val1823Glufs frameshift NM_001407649.1:c.5465delT NP_001394578.1:p.Val1822Glufs frameshift NM_001407652.1:c.5447delT NP_001394581.1:p.Val1816Glufs frameshift NM_001407653.1:c.5447delT NP_001394582.1:p.Val1816Glufs frameshift NM_001407654.1:c.5447delT NP_001394583.1:p.Val1816Glufs frameshift NM_001407655.1:c.5447delT NP_001394584.1:p.Val1816Glufs frameshift NM_001407656.1:c.5444delT NP_001394585.1:p.Val1815Glufs frameshift NM_001407657.1:c.5444delT NP_001394586.1:p.Val1815Glufs frameshift NM_001407658.1:c.5444delT NP_001394587.1:p.Val1815Glufs frameshift NM_001407659.1:c.5441delT NP_001394588.1:p.Val1814Glufs frameshift NM_001407660.1:c.5441delT NP_001394589.1:p.Val1814Glufs frameshift NM_001407661.1:c.5441delT NP_001394590.1:p.Val1814Glufs frameshift NM_001407662.1:c.5441delT NP_001394591.1:p.Val1814Glufs frameshift NM_001407663.1:c.5441delT NP_001394592.1:p.Val1814Glufs frameshift NM_001407664.1:c.5402delT NP_001394593.1:p.Val1801Glufs frameshift NM_001407665.1:c.5402delT NP_001394594.1:p.Val1801Glufs frameshift NM_001407666.1:c.5402delT NP_001394595.1:p.Val1801Glufs frameshift NM_001407667.1:c.5402delT NP_001394596.1:p.Val1801Glufs frameshift NM_001407668.1:c.5402delT NP_001394597.1:p.Val1801Glufs frameshift NM_001407669.1:c.5402delT NP_001394598.1:p.Val1801Glufs frameshift NM_001407670.1:c.5399delT NP_001394599.1:p.Val1800Glufs frameshift NM_001407671.1:c.5399delT NP_001394600.1:p.Val1800Glufs frameshift NM_001407672.1:c.5399delT NP_001394601.1:p.Val1800Glufs frameshift NM_001407673.1:c.5399delT NP_001394602.1:p.Val1800Glufs frameshift NM_001407674.1:c.5399delT NP_001394603.1:p.Val1800Glufs frameshift NM_001407675.1:c.5399delT NP_001394604.1:p.Val1800Glufs frameshift NM_001407676.1:c.5399delT NP_001394605.1:p.Val1800Glufs frameshift NM_001407677.1:c.5399delT NP_001394606.1:p.Val1800Glufs frameshift NM_001407678.1:c.5399delT NP_001394607.1:p.Val1800Glufs frameshift NM_001407679.1:c.5399delT NP_001394608.1:p.Val1800Glufs frameshift NM_001407680.1:c.5399delT NP_001394609.1:p.Val1800Glufs frameshift NM_001407681.1:c.5396delT NP_001394610.1:p.Val1799Glufs frameshift NM_001407682.1:c.5396delT NP_001394611.1:p.Val1799Glufs frameshift NM_001407683.1:c.5396delT NP_001394612.1:p.Val1799Glufs frameshift NM_001407684.1:c.5396delT NP_001394613.1:p.Val1799Glufs frameshift NM_001407685.1:c.5396delT NP_001394614.1:p.Val1799Glufs frameshift NM_001407686.1:c.5396delT NP_001394615.1:p.Val1799Glufs frameshift NM_001407687.1:c.5396delT NP_001394616.1:p.Val1799Glufs frameshift NM_001407688.1:c.5396delT NP_001394617.1:p.Val1799Glufs frameshift NM_001407689.1:c.5396delT NP_001394618.1:p.Val1799Glufs frameshift NM_001407690.1:c.5393delT NP_001394619.1:p.Val1798Glufs frameshift NM_001407691.1:c.5393delT NP_001394620.1:p.Val1798Glufs frameshift NM_001407692.1:c.5384delT NP_001394621.1:p.Val1795Glufs frameshift NM_001407694.1:c.5384delT NP_001394623.1:p.Val1795Glufs frameshift NM_001407695.1:c.5384delT NP_001394624.1:p.Val1795Glufs frameshift NM_001407696.1:c.5384delT NP_001394625.1:p.Val1795Glufs frameshift NM_001407697.1:c.5384delT NP_001394626.1:p.Val1795Glufs frameshift NM_001407698.1:c.5384delT NP_001394627.1:p.Val1795Glufs frameshift NM_001407724.1:c.5384delT NP_001394653.1:p.Val1795Glufs frameshift NM_001407725.1:c.5384delT NP_001394654.1:p.Val1795Glufs frameshift NM_001407726.1:c.5384delT NP_001394655.1:p.Val1795Glufs frameshift NM_001407727.1:c.5384delT NP_001394656.1:p.Val1795Glufs frameshift NM_001407728.1:c.5384delT NP_001394657.1:p.Val1795Glufs frameshift NM_001407729.1:c.5384delT NP_001394658.1:p.Val1795Glufs frameshift NM_001407730.1:c.5384delT NP_001394659.1:p.Val1795Glufs frameshift NM_001407731.1:c.5384delT NP_001394660.1:p.Val1795Glufs frameshift NM_001407732.1:c.5381delT NP_001394661.1:p.Val1794Glufs frameshift NM_001407733.1:c.5381delT NP_001394662.1:p.Val1794Glufs frameshift NM_001407734.1:c.5381delT NP_001394663.1:p.Val1794Glufs frameshift NM_001407735.1:c.5381delT NP_001394664.1:p.Val1794Glufs frameshift NM_001407736.1:c.5381delT NP_001394665.1:p.Val1794Glufs frameshift NM_001407737.1:c.5381delT NP_001394666.1:p.Val1794Glufs frameshift NM_001407738.1:c.5381delT NP_001394667.1:p.Val1794Glufs frameshift NM_001407739.1:c.5381delT NP_001394668.1:p.Val1794Glufs frameshift NM_001407740.1:c.5381delT NP_001394669.1:p.Val1794Glufs frameshift NM_001407741.1:c.5381delT NP_001394670.1:p.Val1794Glufs frameshift NM_001407742.1:c.5381delT NP_001394671.1:p.Val1794Glufs frameshift NM_001407743.1:c.5381delT NP_001394672.1:p.Val1794Glufs frameshift NM_001407744.1:c.5381delT NP_001394673.1:p.Val1794Glufs frameshift NM_001407745.1:c.5381delT NP_001394674.1:p.Val1794Glufs frameshift NM_001407746.1:c.5381delT NP_001394675.1:p.Val1794Glufs frameshift NM_001407747.1:c.5381delT NP_001394676.1:p.Val1794Glufs frameshift NM_001407748.1:c.5381delT NP_001394677.1:p.Val1794Glufs frameshift NM_001407749.1:c.5381delT NP_001394678.1:p.Val1794Glufs frameshift NM_001407750.1:c.5381delT NP_001394679.1:p.Val1794Glufs frameshift NM_001407751.1:c.5381delT NP_001394680.1:p.Val1794Glufs frameshift NM_001407752.1:c.5381delT NP_001394681.1:p.Val1794Glufs frameshift NM_001407838.1:c.5378delT NP_001394767.1:p.Val1793Glufs frameshift NM_001407839.1:c.5378delT NP_001394768.1:p.Val1793Glufs frameshift NM_001407841.1:c.5378delT NP_001394770.1:p.Val1793Glufs frameshift NM_001407842.1:c.5378delT NP_001394771.1:p.Val1793Glufs frameshift NM_001407843.1:c.5378delT NP_001394772.1:p.Val1793Glufs frameshift NM_001407844.1:c.5378delT NP_001394773.1:p.Val1793Glufs frameshift NM_001407845.1:c.5378delT NP_001394774.1:p.Val1793Glufs frameshift NM_001407846.1:c.5378delT NP_001394775.1:p.Val1793Glufs frameshift NM_001407847.1:c.5378delT NP_001394776.1:p.Val1793Glufs frameshift NM_001407848.1:c.5378delT NP_001394777.1:p.Val1793Glufs frameshift NM_001407849.1:c.5378delT NP_001394778.1:p.Val1793Glufs frameshift NM_001407850.1:c.5378delT NP_001394779.1:p.Val1793Glufs frameshift NM_001407851.1:c.5378delT NP_001394780.1:p.Val1793Glufs frameshift NM_001407852.1:c.5378delT NP_001394781.1:p.Val1793Glufs frameshift NM_001407853.1:c.5378delT NP_001394782.1:p.Val1793Glufs frameshift NM_001407854.1:c.*39delT NM_001407858.1:c.*39delT NM_001407859.1:c.*39delT NM_001407860.1:c.*39delT NM_001407861.1:c.*39delT NM_001407862.1:c.5324delT NP_001394791.1:p.Val1775Glufs frameshift NM_001407863.1:c.5321delT NP_001394792.1:p.Val1774Glufs frameshift NM_001407874.1:c.5318delT NP_001394803.1:p.Val1773Glufs frameshift NM_001407875.1:c.5318delT NP_001394804.1:p.Val1773Glufs frameshift NM_001407879.1:c.5315delT NP_001394808.1:p.Val1772Glufs frameshift NM_001407881.1:c.5315delT NP_001394810.1:p.Val1772Glufs frameshift NM_001407882.1:c.5315delT NP_001394811.1:p.Val1772Glufs frameshift NM_001407884.1:c.5315delT NP_001394813.1:p.Val1772Glufs frameshift NM_001407885.1:c.5315delT NP_001394814.1:p.Val1772Glufs frameshift NM_001407886.1:c.5315delT NP_001394815.1:p.Val1772Glufs frameshift NM_001407887.1:c.5315delT NP_001394816.1:p.Val1772Glufs frameshift NM_001407889.1:c.5315delT NP_001394818.1:p.Val1772Glufs frameshift NM_001407894.1:c.5312delT NP_001394823.1:p.Val1771Glufs frameshift NM_001407895.1:c.5312delT NP_001394824.1:p.Val1771Glufs frameshift NM_001407896.1:c.5312delT NP_001394825.1:p.Val1771Glufs frameshift NM_001407897.1:c.5312delT NP_001394826.1:p.Val1771Glufs frameshift NM_001407898.1:c.5312delT NP_001394827.1:p.Val1771Glufs frameshift NM_001407899.1:c.5312delT NP_001394828.1:p.Val1771Glufs frameshift NM_001407900.1:c.5312delT NP_001394829.1:p.Val1771Glufs frameshift NM_001407902.1:c.5312delT NP_001394831.1:p.Val1771Glufs frameshift NM_001407904.1:c.5312delT NP_001394833.1:p.Val1771Glufs frameshift NM_001407906.1:c.5312delT NP_001394835.1:p.Val1771Glufs frameshift NM_001407907.1:c.5312delT NP_001394836.1:p.Val1771Glufs frameshift NM_001407908.1:c.5312delT NP_001394837.1:p.Val1771Glufs frameshift NM_001407909.1:c.5312delT NP_001394838.1:p.Val1771Glufs frameshift NM_001407910.1:c.5312delT NP_001394839.1:p.Val1771Glufs frameshift NM_001407915.1:c.5309delT NP_001394844.1:p.Val1770Glufs frameshift NM_001407916.1:c.5309delT NP_001394845.1:p.Val1770Glufs frameshift NM_001407917.1:c.5309delT NP_001394846.1:p.Val1770Glufs frameshift NM_001407918.1:c.5309delT NP_001394847.1:p.Val1770Glufs frameshift NM_001407919.1:c.5273delT NP_001394848.1:p.Val1758Glufs frameshift NM_001407920.1:c.5261delT NP_001394849.1:p.Val1754Glufs frameshift NM_001407921.1:c.5261delT NP_001394850.1:p.Val1754Glufs frameshift NM_001407922.1:c.5261delT NP_001394851.1:p.Val1754Glufs frameshift NM_001407923.1:c.5261delT NP_001394852.1:p.Val1754Glufs frameshift NM_001407924.1:c.5261delT NP_001394853.1:p.Val1754Glufs frameshift NM_001407925.1:c.5261delT NP_001394854.1:p.Val1754Glufs frameshift NM_001407926.1:c.5261delT NP_001394855.1:p.Val1754Glufs frameshift NM_001407927.1:c.5258delT NP_001394856.1:p.Val1753Glufs frameshift NM_001407928.1:c.5258delT NP_001394857.1:p.Val1753Glufs frameshift NM_001407929.1:c.5258delT NP_001394858.1:p.Val1753Glufs frameshift NM_001407930.1:c.5258delT NP_001394859.1:p.Val1753Glufs frameshift NM_001407931.1:c.5258delT NP_001394860.1:p.Val1753Glufs frameshift NM_001407932.1:c.5258delT NP_001394861.1:p.Val1753Glufs frameshift NM_001407933.1:c.5258delT NP_001394862.1:p.Val1753Glufs frameshift NM_001407934.1:c.5255delT NP_001394863.1:p.Val1752Glufs frameshift NM_001407935.1:c.5255delT NP_001394864.1:p.Val1752Glufs frameshift NM_001407936.1:c.5255delT NP_001394865.1:p.Val1752Glufs frameshift NM_001407937.1:c.*39delT NM_001407938.1:c.*39delT NM_001407939.1:c.*39delT NM_001407940.1:c.*39delT NM_001407941.1:c.*39delT NM_001407942.1:c.*39delT NM_001407943.1:c.*39delT NM_001407944.1:c.*39delT NM_001407945.1:c.*39delT NM_001407946.1:c.5192delT NP_001394875.1:p.Val1731Glufs frameshift NM_001407947.1:c.5192delT NP_001394876.1:p.Val1731Glufs frameshift NM_001407948.1:c.5192delT NP_001394877.1:p.Val1731Glufs frameshift NM_001407949.1:c.5192delT NP_001394878.1:p.Val1731Glufs frameshift NM_001407950.1:c.5189delT NP_001394879.1:p.Val1730Glufs frameshift NM_001407951.1:c.5189delT NP_001394880.1:p.Val1730Glufs frameshift NM_001407952.1:c.5189delT NP_001394881.1:p.Val1730Glufs frameshift NM_001407953.1:c.5189delT NP_001394882.1:p.Val1730Glufs frameshift NM_001407954.1:c.5189delT NP_001394883.1:p.Val1730Glufs frameshift NM_001407955.1:c.5189delT NP_001394884.1:p.Val1730Glufs frameshift NM_001407956.1:c.5186delT NP_001394885.1:p.Val1729Glufs frameshift NM_001407957.1:c.5186delT NP_001394886.1:p.Val1729Glufs frameshift NM_001407958.1:c.5186delT NP_001394887.1:p.Val1729Glufs frameshift NM_001407959.1:c.5144delT NP_001394888.1:p.Val1715Glufs frameshift NM_001407960.1:c.5141delT NP_001394889.1:p.Val1714Glufs frameshift NM_001407962.1:c.5141delT NP_001394891.1:p.Val1714Glufs frameshift NM_001407963.1:c.5138delT NP_001394892.1:p.Val1713Glufs frameshift NM_001407964.1:c.5063delT NP_001394893.1:p.Val1688Glufs frameshift NM_001407965.1:c.5018delT NP_001394894.1:p.Val1673Glufs frameshift NM_001407966.1:c.4637delT NP_001394895.1:p.Val1546Glufs frameshift NM_001407967.1:c.4634delT NP_001394896.1:p.Val1545Glufs frameshift NM_001407968.1:c.2921delT NP_001394897.1:p.Val974Glufs frameshift NM_001407969.1:c.2918delT NP_001394898.1:p.Val973Glufs frameshift NM_001407970.1:c.2282delT NP_001394899.1:p.Val761Glufs frameshift NM_001407971.1:c.2282delT NP_001394900.1:p.Val761Glufs frameshift NM_001407972.1:c.2279delT NP_001394901.1:p.Val760Glufs frameshift NM_001407973.1:c.2216delT NP_001394902.1:p.Val739Glufs frameshift NM_001407974.1:c.2216delT NP_001394903.1:p.Val739Glufs frameshift NM_001407975.1:c.2216delT NP_001394904.1:p.Val739Glufs frameshift NM_001407976.1:c.2216delT NP_001394905.1:p.Val739Glufs frameshift NM_001407977.1:c.2216delT NP_001394906.1:p.Val739Glufs frameshift NM_001407978.1:c.2216delT NP_001394907.1:p.Val739Glufs frameshift NM_001407979.1:c.2213delT NP_001394908.1:p.Val738Glufs frameshift NM_001407980.1:c.2213delT NP_001394909.1:p.Val738Glufs frameshift NM_001407981.1:c.2213delT NP_001394910.1:p.Val738Glufs frameshift NM_001407982.1:c.2213delT NP_001394911.1:p.Val738Glufs frameshift NM_001407983.1:c.2213delT NP_001394912.1:p.Val738Glufs frameshift NM_001407984.1:c.2213delT NP_001394913.1:p.Val738Glufs frameshift NM_001407985.1:c.2213delT NP_001394914.1:p.Val738Glufs frameshift NM_001407986.1:c.2213delT NP_001394915.1:p.Val738Glufs frameshift NM_001407990.1:c.2213delT NP_001394919.1:p.Val738Glufs frameshift NM_001407991.1:c.2213delT NP_001394920.1:p.Val738Glufs frameshift NM_001407992.1:c.2213delT NP_001394921.1:p.Val738Glufs frameshift NM_001407993.1:c.2213delT NP_001394922.1:p.Val738Glufs frameshift NM_001408392.1:c.2210delT NP_001395321.1:p.Val737Glufs frameshift NM_001408396.1:c.2210delT NP_001395325.1:p.Val737Glufs frameshift NM_001408397.1:c.2210delT NP_001395326.1:p.Val737Glufs frameshift NM_001408398.1:c.2210delT NP_001395327.1:p.Val737Glufs frameshift NM_001408399.1:c.2210delT NP_001395328.1:p.Val737Glufs frameshift NM_001408400.1:c.2210delT NP_001395329.1:p.Val737Glufs frameshift NM_001408401.1:c.2210delT NP_001395330.1:p.Val737Glufs frameshift NM_001408402.1:c.2210delT NP_001395331.1:p.Val737Glufs frameshift NM_001408403.1:c.2210delT NP_001395332.1:p.Val737Glufs frameshift NM_001408404.1:c.2210delT NP_001395333.1:p.Val737Glufs frameshift NM_001408406.1:c.2207delT NP_001395335.1:p.Val736Glufs frameshift NM_001408407.1:c.2207delT NP_001395336.1:p.Val736Glufs frameshift NM_001408408.1:c.2207delT NP_001395337.1:p.Val736Glufs frameshift NM_001408409.1:c.2204delT NP_001395338.1:p.Val735Glufs frameshift NM_001408410.1:c.2141delT NP_001395339.1:p.Val714Glufs frameshift NM_001408411.1:c.2138delT NP_001395340.1:p.Val713Glufs frameshift NM_001408412.1:c.2135delT NP_001395341.1:p.Val712Glufs frameshift NM_001408413.1:c.2135delT NP_001395342.1:p.Val712Glufs frameshift NM_001408414.1:c.2135delT NP_001395343.1:p.Val712Glufs frameshift NM_001408415.1:c.2135delT NP_001395344.1:p.Val712Glufs frameshift NM_001408416.1:c.2135delT NP_001395345.1:p.Val712Glufs frameshift NM_001408418.1:c.2099delT NP_001395347.1:p.Val700Glufs frameshift NM_001408419.1:c.2099delT NP_001395348.1:p.Val700Glufs frameshift NM_001408420.1:c.2099delT NP_001395349.1:p.Val700Glufs frameshift NM_001408421.1:c.2096delT NP_001395350.1:p.Val699Glufs frameshift NM_001408422.1:c.2096delT NP_001395351.1:p.Val699Glufs frameshift NM_001408423.1:c.2096delT NP_001395352.1:p.Val699Glufs frameshift NM_001408424.1:c.2096delT NP_001395353.1:p.Val699Glufs frameshift NM_001408425.1:c.2093delT NP_001395354.1:p.Val698Glufs frameshift NM_001408426.1:c.2093delT NP_001395355.1:p.Val698Glufs frameshift NM_001408427.1:c.2093delT NP_001395356.1:p.Val698Glufs frameshift NM_001408428.1:c.2093delT NP_001395357.1:p.Val698Glufs frameshift NM_001408429.1:c.2093delT NP_001395358.1:p.Val698Glufs frameshift NM_001408430.1:c.2093delT NP_001395359.1:p.Val698Glufs frameshift NM_001408431.1:c.2093delT NP_001395360.1:p.Val698Glufs frameshift NM_001408432.1:c.2090delT NP_001395361.1:p.Val697Glufs frameshift NM_001408433.1:c.2090delT NP_001395362.1:p.Val697Glufs frameshift NM_001408434.1:c.2090delT NP_001395363.1:p.Val697Glufs frameshift NM_001408435.1:c.2090delT NP_001395364.1:p.Val697Glufs frameshift NM_001408436.1:c.2090delT NP_001395365.1:p.Val697Glufs frameshift NM_001408437.1:c.2090delT NP_001395366.1:p.Val697Glufs frameshift NM_001408438.1:c.2090delT NP_001395367.1:p.Val697Glufs frameshift NM_001408439.1:c.2090delT NP_001395368.1:p.Val697Glufs frameshift NM_001408440.1:c.2090delT NP_001395369.1:p.Val697Glufs frameshift NM_001408441.1:c.2090delT NP_001395370.1:p.Val697Glufs frameshift NM_001408442.1:c.2090delT NP_001395371.1:p.Val697Glufs frameshift NM_001408443.1:c.2090delT NP_001395372.1:p.Val697Glufs frameshift NM_001408444.1:c.2090delT NP_001395373.1:p.Val697Glufs frameshift NM_001408445.1:c.2087delT NP_001395374.1:p.Val696Glufs frameshift NM_001408446.1:c.2087delT NP_001395375.1:p.Val696Glufs frameshift NM_001408447.1:c.2087delT NP_001395376.1:p.Val696Glufs frameshift NM_001408448.1:c.2087delT NP_001395377.1:p.Val696Glufs frameshift NM_001408450.1:c.2087delT NP_001395379.1:p.Val696Glufs frameshift NM_001408451.1:c.2081delT NP_001395380.1:p.Val694Glufs frameshift NM_001408452.1:c.2075delT NP_001395381.1:p.Val692Glufs frameshift NM_001408453.1:c.2075delT NP_001395382.1:p.Val692Glufs frameshift NM_001408454.1:c.2075delT NP_001395383.1:p.Val692Glufs frameshift NM_001408455.1:c.2075delT NP_001395384.1:p.Val692Glufs frameshift NM_001408456.1:c.2075delT NP_001395385.1:p.Val692Glufs frameshift NM_001408457.1:c.2075delT NP_001395386.1:p.Val692Glufs frameshift NM_001408458.1:c.2072delT NP_001395387.1:p.Val691Glufs frameshift NM_001408459.1:c.2072delT NP_001395388.1:p.Val691Glufs frameshift NM_001408460.1:c.2072delT NP_001395389.1:p.Val691Glufs frameshift NM_001408461.1:c.2072delT NP_001395390.1:p.Val691Glufs frameshift NM_001408462.1:c.2072delT NP_001395391.1:p.Val691Glufs frameshift NM_001408463.1:c.2072delT NP_001395392.1:p.Val691Glufs frameshift NM_001408464.1:c.2072delT NP_001395393.1:p.Val691Glufs frameshift NM_001408465.1:c.2072delT NP_001395394.1:p.Val691Glufs frameshift NM_001408466.1:c.2072delT NP_001395395.1:p.Val691Glufs frameshift NM_001408467.1:c.2072delT NP_001395396.1:p.Val691Glufs frameshift NM_001408468.1:c.2069delT NP_001395397.1:p.Val690Glufs frameshift NM_001408469.1:c.2069delT NP_001395398.1:p.Val690Glufs frameshift NM_001408470.1:c.2069delT NP_001395399.1:p.Val690Glufs frameshift NM_001408472.1:c.*39delT NM_001408473.1:c.*39delT NM_001408474.1:c.2015delT NP_001395403.1:p.Val672Glufs frameshift NM_001408475.1:c.2012delT NP_001395404.1:p.Val671Glufs frameshift NM_001408476.1:c.2012delT NP_001395405.1:p.Val671Glufs frameshift NM_001408478.1:c.2006delT NP_001395407.1:p.Val669Glufs frameshift NM_001408479.1:c.2006delT NP_001395408.1:p.Val669Glufs frameshift NM_001408480.1:c.2006delT NP_001395409.1:p.Val669Glufs frameshift NM_001408481.1:c.2003delT NP_001395410.1:p.Val668Glufs frameshift NM_001408482.1:c.2003delT NP_001395411.1:p.Val668Glufs frameshift NM_001408483.1:c.2003delT NP_001395412.1:p.Val668Glufs frameshift NM_001408484.1:c.2003delT NP_001395413.1:p.Val668Glufs frameshift NM_001408485.1:c.2003delT NP_001395414.1:p.Val668Glufs frameshift NM_001408489.1:c.2003delT NP_001395418.1:p.Val668Glufs frameshift NM_001408490.1:c.2003delT NP_001395419.1:p.Val668Glufs frameshift NM_001408491.1:c.2003delT NP_001395420.1:p.Val668Glufs frameshift NM_001408492.1:c.2000delT NP_001395421.1:p.Val667Glufs frameshift NM_001408493.1:c.2000delT NP_001395422.1:p.Val667Glufs frameshift NM_001408494.1:c.1976delT NP_001395423.1:p.Val659Glufs frameshift NM_001408495.1:c.1970delT NP_001395424.1:p.Val657Glufs frameshift NM_001408496.1:c.1952delT NP_001395425.1:p.Val651Glufs frameshift NM_001408497.1:c.1952delT NP_001395426.1:p.Val651Glufs frameshift NM_001408498.1:c.1952delT NP_001395427.1:p.Val651Glufs frameshift NM_001408499.1:c.1952delT NP_001395428.1:p.Val651Glufs frameshift NM_001408500.1:c.1952delT NP_001395429.1:p.Val651Glufs frameshift NM_001408501.1:c.1952delT NP_001395430.1:p.Val651Glufs frameshift NM_001408502.1:c.1949delT NP_001395431.1:p.Val650Glufs frameshift NM_001408503.1:c.1949delT NP_001395432.1:p.Val650Glufs frameshift NM_001408504.1:c.1949delT NP_001395433.1:p.Val650Glufs frameshift NM_001408505.1:c.1946delT NP_001395434.1:p.Val649Glufs frameshift NM_001408506.1:c.1889delT NP_001395435.1:p.Val630Glufs frameshift NM_001408507.1:c.1886delT NP_001395436.1:p.Val629Glufs frameshift NM_001408508.1:c.1877delT NP_001395437.1:p.Val626Glufs frameshift NM_001408509.1:c.1874delT NP_001395438.1:p.Val625Glufs frameshift NM_001408510.1:c.1835delT NP_001395439.1:p.Val612Glufs frameshift NM_001408511.1:c.1832delT NP_001395440.1:p.Val611Glufs frameshift NM_001408512.1:c.1712delT NP_001395441.1:p.Val571Glufs frameshift NM_001408513.1:c.1685delT NP_001395442.1:p.Val562Glufs frameshift NM_001408514.1:c.1289delT NP_001395443.1:p.Val430Glufs frameshift NM_007297.4:c.5384del NP_009228.2:p.Val1795fs frameshift NM_007298.4:c.2213delT NP_009229.2:p.Val738Glufs frameshift NM_007299.4:c.*39del 3 prime UTR NM_007300.4:c.5588del NP_009231.2:p.Val1863fs frameshift NM_007304.2:c.2213delT NP_009235.2:p.Val738Glufs frameshift NR_027676.2:n.5702del non-coding transcript variant NC_000017.11:g.43045745del NC_000017.10:g.41197762del NG_005905.2:g.172239del LRG_292:g.172239del LRG_292t1:c.5525del LRG_292p1:p.Val1842Glufs - Protein change
- V1863fs, V1795fs, V738fs, V1842fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045744:A:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 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 (1) |
criteria provided, single submitter
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Nov 1, 2022 | RCV000204265.16 | |
Pathogenic (1) |
reviewed by expert panel
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Sep 8, 2016 | RCV000241235.10 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300277.2
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
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000259749.7
First in ClinVar: Feb 02, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Val1842Glufs*13) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Val1842Glufs*13) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BRCA1 protein in which other variant(s) (p.Tyr1853*) have been determined to be pathogenic (PMID: 7894493, 10811118, 11739404, 12400015, 21922593; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 219716). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). (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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Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. | Kawai H | Oncogene | 2002 | PMID: 12400015 |
BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | Ye Q | The Journal of cell biology | 2001 | PMID: 11739404 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
Text-mined citations for rs864622220 ...
HelpRecord last updated Apr 15, 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.