ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5512del (p.Val1838fs)
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.5512del (p.Val1838fs)
Variation ID: 55610 Accession: VCV000055610.13
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045758 (GRCh38) [ NCBI UCSC ] 17: 41197775 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5512del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1838fs frameshift NM_001407571.1:c.5297delG NP_001394500.1:p.Val1767Cysfs frameshift NM_001407581.1:c.5576delG NP_001394510.1:p.Val1860Cysfs frameshift NM_001407582.1:c.5576delG NP_001394511.1:p.Val1860Cysfs frameshift NM_001407583.1:c.5573delG NP_001394512.1:p.Val1859Cysfs frameshift NM_001407585.1:c.5573delG NP_001394514.1:p.Val1859Cysfs frameshift NM_001407587.1:c.5573delG NP_001394516.1:p.Val1859Cysfs frameshift NM_001407590.1:c.5570delG NP_001394519.1:p.Val1858Cysfs frameshift NM_001407591.1:c.5570delG NP_001394520.1:p.Val1858Cysfs frameshift NM_001407593.1:c.5510delG NP_001394522.1:p.Val1838Cysfs frameshift NM_001407594.1:c.5510delG NP_001394523.1:p.Val1838Cysfs frameshift NM_001407596.1:c.5510delG NP_001394525.1:p.Val1838Cysfs frameshift NM_001407597.1:c.5510delG NP_001394526.1:p.Val1838Cysfs frameshift NM_001407598.1:c.5510delG NP_001394527.1:p.Val1838Cysfs frameshift NM_001407602.1:c.5510delG NP_001394531.1:p.Val1838Cysfs frameshift NM_001407603.1:c.5510delG NP_001394532.1:p.Val1838Cysfs frameshift NM_001407605.1:c.5510delG NP_001394534.1:p.Val1838Cysfs frameshift NM_001407610.1:c.5507delG NP_001394539.1:p.Val1837Cysfs frameshift NM_001407611.1:c.5507delG NP_001394540.1:p.Val1837Cysfs frameshift NM_001407612.1:c.5507delG NP_001394541.1:p.Val1837Cysfs frameshift NM_001407613.1:c.5507delG NP_001394542.1:p.Val1837Cysfs frameshift NM_001407614.1:c.5507delG NP_001394543.1:p.Val1837Cysfs frameshift NM_001407615.1:c.5507delG NP_001394544.1:p.Val1837Cysfs frameshift NM_001407616.1:c.5507delG NP_001394545.1:p.Val1837Cysfs frameshift NM_001407617.1:c.5507delG NP_001394546.1:p.Val1837Cysfs frameshift NM_001407618.1:c.5507delG NP_001394547.1:p.Val1837Cysfs frameshift NM_001407619.1:c.5507delG NP_001394548.1:p.Val1837Cysfs frameshift NM_001407620.1:c.5507delG NP_001394549.1:p.Val1837Cysfs frameshift NM_001407621.1:c.5507delG NP_001394550.1:p.Val1837Cysfs frameshift NM_001407622.1:c.5507delG NP_001394551.1:p.Val1837Cysfs frameshift NM_001407623.1:c.5507delG NP_001394552.1:p.Val1837Cysfs frameshift NM_001407624.1:c.5507delG NP_001394553.1:p.Val1837Cysfs frameshift NM_001407625.1:c.5507delG NP_001394554.1:p.Val1837Cysfs frameshift NM_001407626.1:c.5507delG NP_001394555.1:p.Val1837Cysfs frameshift NM_001407627.1:c.5504delG NP_001394556.1:p.Val1836Cysfs frameshift NM_001407628.1:c.5504delG NP_001394557.1:p.Val1836Cysfs frameshift NM_001407629.1:c.5504delG NP_001394558.1:p.Val1836Cysfs frameshift NM_001407630.1:c.5504delG NP_001394559.1:p.Val1836Cysfs frameshift NM_001407631.1:c.5504delG NP_001394560.1:p.Val1836Cysfs frameshift NM_001407632.1:c.5504delG NP_001394561.1:p.Val1836Cysfs frameshift NM_001407633.1:c.5504delG NP_001394562.1:p.Val1836Cysfs frameshift NM_001407634.1:c.5504delG NP_001394563.1:p.Val1836Cysfs frameshift NM_001407635.1:c.5504delG NP_001394564.1:p.Val1836Cysfs frameshift NM_001407636.1:c.5504delG NP_001394565.1:p.Val1836Cysfs frameshift NM_001407637.1:c.5504delG NP_001394566.1:p.Val1836Cysfs frameshift NM_001407638.1:c.5504delG NP_001394567.1:p.Val1836Cysfs frameshift NM_001407639.1:c.5504delG NP_001394568.1:p.Val1836Cysfs frameshift NM_001407640.1:c.5504delG NP_001394569.1:p.Val1836Cysfs frameshift NM_001407641.1:c.5504delG NP_001394570.1:p.Val1836Cysfs frameshift NM_001407642.1:c.5504delG NP_001394571.1:p.Val1836Cysfs frameshift NM_001407644.1:c.5501delG NP_001394573.1:p.Val1835Cysfs frameshift NM_001407645.1:c.5501delG NP_001394574.1:p.Val1835Cysfs frameshift NM_001407646.1:c.5498delG NP_001394575.1:p.Val1834Cysfs frameshift NM_001407647.1:c.5495delG NP_001394576.1:p.Val1833Cysfs frameshift NM_001407648.1:c.5453delG NP_001394577.1:p.Val1819Cysfs frameshift NM_001407649.1:c.5450delG NP_001394578.1:p.Val1818Cysfs frameshift NM_001407652.1:c.5432delG NP_001394581.1:p.Val1812Cysfs frameshift NM_001407653.1:c.5432delG NP_001394582.1:p.Val1812Cysfs frameshift NM_001407654.1:c.5432delG NP_001394583.1:p.Val1812Cysfs frameshift NM_001407655.1:c.5432delG NP_001394584.1:p.Val1812Cysfs frameshift NM_001407656.1:c.5429delG NP_001394585.1:p.Val1811Cysfs frameshift NM_001407657.1:c.5429delG NP_001394586.1:p.Val1811Cysfs frameshift NM_001407658.1:c.5429delG NP_001394587.1:p.Val1811Cysfs frameshift NM_001407659.1:c.5426delG NP_001394588.1:p.Val1810Cysfs frameshift NM_001407660.1:c.5426delG NP_001394589.1:p.Val1810Cysfs frameshift NM_001407661.1:c.5426delG NP_001394590.1:p.Val1810Cysfs frameshift NM_001407662.1:c.5426delG NP_001394591.1:p.Val1810Cysfs frameshift NM_001407663.1:c.5426delG NP_001394592.1:p.Val1810Cysfs frameshift NM_001407664.1:c.5387delG NP_001394593.1:p.Val1797Cysfs frameshift NM_001407665.1:c.5387delG NP_001394594.1:p.Val1797Cysfs frameshift NM_001407666.1:c.5387delG NP_001394595.1:p.Val1797Cysfs frameshift NM_001407667.1:c.5387delG NP_001394596.1:p.Val1797Cysfs frameshift NM_001407668.1:c.5387delG NP_001394597.1:p.Val1797Cysfs frameshift NM_001407669.1:c.5387delG NP_001394598.1:p.Val1797Cysfs frameshift NM_001407670.1:c.5384delG NP_001394599.1:p.Val1796Cysfs frameshift NM_001407671.1:c.5384delG NP_001394600.1:p.Val1796Cysfs frameshift NM_001407672.1:c.5384delG NP_001394601.1:p.Val1796Cysfs frameshift NM_001407673.1:c.5384delG NP_001394602.1:p.Val1796Cysfs frameshift NM_001407674.1:c.5384delG NP_001394603.1:p.Val1796Cysfs frameshift NM_001407675.1:c.5384delG NP_001394604.1:p.Val1796Cysfs frameshift NM_001407676.1:c.5384delG NP_001394605.1:p.Val1796Cysfs frameshift NM_001407677.1:c.5384delG NP_001394606.1:p.Val1796Cysfs frameshift NM_001407678.1:c.5384delG NP_001394607.1:p.Val1796Cysfs frameshift NM_001407679.1:c.5384delG NP_001394608.1:p.Val1796Cysfs frameshift NM_001407680.1:c.5384delG NP_001394609.1:p.Val1796Cysfs frameshift NM_001407681.1:c.5381delG NP_001394610.1:p.Val1795Cysfs frameshift NM_001407682.1:c.5381delG NP_001394611.1:p.Val1795Cysfs frameshift NM_001407683.1:c.5381delG NP_001394612.1:p.Val1795Cysfs frameshift NM_001407684.1:c.5381delG NP_001394613.1:p.Val1795Cysfs frameshift NM_001407685.1:c.5381delG NP_001394614.1:p.Val1795Cysfs frameshift NM_001407686.1:c.5381delG NP_001394615.1:p.Val1795Cysfs frameshift NM_001407687.1:c.5381delG NP_001394616.1:p.Val1795Cysfs frameshift NM_001407688.1:c.5381delG NP_001394617.1:p.Val1795Cysfs frameshift NM_001407689.1:c.5381delG NP_001394618.1:p.Val1795Cysfs frameshift NM_001407690.1:c.5378delG NP_001394619.1:p.Val1794Cysfs frameshift NM_001407691.1:c.5378delG NP_001394620.1:p.Val1794Cysfs frameshift NM_001407692.1:c.5369delG NP_001394621.1:p.Val1791Cysfs frameshift NM_001407694.1:c.5369delG NP_001394623.1:p.Val1791Cysfs frameshift NM_001407695.1:c.5369delG NP_001394624.1:p.Val1791Cysfs frameshift NM_001407696.1:c.5369delG NP_001394625.1:p.Val1791Cysfs frameshift NM_001407697.1:c.5369delG NP_001394626.1:p.Val1791Cysfs frameshift NM_001407698.1:c.5369delG NP_001394627.1:p.Val1791Cysfs frameshift NM_001407724.1:c.5369delG NP_001394653.1:p.Val1791Cysfs frameshift NM_001407725.1:c.5369delG NP_001394654.1:p.Val1791Cysfs frameshift NM_001407726.1:c.5369delG NP_001394655.1:p.Val1791Cysfs frameshift NM_001407727.1:c.5369delG NP_001394656.1:p.Val1791Cysfs frameshift NM_001407728.1:c.5369delG NP_001394657.1:p.Val1791Cysfs frameshift NM_001407729.1:c.5369delG NP_001394658.1:p.Val1791Cysfs frameshift NM_001407730.1:c.5369delG NP_001394659.1:p.Val1791Cysfs frameshift NM_001407731.1:c.5369delG NP_001394660.1:p.Val1791Cysfs frameshift NM_001407732.1:c.5366delG NP_001394661.1:p.Val1790Cysfs frameshift NM_001407733.1:c.5366delG NP_001394662.1:p.Val1790Cysfs frameshift NM_001407734.1:c.5366delG NP_001394663.1:p.Val1790Cysfs frameshift NM_001407735.1:c.5366delG NP_001394664.1:p.Val1790Cysfs frameshift NM_001407736.1:c.5366delG NP_001394665.1:p.Val1790Cysfs frameshift NM_001407737.1:c.5366delG NP_001394666.1:p.Val1790Cysfs frameshift NM_001407738.1:c.5366delG NP_001394667.1:p.Val1790Cysfs frameshift NM_001407739.1:c.5366delG NP_001394668.1:p.Val1790Cysfs frameshift NM_001407740.1:c.5366delG NP_001394669.1:p.Val1790Cysfs frameshift NM_001407741.1:c.5366delG NP_001394670.1:p.Val1790Cysfs frameshift NM_001407742.1:c.5366delG NP_001394671.1:p.Val1790Cysfs frameshift NM_001407743.1:c.5366delG NP_001394672.1:p.Val1790Cysfs frameshift NM_001407744.1:c.5366delG NP_001394673.1:p.Val1790Cysfs frameshift NM_001407745.1:c.5366delG NP_001394674.1:p.Val1790Cysfs frameshift NM_001407746.1:c.5366delG NP_001394675.1:p.Val1790Cysfs frameshift NM_001407747.1:c.5366delG NP_001394676.1:p.Val1790Cysfs frameshift NM_001407748.1:c.5366delG NP_001394677.1:p.Val1790Cysfs frameshift NM_001407749.1:c.5366delG NP_001394678.1:p.Val1790Cysfs frameshift NM_001407750.1:c.5366delG NP_001394679.1:p.Val1790Cysfs frameshift NM_001407751.1:c.5366delG NP_001394680.1:p.Val1790Cysfs frameshift NM_001407752.1:c.5366delG NP_001394681.1:p.Val1790Cysfs frameshift NM_001407838.1:c.5363delG NP_001394767.1:p.Val1789Cysfs frameshift NM_001407839.1:c.5363delG NP_001394768.1:p.Val1789Cysfs frameshift NM_001407841.1:c.5363delG NP_001394770.1:p.Val1789Cysfs frameshift NM_001407842.1:c.5363delG NP_001394771.1:p.Val1789Cysfs frameshift NM_001407843.1:c.5363delG NP_001394772.1:p.Val1789Cysfs frameshift NM_001407844.1:c.5363delG NP_001394773.1:p.Val1789Cysfs frameshift NM_001407845.1:c.5363delG NP_001394774.1:p.Val1789Cysfs frameshift NM_001407846.1:c.5363delG NP_001394775.1:p.Val1789Cysfs frameshift NM_001407847.1:c.5363delG NP_001394776.1:p.Val1789Cysfs frameshift NM_001407848.1:c.5363delG NP_001394777.1:p.Val1789Cysfs frameshift NM_001407849.1:c.5363delG NP_001394778.1:p.Val1789Cysfs frameshift NM_001407850.1:c.5363delG NP_001394779.1:p.Val1789Cysfs frameshift NM_001407851.1:c.5363delG NP_001394780.1:p.Val1789Cysfs frameshift NM_001407852.1:c.5363delG NP_001394781.1:p.Val1789Cysfs frameshift NM_001407853.1:c.5363delG NP_001394782.1:p.Val1789Cysfs frameshift NM_001407854.1:c.*24delG NM_001407858.1:c.*24delG NM_001407859.1:c.*24delG NM_001407860.1:c.*24delG NM_001407861.1:c.*24delG NM_001407862.1:c.5309delG NP_001394791.1:p.Val1771Cysfs frameshift NM_001407863.1:c.5306delG NP_001394792.1:p.Val1770Cysfs frameshift NM_001407874.1:c.5303delG NP_001394803.1:p.Val1769Cysfs frameshift NM_001407875.1:c.5303delG NP_001394804.1:p.Val1769Cysfs frameshift NM_001407879.1:c.5300delG NP_001394808.1:p.Val1768Cysfs frameshift NM_001407881.1:c.5300delG NP_001394810.1:p.Val1768Cysfs frameshift NM_001407882.1:c.5300delG NP_001394811.1:p.Val1768Cysfs frameshift NM_001407884.1:c.5300delG NP_001394813.1:p.Val1768Cysfs frameshift NM_001407885.1:c.5300delG NP_001394814.1:p.Val1768Cysfs frameshift NM_001407886.1:c.5300delG NP_001394815.1:p.Val1768Cysfs frameshift NM_001407887.1:c.5300delG NP_001394816.1:p.Val1768Cysfs frameshift NM_001407889.1:c.5300delG NP_001394818.1:p.Val1768Cysfs frameshift NM_001407894.1:c.5297delG NP_001394823.1:p.Val1767Cysfs frameshift NM_001407895.1:c.5297delG NP_001394824.1:p.Val1767Cysfs frameshift NM_001407896.1:c.5297delG NP_001394825.1:p.Val1767Cysfs frameshift NM_001407897.1:c.5297delG NP_001394826.1:p.Val1767Cysfs frameshift NM_001407898.1:c.5297delG NP_001394827.1:p.Val1767Cysfs frameshift NM_001407899.1:c.5297delG NP_001394828.1:p.Val1767Cysfs frameshift NM_001407900.1:c.5297delG NP_001394829.1:p.Val1767Cysfs frameshift NM_001407902.1:c.5297delG NP_001394831.1:p.Val1767Cysfs frameshift NM_001407904.1:c.5297delG NP_001394833.1:p.Val1767Cysfs frameshift NM_001407906.1:c.5297delG NP_001394835.1:p.Val1767Cysfs frameshift NM_001407907.1:c.5297delG NP_001394836.1:p.Val1767Cysfs frameshift NM_001407908.1:c.5297delG NP_001394837.1:p.Val1767Cysfs frameshift NM_001407909.1:c.5297delG NP_001394838.1:p.Val1767Cysfs frameshift NM_001407910.1:c.5297delG NP_001394839.1:p.Val1767Cysfs frameshift NM_001407915.1:c.5294delG NP_001394844.1:p.Val1766Cysfs frameshift NM_001407916.1:c.5294delG NP_001394845.1:p.Val1766Cysfs frameshift NM_001407917.1:c.5294delG NP_001394846.1:p.Val1766Cysfs frameshift NM_001407918.1:c.5294delG NP_001394847.1:p.Val1766Cysfs frameshift NM_001407919.1:c.5258delG NP_001394848.1:p.Val1754Cysfs frameshift NM_001407920.1:c.5246delG NP_001394849.1:p.Val1750Cysfs frameshift NM_001407921.1:c.5246delG NP_001394850.1:p.Val1750Cysfs frameshift NM_001407922.1:c.5246delG NP_001394851.1:p.Val1750Cysfs frameshift NM_001407923.1:c.5246delG NP_001394852.1:p.Val1750Cysfs frameshift NM_001407924.1:c.5246delG NP_001394853.1:p.Val1750Cysfs frameshift NM_001407925.1:c.5246delG NP_001394854.1:p.Val1750Cysfs frameshift NM_001407926.1:c.5246delG NP_001394855.1:p.Val1750Cysfs frameshift NM_001407927.1:c.5243delG NP_001394856.1:p.Val1749Cysfs frameshift NM_001407928.1:c.5243delG NP_001394857.1:p.Val1749Cysfs frameshift NM_001407929.1:c.5243delG NP_001394858.1:p.Val1749Cysfs frameshift NM_001407930.1:c.5243delG NP_001394859.1:p.Val1749Cysfs frameshift NM_001407931.1:c.5243delG NP_001394860.1:p.Val1749Cysfs frameshift NM_001407932.1:c.5243delG NP_001394861.1:p.Val1749Cysfs frameshift NM_001407933.1:c.5243delG NP_001394862.1:p.Val1749Cysfs frameshift NM_001407934.1:c.5240delG NP_001394863.1:p.Val1748Cysfs frameshift NM_001407935.1:c.5240delG NP_001394864.1:p.Val1748Cysfs frameshift NM_001407936.1:c.5240delG NP_001394865.1:p.Val1748Cysfs frameshift NM_001407937.1:c.*24delG NM_001407938.1:c.*24delG NM_001407939.1:c.*24delG NM_001407940.1:c.*24delG NM_001407941.1:c.*24delG NM_001407942.1:c.*24delG NM_001407943.1:c.*24delG NM_001407944.1:c.*24delG NM_001407945.1:c.*24delG NM_001407946.1:c.5177delG NP_001394875.1:p.Val1727Cysfs frameshift NM_001407947.1:c.5177delG NP_001394876.1:p.Val1727Cysfs frameshift NM_001407948.1:c.5177delG NP_001394877.1:p.Val1727Cysfs frameshift NM_001407949.1:c.5177delG NP_001394878.1:p.Val1727Cysfs frameshift NM_001407950.1:c.5174delG NP_001394879.1:p.Val1726Cysfs frameshift NM_001407951.1:c.5174delG NP_001394880.1:p.Val1726Cysfs frameshift NM_001407952.1:c.5174delG NP_001394881.1:p.Val1726Cysfs frameshift NM_001407953.1:c.5174delG NP_001394882.1:p.Val1726Cysfs frameshift NM_001407954.1:c.5174delG NP_001394883.1:p.Val1726Cysfs frameshift NM_001407955.1:c.5174delG NP_001394884.1:p.Val1726Cysfs frameshift NM_001407956.1:c.5171delG NP_001394885.1:p.Val1725Cysfs frameshift NM_001407957.1:c.5171delG NP_001394886.1:p.Val1725Cysfs frameshift NM_001407958.1:c.5171delG NP_001394887.1:p.Val1725Cysfs frameshift NM_001407959.1:c.5129delG NP_001394888.1:p.Val1711Cysfs frameshift NM_001407960.1:c.5126delG NP_001394889.1:p.Val1710Cysfs frameshift NM_001407962.1:c.5126delG NP_001394891.1:p.Val1710Cysfs frameshift NM_001407963.1:c.5123delG NP_001394892.1:p.Val1709Cysfs frameshift NM_001407964.1:c.5048delG NP_001394893.1:p.Val1684Cysfs frameshift NM_001407965.1:c.5003delG NP_001394894.1:p.Val1669Cysfs frameshift NM_001407966.1:c.4622delG NP_001394895.1:p.Val1542Cysfs frameshift NM_001407967.1:c.4619delG NP_001394896.1:p.Val1541Cysfs frameshift NM_001407968.1:c.2906delG NP_001394897.1:p.Val970Cysfs frameshift NM_001407969.1:c.2903delG NP_001394898.1:p.Val969Cysfs frameshift NM_001407970.1:c.2267delG NP_001394899.1:p.Val757Cysfs frameshift NM_001407971.1:c.2267delG NP_001394900.1:p.Val757Cysfs frameshift NM_001407972.1:c.2264delG NP_001394901.1:p.Val756Cysfs frameshift NM_001407973.1:c.2201delG NP_001394902.1:p.Val735Cysfs frameshift NM_001407974.1:c.2201delG NP_001394903.1:p.Val735Cysfs frameshift NM_001407975.1:c.2201delG NP_001394904.1:p.Val735Cysfs frameshift NM_001407976.1:c.2201delG NP_001394905.1:p.Val735Cysfs frameshift NM_001407977.1:c.2201delG NP_001394906.1:p.Val735Cysfs frameshift NM_001407978.1:c.2201delG NP_001394907.1:p.Val735Cysfs frameshift NM_001407979.1:c.2198delG NP_001394908.1:p.Val734Cysfs frameshift NM_001407980.1:c.2198delG NP_001394909.1:p.Val734Cysfs frameshift NM_001407981.1:c.2198delG NP_001394910.1:p.Val734Cysfs frameshift NM_001407982.1:c.2198delG NP_001394911.1:p.Val734Cysfs frameshift NM_001407983.1:c.2198delG NP_001394912.1:p.Val734Cysfs frameshift NM_001407984.1:c.2198delG NP_001394913.1:p.Val734Cysfs frameshift NM_001407985.1:c.2198delG NP_001394914.1:p.Val734Cysfs frameshift NM_001407986.1:c.2198delG NP_001394915.1:p.Val734Cysfs frameshift NM_001407990.1:c.2198delG NP_001394919.1:p.Val734Cysfs frameshift NM_001407991.1:c.2198delG NP_001394920.1:p.Val734Cysfs frameshift NM_001407992.1:c.2198delG NP_001394921.1:p.Val734Cysfs frameshift NM_001407993.1:c.2198delG NP_001394922.1:p.Val734Cysfs frameshift NM_001408392.1:c.2195delG NP_001395321.1:p.Val733Cysfs frameshift NM_001408396.1:c.2195delG NP_001395325.1:p.Val733Cysfs frameshift NM_001408397.1:c.2195delG NP_001395326.1:p.Val733Cysfs frameshift NM_001408398.1:c.2195delG NP_001395327.1:p.Val733Cysfs frameshift NM_001408399.1:c.2195delG NP_001395328.1:p.Val733Cysfs frameshift NM_001408400.1:c.2195delG NP_001395329.1:p.Val733Cysfs frameshift NM_001408401.1:c.2195delG NP_001395330.1:p.Val733Cysfs frameshift NM_001408402.1:c.2195delG NP_001395331.1:p.Val733Cysfs frameshift NM_001408403.1:c.2195delG NP_001395332.1:p.Val733Cysfs frameshift NM_001408404.1:c.2195delG NP_001395333.1:p.Val733Cysfs frameshift NM_001408406.1:c.2192delG NP_001395335.1:p.Val732Cysfs frameshift NM_001408407.1:c.2192delG NP_001395336.1:p.Val732Cysfs frameshift NM_001408408.1:c.2192delG NP_001395337.1:p.Val732Cysfs frameshift NM_001408409.1:c.2189delG NP_001395338.1:p.Val731Cysfs frameshift NM_001408410.1:c.2126delG NP_001395339.1:p.Val710Cysfs frameshift NM_001408411.1:c.2123delG NP_001395340.1:p.Val709Cysfs frameshift NM_001408412.1:c.2120delG NP_001395341.1:p.Val708Cysfs frameshift NM_001408413.1:c.2120delG NP_001395342.1:p.Val708Cysfs frameshift NM_001408414.1:c.2120delG NP_001395343.1:p.Val708Cysfs frameshift NM_001408415.1:c.2120delG NP_001395344.1:p.Val708Cysfs frameshift NM_001408416.1:c.2120delG NP_001395345.1:p.Val708Cysfs frameshift NM_001408418.1:c.2084delG NP_001395347.1:p.Val696Cysfs frameshift NM_001408419.1:c.2084delG NP_001395348.1:p.Val696Cysfs frameshift NM_001408420.1:c.2084delG NP_001395349.1:p.Val696Cysfs frameshift NM_001408421.1:c.2081delG NP_001395350.1:p.Val695Cysfs frameshift NM_001408422.1:c.2081delG NP_001395351.1:p.Val695Cysfs frameshift NM_001408423.1:c.2081delG NP_001395352.1:p.Val695Cysfs frameshift NM_001408424.1:c.2081delG NP_001395353.1:p.Val695Cysfs frameshift NM_001408425.1:c.2078delG NP_001395354.1:p.Val694Cysfs frameshift NM_001408426.1:c.2078delG NP_001395355.1:p.Val694Cysfs frameshift NM_001408427.1:c.2078delG NP_001395356.1:p.Val694Cysfs frameshift NM_001408428.1:c.2078delG NP_001395357.1:p.Val694Cysfs frameshift NM_001408429.1:c.2078delG NP_001395358.1:p.Val694Cysfs frameshift NM_001408430.1:c.2078delG NP_001395359.1:p.Val694Cysfs frameshift NM_001408431.1:c.2078delG NP_001395360.1:p.Val694Cysfs frameshift NM_001408432.1:c.2075delG NP_001395361.1:p.Val693Cysfs frameshift NM_001408433.1:c.2075delG NP_001395362.1:p.Val693Cysfs frameshift NM_001408434.1:c.2075delG NP_001395363.1:p.Val693Cysfs frameshift NM_001408435.1:c.2075delG NP_001395364.1:p.Val693Cysfs frameshift NM_001408436.1:c.2075delG NP_001395365.1:p.Val693Cysfs frameshift NM_001408437.1:c.2075delG NP_001395366.1:p.Val693Cysfs frameshift NM_001408438.1:c.2075delG NP_001395367.1:p.Val693Cysfs frameshift NM_001408439.1:c.2075delG NP_001395368.1:p.Val693Cysfs frameshift NM_001408440.1:c.2075delG NP_001395369.1:p.Val693Cysfs frameshift NM_001408441.1:c.2075delG NP_001395370.1:p.Val693Cysfs frameshift NM_001408442.1:c.2075delG NP_001395371.1:p.Val693Cysfs frameshift NM_001408443.1:c.2075delG NP_001395372.1:p.Val693Cysfs frameshift NM_001408444.1:c.2075delG NP_001395373.1:p.Val693Cysfs frameshift NM_001408445.1:c.2072delG NP_001395374.1:p.Val692Cysfs frameshift NM_001408446.1:c.2072delG NP_001395375.1:p.Val692Cysfs frameshift NM_001408447.1:c.2072delG NP_001395376.1:p.Val692Cysfs frameshift NM_001408448.1:c.2072delG NP_001395377.1:p.Val692Cysfs frameshift NM_001408450.1:c.2072delG NP_001395379.1:p.Val692Cysfs frameshift NM_001408451.1:c.2066delG NP_001395380.1:p.Val690Cysfs frameshift NM_001408452.1:c.2060delG NP_001395381.1:p.Val688Cysfs frameshift NM_001408453.1:c.2060delG NP_001395382.1:p.Val688Cysfs frameshift NM_001408454.1:c.2060delG NP_001395383.1:p.Val688Cysfs frameshift NM_001408455.1:c.2060delG NP_001395384.1:p.Val688Cysfs frameshift NM_001408456.1:c.2060delG NP_001395385.1:p.Val688Cysfs frameshift NM_001408457.1:c.2060delG NP_001395386.1:p.Val688Cysfs frameshift NM_001408458.1:c.2057delG NP_001395387.1:p.Val687Cysfs frameshift NM_001408459.1:c.2057delG NP_001395388.1:p.Val687Cysfs frameshift NM_001408460.1:c.2057delG NP_001395389.1:p.Val687Cysfs frameshift NM_001408461.1:c.2057delG NP_001395390.1:p.Val687Cysfs frameshift NM_001408462.1:c.2057delG NP_001395391.1:p.Val687Cysfs frameshift NM_001408463.1:c.2057delG NP_001395392.1:p.Val687Cysfs frameshift NM_001408464.1:c.2057delG NP_001395393.1:p.Val687Cysfs frameshift NM_001408465.1:c.2057delG NP_001395394.1:p.Val687Cysfs frameshift NM_001408466.1:c.2057delG NP_001395395.1:p.Val687Cysfs frameshift NM_001408467.1:c.2057delG NP_001395396.1:p.Val687Cysfs frameshift NM_001408468.1:c.2054delG NP_001395397.1:p.Val686Cysfs frameshift NM_001408469.1:c.2054delG NP_001395398.1:p.Val686Cysfs frameshift NM_001408470.1:c.2054delG NP_001395399.1:p.Val686Cysfs frameshift NM_001408472.1:c.*24delG NM_001408473.1:c.*24delG NM_001408474.1:c.2000delG NP_001395403.1:p.Val668Cysfs frameshift NM_001408475.1:c.1997delG NP_001395404.1:p.Val667Cysfs frameshift NM_001408476.1:c.1997delG NP_001395405.1:p.Val667Cysfs frameshift NM_001408478.1:c.1991delG NP_001395407.1:p.Val665Cysfs frameshift NM_001408479.1:c.1991delG NP_001395408.1:p.Val665Cysfs frameshift NM_001408480.1:c.1991delG NP_001395409.1:p.Val665Cysfs frameshift NM_001408481.1:c.1988delG NP_001395410.1:p.Val664Cysfs frameshift NM_001408482.1:c.1988delG NP_001395411.1:p.Val664Cysfs frameshift NM_001408483.1:c.1988delG NP_001395412.1:p.Val664Cysfs frameshift NM_001408484.1:c.1988delG NP_001395413.1:p.Val664Cysfs frameshift NM_001408485.1:c.1988delG NP_001395414.1:p.Val664Cysfs frameshift NM_001408489.1:c.1988delG NP_001395418.1:p.Val664Cysfs frameshift NM_001408490.1:c.1988delG NP_001395419.1:p.Val664Cysfs frameshift NM_001408491.1:c.1988delG NP_001395420.1:p.Val664Cysfs frameshift NM_001408492.1:c.1985delG NP_001395421.1:p.Val663Cysfs frameshift NM_001408493.1:c.1985delG NP_001395422.1:p.Val663Cysfs frameshift NM_001408494.1:c.1961delG NP_001395423.1:p.Val655Cysfs frameshift NM_001408495.1:c.1955delG NP_001395424.1:p.Val653Cysfs frameshift NM_001408496.1:c.1937delG NP_001395425.1:p.Val647Cysfs frameshift NM_001408497.1:c.1937delG NP_001395426.1:p.Val647Cysfs frameshift NM_001408498.1:c.1937delG NP_001395427.1:p.Val647Cysfs frameshift NM_001408499.1:c.1937delG NP_001395428.1:p.Val647Cysfs frameshift NM_001408500.1:c.1937delG NP_001395429.1:p.Val647Cysfs frameshift NM_001408501.1:c.1937delG NP_001395430.1:p.Val647Cysfs frameshift NM_001408502.1:c.1934delG NP_001395431.1:p.Val646Cysfs frameshift NM_001408503.1:c.1934delG NP_001395432.1:p.Val646Cysfs frameshift NM_001408504.1:c.1934delG NP_001395433.1:p.Val646Cysfs frameshift NM_001408505.1:c.1931delG NP_001395434.1:p.Val645Cysfs frameshift NM_001408506.1:c.1874delG NP_001395435.1:p.Val626Cysfs frameshift NM_001408507.1:c.1871delG NP_001395436.1:p.Val625Cysfs frameshift NM_001408508.1:c.1862delG NP_001395437.1:p.Val622Cysfs frameshift NM_001408509.1:c.1859delG NP_001395438.1:p.Val621Cysfs frameshift NM_001408510.1:c.1820delG NP_001395439.1:p.Val608Cysfs frameshift NM_001408511.1:c.1817delG NP_001395440.1:p.Val607Cysfs frameshift NM_001408512.1:c.1697delG NP_001395441.1:p.Val567Cysfs frameshift NM_001408513.1:c.1670delG NP_001395442.1:p.Val558Cysfs frameshift NM_001408514.1:c.1274delG NP_001395443.1:p.Val426Cysfs frameshift NM_007294.3:c.5512delG frameshift NM_007297.4:c.5371del NP_009228.2:p.Val1791fs frameshift NM_007298.4:c.2198delG NP_009229.2:p.Val734Cysfs frameshift NM_007299.4:c.*26del 3 prime UTR NM_007300.4:c.5575del NP_009231.2:p.Val1859fs frameshift NM_007304.2:c.2198delG NP_009235.2:p.Val734Cysfs frameshift NR_027676.2:n.5689del non-coding transcript variant NC_000017.11:g.43045760del NC_000017.10:g.41197777del NG_005905.2:g.172226del LRG_292:g.172226del LRG_292t1:c.5510del LRG_292p1:p.Val1838Cysfs U14680.1:n.5629delG - Protein change
- V1859fs, V1838fs, V1791fs, V734fs
- Other names
- 5629delG
- Canonical SPDI
- NC_000017.11:43045757:CCC:CC
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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 |
12880 | 14665 |
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 (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000112690.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 1, 2018 | RCV001380438.14 | |
Pathogenic (1) |
criteria provided, single submitter
|
Feb 19, 2018 | RCV002345357.9 |
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
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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: SCV000300275.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Sep 01, 2018)
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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: SCV001578517.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Val1838Cysfs*5). While this is not anticipated to result in nonsense mediated … (more)
This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Val1838Cysfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals and families with breast and/or ovarian cancer (PMID: 7493024). This variant is also known as 5629delG in the literature. ClinVar contains an entry for this variant (Variation ID: 55610). This truncation is expected to partially remove the C-terminal BRCT domain of the BRCA1 protein, which is important for DNA repair activity (PMID: 14576433, 15133503). A different deleterious variant, p.Tyr1853*, located downstream of this variant has been shown to disrupt BRCA1 protein function (PMID: 8942979, 20681793, 10811118, 11256609, 17308087) and determined to be pathogenic, suggesting that although this particular variant may not result in nonsense mediated decay, it is expected to affect BRCA1 protein function. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 19, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002651098.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5512delG variant, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5512, causing a … (more)
The c.5512delG variant, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5512, causing a translational frameshift with a predicted alternate stop codon (p.Val1838Cysfs*5). This alteration was detected in one family with multiple cases of breast and ovarian cancer (Gayther SA et al. Nat. Genet., 1995 Dec;11:428-33). Of note, this alteration is also designated as c.5629delG in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Sep 05, 1997)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145559.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Number of individuals with the variant: 1
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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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Impact of RING and BRCT domain mutations on BRCA1 protein stability, localization and recruitment to DNA damage. | Nelson AC | Radiation research | 2010 | PMID: 20681793 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | Carvalho MA | Cancer research | 2007 | PMID: 17308087 |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
The BRCT domain is a phospho-protein binding domain. | Yu X | Science (New York, N.Y.) | 2003 | PMID: 14576433 |
BRCA1 can stimulate gene transcription by a unique mechanism. | Nadeau G | EMBO reports | 2000 | PMID: 11256609 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Evidence for a transcriptional activation function of BRCA1 C-terminal region. | Monteiro AN | Proceedings of the National Academy of Sciences of the United States of America | 1996 | PMID: 8942979 |
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. | Gayther SA | Nature genetics | 1995 | PMID: 7493024 |
Text-mined citations for rs80357839 ...
HelpRecord last updated May 12, 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.