ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
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.5510G>A (p.Trp1837Ter)
Variation ID: 55608 Accession: VCV000055608.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045760 (GRCh38) [ NCBI UCSC ] 17: 41197777 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Feb 14, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5510G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Trp1837Ter nonsense NM_001407571.1:c.5297G>A NP_001394500.1:p.Trp1766Ter nonsense NM_001407581.1:c.5576G>A NP_001394510.1:p.Trp1859Ter nonsense NM_001407582.1:c.5576G>A NP_001394511.1:p.Trp1859Ter nonsense NM_001407583.1:c.5573G>A NP_001394512.1:p.Trp1858Ter nonsense NM_001407585.1:c.5573G>A NP_001394514.1:p.Trp1858Ter nonsense NM_001407587.1:c.5573G>A NP_001394516.1:p.Trp1858Ter nonsense NM_001407590.1:c.5570G>A NP_001394519.1:p.Trp1857Ter nonsense NM_001407591.1:c.5570G>A NP_001394520.1:p.Trp1857Ter nonsense NM_001407593.1:c.5510G>A NP_001394522.1:p.Trp1837Ter nonsense NM_001407594.1:c.5510G>A NP_001394523.1:p.Trp1837Ter nonsense NM_001407596.1:c.5510G>A NP_001394525.1:p.Trp1837Ter nonsense NM_001407597.1:c.5510G>A NP_001394526.1:p.Trp1837Ter nonsense NM_001407598.1:c.5510G>A NP_001394527.1:p.Trp1837Ter nonsense NM_001407602.1:c.5510G>A NP_001394531.1:p.Trp1837Ter nonsense NM_001407603.1:c.5510G>A NP_001394532.1:p.Trp1837Ter nonsense NM_001407605.1:c.5510G>A NP_001394534.1:p.Trp1837Ter nonsense NM_001407610.1:c.5507G>A NP_001394539.1:p.Trp1836Ter nonsense NM_001407611.1:c.5507G>A NP_001394540.1:p.Trp1836Ter nonsense NM_001407612.1:c.5507G>A NP_001394541.1:p.Trp1836Ter nonsense NM_001407613.1:c.5507G>A NP_001394542.1:p.Trp1836Ter nonsense NM_001407614.1:c.5507G>A NP_001394543.1:p.Trp1836Ter nonsense NM_001407615.1:c.5507G>A NP_001394544.1:p.Trp1836Ter nonsense NM_001407616.1:c.5507G>A NP_001394545.1:p.Trp1836Ter nonsense NM_001407617.1:c.5507G>A NP_001394546.1:p.Trp1836Ter nonsense NM_001407618.1:c.5507G>A NP_001394547.1:p.Trp1836Ter nonsense NM_001407619.1:c.5507G>A NP_001394548.1:p.Trp1836Ter nonsense NM_001407620.1:c.5507G>A NP_001394549.1:p.Trp1836Ter nonsense NM_001407621.1:c.5507G>A NP_001394550.1:p.Trp1836Ter nonsense NM_001407622.1:c.5507G>A NP_001394551.1:p.Trp1836Ter nonsense NM_001407623.1:c.5507G>A NP_001394552.1:p.Trp1836Ter nonsense NM_001407624.1:c.5507G>A NP_001394553.1:p.Trp1836Ter nonsense NM_001407625.1:c.5507G>A NP_001394554.1:p.Trp1836Ter nonsense NM_001407626.1:c.5507G>A NP_001394555.1:p.Trp1836Ter nonsense NM_001407627.1:c.5504G>A NP_001394556.1:p.Trp1835Ter nonsense NM_001407628.1:c.5504G>A NP_001394557.1:p.Trp1835Ter nonsense NM_001407629.1:c.5504G>A NP_001394558.1:p.Trp1835Ter nonsense NM_001407630.1:c.5504G>A NP_001394559.1:p.Trp1835Ter nonsense NM_001407631.1:c.5504G>A NP_001394560.1:p.Trp1835Ter nonsense NM_001407632.1:c.5504G>A NP_001394561.1:p.Trp1835Ter nonsense NM_001407633.1:c.5504G>A NP_001394562.1:p.Trp1835Ter nonsense NM_001407634.1:c.5504G>A NP_001394563.1:p.Trp1835Ter nonsense NM_001407635.1:c.5504G>A NP_001394564.1:p.Trp1835Ter nonsense NM_001407636.1:c.5504G>A NP_001394565.1:p.Trp1835Ter nonsense NM_001407637.1:c.5504G>A NP_001394566.1:p.Trp1835Ter nonsense NM_001407638.1:c.5504G>A NP_001394567.1:p.Trp1835Ter nonsense NM_001407639.1:c.5504G>A NP_001394568.1:p.Trp1835Ter nonsense NM_001407640.1:c.5504G>A NP_001394569.1:p.Trp1835Ter nonsense NM_001407641.1:c.5504G>A NP_001394570.1:p.Trp1835Ter nonsense NM_001407642.1:c.5504G>A NP_001394571.1:p.Trp1835Ter nonsense NM_001407644.1:c.5501G>A NP_001394573.1:p.Trp1834Ter nonsense NM_001407645.1:c.5501G>A NP_001394574.1:p.Trp1834Ter nonsense NM_001407646.1:c.5498G>A NP_001394575.1:p.Trp1833Ter nonsense NM_001407647.1:c.5495G>A NP_001394576.1:p.Trp1832Ter nonsense NM_001407648.1:c.5453G>A NP_001394577.1:p.Trp1818Ter nonsense NM_001407649.1:c.5450G>A NP_001394578.1:p.Trp1817Ter nonsense NM_001407652.1:c.5432G>A NP_001394581.1:p.Trp1811Ter nonsense NM_001407653.1:c.5432G>A NP_001394582.1:p.Trp1811Ter nonsense NM_001407654.1:c.5432G>A NP_001394583.1:p.Trp1811Ter nonsense NM_001407655.1:c.5432G>A NP_001394584.1:p.Trp1811Ter nonsense NM_001407656.1:c.5429G>A NP_001394585.1:p.Trp1810Ter nonsense NM_001407657.1:c.5429G>A NP_001394586.1:p.Trp1810Ter nonsense NM_001407658.1:c.5429G>A NP_001394587.1:p.Trp1810Ter nonsense NM_001407659.1:c.5426G>A NP_001394588.1:p.Trp1809Ter nonsense NM_001407660.1:c.5426G>A NP_001394589.1:p.Trp1809Ter nonsense NM_001407661.1:c.5426G>A NP_001394590.1:p.Trp1809Ter nonsense NM_001407662.1:c.5426G>A NP_001394591.1:p.Trp1809Ter nonsense NM_001407663.1:c.5426G>A NP_001394592.1:p.Trp1809Ter nonsense NM_001407664.1:c.5387G>A NP_001394593.1:p.Trp1796Ter nonsense NM_001407665.1:c.5387G>A NP_001394594.1:p.Trp1796Ter nonsense NM_001407666.1:c.5387G>A NP_001394595.1:p.Trp1796Ter nonsense NM_001407667.1:c.5387G>A NP_001394596.1:p.Trp1796Ter nonsense NM_001407668.1:c.5387G>A NP_001394597.1:p.Trp1796Ter nonsense NM_001407669.1:c.5387G>A NP_001394598.1:p.Trp1796Ter nonsense NM_001407670.1:c.5384G>A NP_001394599.1:p.Trp1795Ter nonsense NM_001407671.1:c.5384G>A NP_001394600.1:p.Trp1795Ter nonsense NM_001407672.1:c.5384G>A NP_001394601.1:p.Trp1795Ter nonsense NM_001407673.1:c.5384G>A NP_001394602.1:p.Trp1795Ter nonsense NM_001407674.1:c.5384G>A NP_001394603.1:p.Trp1795Ter nonsense NM_001407675.1:c.5384G>A NP_001394604.1:p.Trp1795Ter nonsense NM_001407676.1:c.5384G>A NP_001394605.1:p.Trp1795Ter nonsense NM_001407677.1:c.5384G>A NP_001394606.1:p.Trp1795Ter nonsense NM_001407678.1:c.5384G>A NP_001394607.1:p.Trp1795Ter nonsense NM_001407679.1:c.5384G>A NP_001394608.1:p.Trp1795Ter nonsense NM_001407680.1:c.5384G>A NP_001394609.1:p.Trp1795Ter nonsense NM_001407681.1:c.5381G>A NP_001394610.1:p.Trp1794Ter nonsense NM_001407682.1:c.5381G>A NP_001394611.1:p.Trp1794Ter nonsense NM_001407683.1:c.5381G>A NP_001394612.1:p.Trp1794Ter nonsense NM_001407684.1:c.5381G>A NP_001394613.1:p.Trp1794Ter nonsense NM_001407685.1:c.5381G>A NP_001394614.1:p.Trp1794Ter nonsense NM_001407686.1:c.5381G>A NP_001394615.1:p.Trp1794Ter nonsense NM_001407687.1:c.5381G>A NP_001394616.1:p.Trp1794Ter nonsense NM_001407688.1:c.5381G>A NP_001394617.1:p.Trp1794Ter nonsense NM_001407689.1:c.5381G>A NP_001394618.1:p.Trp1794Ter nonsense NM_001407690.1:c.5378G>A NP_001394619.1:p.Trp1793Ter nonsense NM_001407691.1:c.5378G>A NP_001394620.1:p.Trp1793Ter nonsense NM_001407692.1:c.5369G>A NP_001394621.1:p.Trp1790Ter nonsense NM_001407694.1:c.5369G>A NP_001394623.1:p.Trp1790Ter nonsense NM_001407695.1:c.5369G>A NP_001394624.1:p.Trp1790Ter nonsense NM_001407696.1:c.5369G>A NP_001394625.1:p.Trp1790Ter nonsense NM_001407697.1:c.5369G>A NP_001394626.1:p.Trp1790Ter nonsense NM_001407698.1:c.5369G>A NP_001394627.1:p.Trp1790Ter nonsense NM_001407724.1:c.5369G>A NP_001394653.1:p.Trp1790Ter nonsense NM_001407725.1:c.5369G>A NP_001394654.1:p.Trp1790Ter nonsense NM_001407726.1:c.5369G>A NP_001394655.1:p.Trp1790Ter nonsense NM_001407727.1:c.5369G>A NP_001394656.1:p.Trp1790Ter nonsense NM_001407728.1:c.5369G>A NP_001394657.1:p.Trp1790Ter nonsense NM_001407729.1:c.5369G>A NP_001394658.1:p.Trp1790Ter nonsense NM_001407730.1:c.5369G>A NP_001394659.1:p.Trp1790Ter nonsense NM_001407731.1:c.5369G>A NP_001394660.1:p.Trp1790Ter nonsense NM_001407732.1:c.5366G>A NP_001394661.1:p.Trp1789Ter nonsense NM_001407733.1:c.5366G>A NP_001394662.1:p.Trp1789Ter nonsense NM_001407734.1:c.5366G>A NP_001394663.1:p.Trp1789Ter nonsense NM_001407735.1:c.5366G>A NP_001394664.1:p.Trp1789Ter nonsense NM_001407736.1:c.5366G>A NP_001394665.1:p.Trp1789Ter nonsense NM_001407737.1:c.5366G>A NP_001394666.1:p.Trp1789Ter nonsense NM_001407738.1:c.5366G>A NP_001394667.1:p.Trp1789Ter nonsense NM_001407739.1:c.5366G>A NP_001394668.1:p.Trp1789Ter nonsense NM_001407740.1:c.5366G>A NP_001394669.1:p.Trp1789Ter nonsense NM_001407741.1:c.5366G>A NP_001394670.1:p.Trp1789Ter nonsense NM_001407742.1:c.5366G>A NP_001394671.1:p.Trp1789Ter nonsense NM_001407743.1:c.5366G>A NP_001394672.1:p.Trp1789Ter nonsense NM_001407744.1:c.5366G>A NP_001394673.1:p.Trp1789Ter nonsense NM_001407745.1:c.5366G>A NP_001394674.1:p.Trp1789Ter nonsense NM_001407746.1:c.5366G>A NP_001394675.1:p.Trp1789Ter nonsense NM_001407747.1:c.5366G>A NP_001394676.1:p.Trp1789Ter nonsense NM_001407748.1:c.5366G>A NP_001394677.1:p.Trp1789Ter nonsense NM_001407749.1:c.5366G>A NP_001394678.1:p.Trp1789Ter nonsense NM_001407750.1:c.5366G>A NP_001394679.1:p.Trp1789Ter nonsense NM_001407751.1:c.5366G>A NP_001394680.1:p.Trp1789Ter nonsense NM_001407752.1:c.5366G>A NP_001394681.1:p.Trp1789Ter nonsense NM_001407838.1:c.5363G>A NP_001394767.1:p.Trp1788Ter nonsense NM_001407839.1:c.5363G>A NP_001394768.1:p.Trp1788Ter nonsense NM_001407841.1:c.5363G>A NP_001394770.1:p.Trp1788Ter nonsense NM_001407842.1:c.5363G>A NP_001394771.1:p.Trp1788Ter nonsense NM_001407843.1:c.5363G>A NP_001394772.1:p.Trp1788Ter nonsense NM_001407844.1:c.5363G>A NP_001394773.1:p.Trp1788Ter nonsense NM_001407845.1:c.5363G>A NP_001394774.1:p.Trp1788Ter nonsense NM_001407846.1:c.5363G>A NP_001394775.1:p.Trp1788Ter nonsense NM_001407847.1:c.5363G>A NP_001394776.1:p.Trp1788Ter nonsense NM_001407848.1:c.5363G>A NP_001394777.1:p.Trp1788Ter nonsense NM_001407849.1:c.5363G>A NP_001394778.1:p.Trp1788Ter nonsense NM_001407850.1:c.5363G>A NP_001394779.1:p.Trp1788Ter nonsense NM_001407851.1:c.5363G>A NP_001394780.1:p.Trp1788Ter nonsense NM_001407852.1:c.5363G>A NP_001394781.1:p.Trp1788Ter nonsense NM_001407853.1:c.5363G>A NP_001394782.1:p.Trp1788Ter nonsense NM_001407854.1:c.*24G>A NM_001407858.1:c.*24G>A NM_001407859.1:c.*24G>A NM_001407860.1:c.*24G>A NM_001407861.1:c.*24G>A NM_001407862.1:c.5309G>A NP_001394791.1:p.Trp1770Ter nonsense NM_001407863.1:c.5306G>A NP_001394792.1:p.Trp1769Ter nonsense NM_001407874.1:c.5303G>A NP_001394803.1:p.Trp1768Ter nonsense NM_001407875.1:c.5303G>A NP_001394804.1:p.Trp1768Ter nonsense NM_001407879.1:c.5300G>A NP_001394808.1:p.Trp1767Ter nonsense NM_001407881.1:c.5300G>A NP_001394810.1:p.Trp1767Ter nonsense NM_001407882.1:c.5300G>A NP_001394811.1:p.Trp1767Ter nonsense NM_001407884.1:c.5300G>A NP_001394813.1:p.Trp1767Ter nonsense NM_001407885.1:c.5300G>A NP_001394814.1:p.Trp1767Ter nonsense NM_001407886.1:c.5300G>A NP_001394815.1:p.Trp1767Ter nonsense NM_001407887.1:c.5300G>A NP_001394816.1:p.Trp1767Ter nonsense NM_001407889.1:c.5300G>A NP_001394818.1:p.Trp1767Ter nonsense NM_001407894.1:c.5297G>A NP_001394823.1:p.Trp1766Ter nonsense NM_001407895.1:c.5297G>A NP_001394824.1:p.Trp1766Ter nonsense NM_001407896.1:c.5297G>A NP_001394825.1:p.Trp1766Ter nonsense NM_001407897.1:c.5297G>A NP_001394826.1:p.Trp1766Ter nonsense NM_001407898.1:c.5297G>A NP_001394827.1:p.Trp1766Ter nonsense NM_001407899.1:c.5297G>A NP_001394828.1:p.Trp1766Ter nonsense NM_001407900.1:c.5297G>A NP_001394829.1:p.Trp1766Ter nonsense NM_001407902.1:c.5297G>A NP_001394831.1:p.Trp1766Ter nonsense NM_001407904.1:c.5297G>A NP_001394833.1:p.Trp1766Ter nonsense NM_001407906.1:c.5297G>A NP_001394835.1:p.Trp1766Ter nonsense NM_001407907.1:c.5297G>A NP_001394836.1:p.Trp1766Ter nonsense NM_001407908.1:c.5297G>A NP_001394837.1:p.Trp1766Ter nonsense NM_001407909.1:c.5297G>A NP_001394838.1:p.Trp1766Ter nonsense NM_001407910.1:c.5297G>A NP_001394839.1:p.Trp1766Ter nonsense NM_001407915.1:c.5294G>A NP_001394844.1:p.Trp1765Ter nonsense NM_001407916.1:c.5294G>A NP_001394845.1:p.Trp1765Ter nonsense NM_001407917.1:c.5294G>A NP_001394846.1:p.Trp1765Ter nonsense NM_001407918.1:c.5294G>A NP_001394847.1:p.Trp1765Ter nonsense NM_001407919.1:c.5258G>A NP_001394848.1:p.Trp1753Ter nonsense NM_001407920.1:c.5246G>A NP_001394849.1:p.Trp1749Ter nonsense NM_001407921.1:c.5246G>A NP_001394850.1:p.Trp1749Ter nonsense NM_001407922.1:c.5246G>A NP_001394851.1:p.Trp1749Ter nonsense NM_001407923.1:c.5246G>A NP_001394852.1:p.Trp1749Ter nonsense NM_001407924.1:c.5246G>A NP_001394853.1:p.Trp1749Ter nonsense NM_001407925.1:c.5246G>A NP_001394854.1:p.Trp1749Ter nonsense NM_001407926.1:c.5246G>A NP_001394855.1:p.Trp1749Ter nonsense NM_001407927.1:c.5243G>A NP_001394856.1:p.Trp1748Ter nonsense NM_001407928.1:c.5243G>A NP_001394857.1:p.Trp1748Ter nonsense NM_001407929.1:c.5243G>A NP_001394858.1:p.Trp1748Ter nonsense NM_001407930.1:c.5243G>A NP_001394859.1:p.Trp1748Ter nonsense NM_001407931.1:c.5243G>A NP_001394860.1:p.Trp1748Ter nonsense NM_001407932.1:c.5243G>A NP_001394861.1:p.Trp1748Ter nonsense NM_001407933.1:c.5243G>A NP_001394862.1:p.Trp1748Ter nonsense NM_001407934.1:c.5240G>A NP_001394863.1:p.Trp1747Ter nonsense NM_001407935.1:c.5240G>A NP_001394864.1:p.Trp1747Ter nonsense NM_001407936.1:c.5240G>A NP_001394865.1:p.Trp1747Ter nonsense NM_001407937.1:c.*24G>A NM_001407938.1:c.*24G>A NM_001407939.1:c.*24G>A NM_001407940.1:c.*24G>A NM_001407941.1:c.*24G>A NM_001407942.1:c.*24G>A NM_001407943.1:c.*24G>A NM_001407944.1:c.*24G>A NM_001407945.1:c.*24G>A NM_001407946.1:c.5177G>A NP_001394875.1:p.Trp1726Ter nonsense NM_001407947.1:c.5177G>A NP_001394876.1:p.Trp1726Ter nonsense NM_001407948.1:c.5177G>A NP_001394877.1:p.Trp1726Ter nonsense NM_001407949.1:c.5177G>A NP_001394878.1:p.Trp1726Ter nonsense NM_001407950.1:c.5174G>A NP_001394879.1:p.Trp1725Ter nonsense NM_001407951.1:c.5174G>A NP_001394880.1:p.Trp1725Ter nonsense NM_001407952.1:c.5174G>A NP_001394881.1:p.Trp1725Ter nonsense NM_001407953.1:c.5174G>A NP_001394882.1:p.Trp1725Ter nonsense NM_001407954.1:c.5174G>A NP_001394883.1:p.Trp1725Ter nonsense NM_001407955.1:c.5174G>A NP_001394884.1:p.Trp1725Ter nonsense NM_001407956.1:c.5171G>A NP_001394885.1:p.Trp1724Ter nonsense NM_001407957.1:c.5171G>A NP_001394886.1:p.Trp1724Ter nonsense NM_001407958.1:c.5171G>A NP_001394887.1:p.Trp1724Ter nonsense NM_001407959.1:c.5129G>A NP_001394888.1:p.Trp1710Ter nonsense NM_001407960.1:c.5126G>A NP_001394889.1:p.Trp1709Ter nonsense NM_001407962.1:c.5126G>A NP_001394891.1:p.Trp1709Ter nonsense NM_001407963.1:c.5123G>A NP_001394892.1:p.Trp1708Ter nonsense NM_001407964.1:c.5048G>A NP_001394893.1:p.Trp1683Ter nonsense NM_001407965.1:c.5003G>A NP_001394894.1:p.Trp1668Ter nonsense NM_001407966.1:c.4622G>A NP_001394895.1:p.Trp1541Ter nonsense NM_001407967.1:c.4619G>A NP_001394896.1:p.Trp1540Ter nonsense NM_001407968.1:c.2906G>A NP_001394897.1:p.Trp969Ter nonsense NM_001407969.1:c.2903G>A NP_001394898.1:p.Trp968Ter nonsense NM_001407970.1:c.2267G>A NP_001394899.1:p.Trp756Ter nonsense NM_001407971.1:c.2267G>A NP_001394900.1:p.Trp756Ter nonsense NM_001407972.1:c.2264G>A NP_001394901.1:p.Trp755Ter nonsense NM_001407973.1:c.2201G>A NP_001394902.1:p.Trp734Ter nonsense NM_001407974.1:c.2201G>A NP_001394903.1:p.Trp734Ter nonsense NM_001407975.1:c.2201G>A NP_001394904.1:p.Trp734Ter nonsense NM_001407976.1:c.2201G>A NP_001394905.1:p.Trp734Ter nonsense NM_001407977.1:c.2201G>A NP_001394906.1:p.Trp734Ter nonsense NM_001407978.1:c.2201G>A NP_001394907.1:p.Trp734Ter nonsense NM_001407979.1:c.2198G>A NP_001394908.1:p.Trp733Ter nonsense NM_001407980.1:c.2198G>A NP_001394909.1:p.Trp733Ter nonsense NM_001407981.1:c.2198G>A NP_001394910.1:p.Trp733Ter nonsense NM_001407982.1:c.2198G>A NP_001394911.1:p.Trp733Ter nonsense NM_001407983.1:c.2198G>A NP_001394912.1:p.Trp733Ter nonsense NM_001407984.1:c.2198G>A NP_001394913.1:p.Trp733Ter nonsense NM_001407985.1:c.2198G>A NP_001394914.1:p.Trp733Ter nonsense NM_001407986.1:c.2198G>A NP_001394915.1:p.Trp733Ter nonsense NM_001407990.1:c.2198G>A NP_001394919.1:p.Trp733Ter nonsense NM_001407991.1:c.2198G>A NP_001394920.1:p.Trp733Ter nonsense NM_001407992.1:c.2198G>A NP_001394921.1:p.Trp733Ter nonsense NM_001407993.1:c.2198G>A NP_001394922.1:p.Trp733Ter nonsense NM_001408392.1:c.2195G>A NP_001395321.1:p.Trp732Ter nonsense NM_001408396.1:c.2195G>A NP_001395325.1:p.Trp732Ter nonsense NM_001408397.1:c.2195G>A NP_001395326.1:p.Trp732Ter nonsense NM_001408398.1:c.2195G>A NP_001395327.1:p.Trp732Ter nonsense NM_001408399.1:c.2195G>A NP_001395328.1:p.Trp732Ter nonsense NM_001408400.1:c.2195G>A NP_001395329.1:p.Trp732Ter nonsense NM_001408401.1:c.2195G>A NP_001395330.1:p.Trp732Ter nonsense NM_001408402.1:c.2195G>A NP_001395331.1:p.Trp732Ter nonsense NM_001408403.1:c.2195G>A NP_001395332.1:p.Trp732Ter nonsense NM_001408404.1:c.2195G>A NP_001395333.1:p.Trp732Ter nonsense NM_001408406.1:c.2192G>A NP_001395335.1:p.Trp731Ter nonsense NM_001408407.1:c.2192G>A NP_001395336.1:p.Trp731Ter nonsense NM_001408408.1:c.2192G>A NP_001395337.1:p.Trp731Ter nonsense NM_001408409.1:c.2189G>A NP_001395338.1:p.Trp730Ter nonsense NM_001408410.1:c.2126G>A NP_001395339.1:p.Trp709Ter nonsense NM_001408411.1:c.2123G>A NP_001395340.1:p.Trp708Ter nonsense NM_001408412.1:c.2120G>A NP_001395341.1:p.Trp707Ter nonsense NM_001408413.1:c.2120G>A NP_001395342.1:p.Trp707Ter nonsense NM_001408414.1:c.2120G>A NP_001395343.1:p.Trp707Ter nonsense NM_001408415.1:c.2120G>A NP_001395344.1:p.Trp707Ter nonsense NM_001408416.1:c.2120G>A NP_001395345.1:p.Trp707Ter nonsense NM_001408418.1:c.2084G>A NP_001395347.1:p.Trp695Ter nonsense NM_001408419.1:c.2084G>A NP_001395348.1:p.Trp695Ter nonsense NM_001408420.1:c.2084G>A NP_001395349.1:p.Trp695Ter nonsense NM_001408421.1:c.2081G>A NP_001395350.1:p.Trp694Ter nonsense NM_001408422.1:c.2081G>A NP_001395351.1:p.Trp694Ter nonsense NM_001408423.1:c.2081G>A NP_001395352.1:p.Trp694Ter nonsense NM_001408424.1:c.2081G>A NP_001395353.1:p.Trp694Ter nonsense NM_001408425.1:c.2078G>A NP_001395354.1:p.Trp693Ter nonsense NM_001408426.1:c.2078G>A NP_001395355.1:p.Trp693Ter nonsense NM_001408427.1:c.2078G>A NP_001395356.1:p.Trp693Ter nonsense NM_001408428.1:c.2078G>A NP_001395357.1:p.Trp693Ter nonsense NM_001408429.1:c.2078G>A NP_001395358.1:p.Trp693Ter nonsense NM_001408430.1:c.2078G>A NP_001395359.1:p.Trp693Ter nonsense NM_001408431.1:c.2078G>A NP_001395360.1:p.Trp693Ter nonsense NM_001408432.1:c.2075G>A NP_001395361.1:p.Trp692Ter nonsense NM_001408433.1:c.2075G>A NP_001395362.1:p.Trp692Ter nonsense NM_001408434.1:c.2075G>A NP_001395363.1:p.Trp692Ter nonsense NM_001408435.1:c.2075G>A NP_001395364.1:p.Trp692Ter nonsense NM_001408436.1:c.2075G>A NP_001395365.1:p.Trp692Ter nonsense NM_001408437.1:c.2075G>A NP_001395366.1:p.Trp692Ter nonsense NM_001408438.1:c.2075G>A NP_001395367.1:p.Trp692Ter nonsense NM_001408439.1:c.2075G>A NP_001395368.1:p.Trp692Ter nonsense NM_001408440.1:c.2075G>A NP_001395369.1:p.Trp692Ter nonsense NM_001408441.1:c.2075G>A NP_001395370.1:p.Trp692Ter nonsense NM_001408442.1:c.2075G>A NP_001395371.1:p.Trp692Ter nonsense NM_001408443.1:c.2075G>A NP_001395372.1:p.Trp692Ter nonsense NM_001408444.1:c.2075G>A NP_001395373.1:p.Trp692Ter nonsense NM_001408445.1:c.2072G>A NP_001395374.1:p.Trp691Ter nonsense NM_001408446.1:c.2072G>A NP_001395375.1:p.Trp691Ter nonsense NM_001408447.1:c.2072G>A NP_001395376.1:p.Trp691Ter nonsense NM_001408448.1:c.2072G>A NP_001395377.1:p.Trp691Ter nonsense NM_001408450.1:c.2072G>A NP_001395379.1:p.Trp691Ter nonsense NM_001408451.1:c.2066G>A NP_001395380.1:p.Trp689Ter nonsense NM_001408452.1:c.2060G>A NP_001395381.1:p.Trp687Ter nonsense NM_001408453.1:c.2060G>A NP_001395382.1:p.Trp687Ter nonsense NM_001408454.1:c.2060G>A NP_001395383.1:p.Trp687Ter nonsense NM_001408455.1:c.2060G>A NP_001395384.1:p.Trp687Ter nonsense NM_001408456.1:c.2060G>A NP_001395385.1:p.Trp687Ter nonsense NM_001408457.1:c.2060G>A NP_001395386.1:p.Trp687Ter nonsense NM_001408458.1:c.2057G>A NP_001395387.1:p.Trp686Ter nonsense NM_001408459.1:c.2057G>A NP_001395388.1:p.Trp686Ter nonsense NM_001408460.1:c.2057G>A NP_001395389.1:p.Trp686Ter nonsense NM_001408461.1:c.2057G>A NP_001395390.1:p.Trp686Ter nonsense NM_001408462.1:c.2057G>A NP_001395391.1:p.Trp686Ter nonsense NM_001408463.1:c.2057G>A NP_001395392.1:p.Trp686Ter nonsense NM_001408464.1:c.2057G>A NP_001395393.1:p.Trp686Ter nonsense NM_001408465.1:c.2057G>A NP_001395394.1:p.Trp686Ter nonsense NM_001408466.1:c.2057G>A NP_001395395.1:p.Trp686Ter nonsense NM_001408467.1:c.2057G>A NP_001395396.1:p.Trp686Ter nonsense NM_001408468.1:c.2054G>A NP_001395397.1:p.Trp685Ter nonsense NM_001408469.1:c.2054G>A NP_001395398.1:p.Trp685Ter nonsense NM_001408470.1:c.2054G>A NP_001395399.1:p.Trp685Ter nonsense NM_001408472.1:c.*24G>A NM_001408473.1:c.*24G>A NM_001408474.1:c.2000G>A NP_001395403.1:p.Trp667Ter nonsense NM_001408475.1:c.1997G>A NP_001395404.1:p.Trp666Ter nonsense NM_001408476.1:c.1997G>A NP_001395405.1:p.Trp666Ter nonsense NM_001408478.1:c.1991G>A NP_001395407.1:p.Trp664Ter nonsense NM_001408479.1:c.1991G>A NP_001395408.1:p.Trp664Ter nonsense NM_001408480.1:c.1991G>A NP_001395409.1:p.Trp664Ter nonsense NM_001408481.1:c.1988G>A NP_001395410.1:p.Trp663Ter nonsense NM_001408482.1:c.1988G>A NP_001395411.1:p.Trp663Ter nonsense NM_001408483.1:c.1988G>A NP_001395412.1:p.Trp663Ter nonsense NM_001408484.1:c.1988G>A NP_001395413.1:p.Trp663Ter nonsense NM_001408485.1:c.1988G>A NP_001395414.1:p.Trp663Ter nonsense NM_001408489.1:c.1988G>A NP_001395418.1:p.Trp663Ter nonsense NM_001408490.1:c.1988G>A NP_001395419.1:p.Trp663Ter nonsense NM_001408491.1:c.1988G>A NP_001395420.1:p.Trp663Ter nonsense NM_001408492.1:c.1985G>A NP_001395421.1:p.Trp662Ter nonsense NM_001408493.1:c.1985G>A NP_001395422.1:p.Trp662Ter nonsense NM_001408494.1:c.1961G>A NP_001395423.1:p.Trp654Ter nonsense NM_001408495.1:c.1955G>A NP_001395424.1:p.Trp652Ter nonsense NM_001408496.1:c.1937G>A NP_001395425.1:p.Trp646Ter nonsense NM_001408497.1:c.1937G>A NP_001395426.1:p.Trp646Ter nonsense NM_001408498.1:c.1937G>A NP_001395427.1:p.Trp646Ter nonsense NM_001408499.1:c.1937G>A NP_001395428.1:p.Trp646Ter nonsense NM_001408500.1:c.1937G>A NP_001395429.1:p.Trp646Ter nonsense NM_001408501.1:c.1937G>A NP_001395430.1:p.Trp646Ter nonsense NM_001408502.1:c.1934G>A NP_001395431.1:p.Trp645Ter nonsense NM_001408503.1:c.1934G>A NP_001395432.1:p.Trp645Ter nonsense NM_001408504.1:c.1934G>A NP_001395433.1:p.Trp645Ter nonsense NM_001408505.1:c.1931G>A NP_001395434.1:p.Trp644Ter nonsense NM_001408506.1:c.1874G>A NP_001395435.1:p.Trp625Ter nonsense NM_001408507.1:c.1871G>A NP_001395436.1:p.Trp624Ter nonsense NM_001408508.1:c.1862G>A NP_001395437.1:p.Trp621Ter nonsense NM_001408509.1:c.1859G>A NP_001395438.1:p.Trp620Ter nonsense NM_001408510.1:c.1820G>A NP_001395439.1:p.Trp607Ter nonsense NM_001408511.1:c.1817G>A NP_001395440.1:p.Trp606Ter nonsense NM_001408512.1:c.1697G>A NP_001395441.1:p.Trp566Ter nonsense NM_001408513.1:c.1670G>A NP_001395442.1:p.Trp557Ter nonsense NM_001408514.1:c.1274G>A NP_001395443.1:p.Trp425Ter nonsense NM_007297.4:c.5369G>A NP_009228.2:p.Trp1790Ter nonsense NM_007298.4:c.2198G>A NP_009229.2:p.Trp733Ter nonsense NM_007299.4:c.*24G>A 3 prime UTR NM_007300.4:c.5573G>A NP_009231.2:p.Trp1858Ter nonsense NM_007304.2:c.2198G>A NP_009235.2:p.Trp733Ter nonsense NR_027676.2:n.5687G>A non-coding transcript variant NC_000017.11:g.43045760C>T NC_000017.10:g.41197777C>T NG_005905.2:g.172224G>A LRG_292:g.172224G>A LRG_292t1:c.5510G>A LRG_292p1:p.Trp1837Ter U14680.1:n.5629G>A - Protein change
- W1837*, W733*, W1858*, W1790*, W1708*, W1709*, W1725*, W1747*, W1768*, W1796*, W1811*, W1833*, W620*, W621*, W624*, W645*, W664*, W666*, W667*, W687*, W695*, W707*, W708*, W730*, W1668*, W1748*, W1749*, W1766*, W1769*, W1789*, W1817*, W1836*, W1857*, W425*, W606*, W663*, W731*, W756*, W968*, W969*, W1541*, W1710*, W1724*, W1726*, W1765*, W1770*, W1788*, W1793*, W1794*, W1809*, W1810*, W1834*, W1859*, W566*, W607*, W625*, W644*, W654*, W662*, W686*, W689*, W692*, W732*, W755*, W1540*, W1683*, W1753*, W1767*, W1795*, W1818*, W1832*, W1835*, W557*, W646*, W652*, W685*, W691*, W693*, W694*, W709*, W734*
- Other names
- 5629G>A
- Canonical SPDI
- NC_000017.11:43045759:C: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.5510G>A, a NONSENSE variant, produced a function score of -1.61, 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 |
12746 | 14510 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112689.15 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 3, 2021 | RCV000218206.10 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 7, 2024 | RCV000496922.15 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 23, 2020 | RCV001268343.11 | |
Pathogenic (1) |
no assertion criteria provided
|
Feb 21, 2023 | RCV003128134.8 |
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
(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: SCV000300272.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447198.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Breast carcinoma (present) , Neoplasm of ovary (present)
Sex: female
|
|
Pathogenic
(Jun 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002555627.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Variant summary: BRCA1 c.5510G>A (p.Trp1837X) results in a premature termination codon in the last exon, predicted to cause a truncation of the encoded protein or … (more)
Variant summary: BRCA1 c.5510G>A (p.Trp1837X) results in a premature termination codon in the last exon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position has been classified as pathogenic by our laboratory. The variant was absent in 251336 control chromosomes. c.5510G>A has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example Couch_1996, Frank_1998, Vallon-Christersson_2001, Foretova_2004, Judkins_2005, Konecny_2011, Donenberg_2016). These data indicate that the variant is very likely to be associated with disease. Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Dec 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000273035.4
First in ClinVar: May 29, 2016 Last updated: Nov 29, 2022 |
Comment:
The p.W1837* pathogenic mutation (also known as c.5510G>A), located in coding exon 22 of the BRCA1 gene, results from a G to A substitution at … (more)
The p.W1837* pathogenic mutation (also known as c.5510G>A), located in coding exon 22 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5510. This alteration occurs at the 3' terminus of theBRCA1 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 27 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This alteration has been identified in multiple individuals diagnosed with breast and/or ovarian cancer (Foretova L et al. Hum Mutat. 2004 Apr;23(4):397-8; Machackova E et al. BMC Cancer 2008 May;8:140; Sokolenko AP et al. Mol. Biol. Rep. 2016 May;43(5):335-8; Liang Y et al. Med Sci Monit, 2018 Apr;24:2465-2475). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). Of note, this alteration is also designated as 5629G>A in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
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Pathogenic
(Apr 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469401.2
First in ClinVar: Jan 26, 2021 Last updated: Dec 31, 2022 |
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in individuals with hereditary breast and/or ovarian cancer … (more)
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in individuals with hereditary breast and/or ovarian cancer in the published literature (PMID: 29446198 (2018), 29681614 (2018), 27469594 (2016), 15024741 (2004), 8807330 (1996)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004217003.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 07, 2024)
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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
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Invitae
Accession: SCV001578518.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Trp1837*) 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.Trp1837*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with high risk of hereditary breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 55608). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects BRCA1 function (PMID: 11157798, 30209399). 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, 20104584, 21922593, 24504028). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326348.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(May 29, 2002)
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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: SCV000145558.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Czech Republic
Observation 3:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: France
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Pathogenic
(Feb 21, 2023)
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no assertion criteria provided
Method: clinical testing
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Uterine corpus cancer
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV003804348.1
First in ClinVar: Feb 25, 2023 Last updated: Feb 25, 2023 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587517.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001244037.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.61165131759898
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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. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001244037.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5510G>A, a NONSENSE variant, produced a function score of -1.61, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5510G>A, a NONSENSE variant, produced a function score of -1.61, 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)
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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 |
Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing. | Liang Y | Medical science monitor : international medical journal of experimental and clinical research | 2018 | PMID: 29681614 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. | Donenberg T | Breast cancer research and treatment | 2016 | PMID: 27469594 |
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. | Konecny M | Breast cancer research and treatment | 2011 | PMID: 21203900 |
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 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. | Foretova L | Human mutation | 2004 | PMID: 15024741 |
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 analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. | Vallon-Christersson J | Human molecular genetics | 2001 | PMID: 11157798 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. | Frank TS | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1998 | PMID: 9667259 |
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. | Couch FJ | Human mutation | 1996 | PMID: 8807330 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357307 ...
HelpRecord last updated Mar 23, 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.