ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
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.5497_5506del (p.Val1833fs)
Variation ID: 55599 Accession: VCV000055599.7
- Type and length
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Deletion, 10 bp
- Location
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Cytogenetic: 17q21.31 17: 43045764-43045773 (GRCh38) [ NCBI UCSC ] 17: 41197781-41197790 (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 Jan 25, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5497_5506del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1833fs frameshift NM_001407571.1:c.5283_5292delGGTGACCCGA NP_001394500.1:p.Val1762Serfs frameshift NM_001407581.1:c.5562_5571delGGTGACCCGA NP_001394510.1:p.Val1855Serfs frameshift NM_001407582.1:c.5562_5571delGGTGACCCGA NP_001394511.1:p.Val1855Serfs frameshift NM_001407583.1:c.5559_5568delGGTGACCCGA NP_001394512.1:p.Val1854Serfs frameshift NM_001407585.1:c.5559_5568delGGTGACCCGA NP_001394514.1:p.Val1854Serfs frameshift NM_001407587.1:c.5559_5568delGGTGACCCGA NP_001394516.1:p.Val1854Serfs frameshift NM_001407590.1:c.5556_5565delGGTGACCCGA NP_001394519.1:p.Val1853Serfs frameshift NM_001407591.1:c.5556_5565delGGTGACCCGA NP_001394520.1:p.Val1853Serfs frameshift NM_001407593.1:c.5496_5505delGGTGACCCGA NP_001394522.1:p.Val1833Serfs frameshift NM_001407594.1:c.5496_5505delGGTGACCCGA NP_001394523.1:p.Val1833Serfs frameshift NM_001407596.1:c.5496_5505delGGTGACCCGA NP_001394525.1:p.Val1833Serfs frameshift NM_001407597.1:c.5496_5505delGGTGACCCGA NP_001394526.1:p.Val1833Serfs frameshift NM_001407598.1:c.5496_5505delGGTGACCCGA NP_001394527.1:p.Val1833Serfs frameshift NM_001407602.1:c.5496_5505delGGTGACCCGA NP_001394531.1:p.Val1833Serfs frameshift NM_001407603.1:c.5496_5505delGGTGACCCGA NP_001394532.1:p.Val1833Serfs frameshift NM_001407605.1:c.5496_5505delGGTGACCCGA NP_001394534.1:p.Val1833Serfs frameshift NM_001407610.1:c.5493_5502delGGTGACCCGA NP_001394539.1:p.Val1832Serfs frameshift NM_001407611.1:c.5493_5502delGGTGACCCGA NP_001394540.1:p.Val1832Serfs frameshift NM_001407612.1:c.5493_5502delGGTGACCCGA NP_001394541.1:p.Val1832Serfs frameshift NM_001407613.1:c.5493_5502delGGTGACCCGA NP_001394542.1:p.Val1832Serfs frameshift NM_001407614.1:c.5493_5502delGGTGACCCGA NP_001394543.1:p.Val1832Serfs frameshift NM_001407615.1:c.5493_5502delGGTGACCCGA NP_001394544.1:p.Val1832Serfs frameshift NM_001407616.1:c.5493_5502delGGTGACCCGA NP_001394545.1:p.Val1832Serfs frameshift NM_001407617.1:c.5493_5502delGGTGACCCGA NP_001394546.1:p.Val1832Serfs frameshift NM_001407618.1:c.5493_5502delGGTGACCCGA NP_001394547.1:p.Val1832Serfs frameshift NM_001407619.1:c.5493_5502delGGTGACCCGA NP_001394548.1:p.Val1832Serfs frameshift NM_001407620.1:c.5493_5502delGGTGACCCGA NP_001394549.1:p.Val1832Serfs frameshift NM_001407621.1:c.5493_5502delGGTGACCCGA NP_001394550.1:p.Val1832Serfs frameshift NM_001407622.1:c.5493_5502delGGTGACCCGA NP_001394551.1:p.Val1832Serfs frameshift NM_001407623.1:c.5493_5502delGGTGACCCGA NP_001394552.1:p.Val1832Serfs frameshift NM_001407624.1:c.5493_5502delGGTGACCCGA NP_001394553.1:p.Val1832Serfs frameshift NM_001407625.1:c.5493_5502delGGTGACCCGA NP_001394554.1:p.Val1832Serfs frameshift NM_001407626.1:c.5493_5502delGGTGACCCGA NP_001394555.1:p.Val1832Serfs frameshift NM_001407627.1:c.5490_5499delGGTGACCCGA NP_001394556.1:p.Val1831Serfs frameshift NM_001407628.1:c.5490_5499delGGTGACCCGA NP_001394557.1:p.Val1831Serfs frameshift NM_001407629.1:c.5490_5499delGGTGACCCGA NP_001394558.1:p.Val1831Serfs frameshift NM_001407630.1:c.5490_5499delGGTGACCCGA NP_001394559.1:p.Val1831Serfs frameshift NM_001407631.1:c.5490_5499delGGTGACCCGA NP_001394560.1:p.Val1831Serfs frameshift NM_001407632.1:c.5490_5499delGGTGACCCGA NP_001394561.1:p.Val1831Serfs frameshift NM_001407633.1:c.5490_5499delGGTGACCCGA NP_001394562.1:p.Val1831Serfs frameshift NM_001407634.1:c.5490_5499delGGTGACCCGA NP_001394563.1:p.Val1831Serfs frameshift NM_001407635.1:c.5490_5499delGGTGACCCGA NP_001394564.1:p.Val1831Serfs frameshift NM_001407636.1:c.5490_5499delGGTGACCCGA NP_001394565.1:p.Val1831Serfs frameshift NM_001407637.1:c.5490_5499delGGTGACCCGA NP_001394566.1:p.Val1831Serfs frameshift NM_001407638.1:c.5490_5499delGGTGACCCGA NP_001394567.1:p.Val1831Serfs frameshift NM_001407639.1:c.5490_5499delGGTGACCCGA NP_001394568.1:p.Val1831Serfs frameshift NM_001407640.1:c.5490_5499delGGTGACCCGA NP_001394569.1:p.Val1831Serfs frameshift NM_001407641.1:c.5490_5499delGGTGACCCGA NP_001394570.1:p.Val1831Serfs frameshift NM_001407642.1:c.5490_5499delGGTGACCCGA NP_001394571.1:p.Val1831Serfs frameshift NM_001407644.1:c.5487_5496delGGTGACCCGA NP_001394573.1:p.Val1830Serfs frameshift NM_001407645.1:c.5487_5496delGGTGACCCGA NP_001394574.1:p.Val1830Serfs frameshift NM_001407646.1:c.5484_5493delGGTGACCCGA NP_001394575.1:p.Val1829Serfs frameshift NM_001407647.1:c.5481_5490delGGTGACCCGA NP_001394576.1:p.Val1828Serfs frameshift NM_001407648.1:c.5439_5448delGGTGACCCGA NP_001394577.1:p.Val1814Serfs frameshift NM_001407649.1:c.5436_5445delGGTGACCCGA NP_001394578.1:p.Val1813Serfs frameshift NM_001407652.1:c.5418_5427delGGTGACCCGA NP_001394581.1:p.Val1807Serfs frameshift NM_001407653.1:c.5418_5427delGGTGACCCGA NP_001394582.1:p.Val1807Serfs frameshift NM_001407654.1:c.5418_5427delGGTGACCCGA NP_001394583.1:p.Val1807Serfs frameshift NM_001407655.1:c.5418_5427delGGTGACCCGA NP_001394584.1:p.Val1807Serfs frameshift NM_001407656.1:c.5415_5424delGGTGACCCGA NP_001394585.1:p.Val1806Serfs frameshift NM_001407657.1:c.5415_5424delGGTGACCCGA NP_001394586.1:p.Val1806Serfs frameshift NM_001407658.1:c.5415_5424delGGTGACCCGA NP_001394587.1:p.Val1806Serfs frameshift NM_001407659.1:c.5412_5421delGGTGACCCGA NP_001394588.1:p.Val1805Serfs frameshift NM_001407660.1:c.5412_5421delGGTGACCCGA NP_001394589.1:p.Val1805Serfs frameshift NM_001407661.1:c.5412_5421delGGTGACCCGA NP_001394590.1:p.Val1805Serfs frameshift NM_001407662.1:c.5412_5421delGGTGACCCGA NP_001394591.1:p.Val1805Serfs frameshift NM_001407663.1:c.5412_5421delGGTGACCCGA NP_001394592.1:p.Val1805Serfs frameshift NM_001407664.1:c.5373_5382delGGTGACCCGA NP_001394593.1:p.Val1792Serfs frameshift NM_001407665.1:c.5373_5382delGGTGACCCGA NP_001394594.1:p.Val1792Serfs frameshift NM_001407666.1:c.5373_5382delGGTGACCCGA NP_001394595.1:p.Val1792Serfs frameshift NM_001407667.1:c.5373_5382delGGTGACCCGA NP_001394596.1:p.Val1792Serfs frameshift NM_001407668.1:c.5373_5382delGGTGACCCGA NP_001394597.1:p.Val1792Serfs frameshift NM_001407669.1:c.5373_5382delGGTGACCCGA NP_001394598.1:p.Val1792Serfs frameshift NM_001407670.1:c.5370_5379delGGTGACCCGA NP_001394599.1:p.Val1791Serfs frameshift NM_001407671.1:c.5370_5379delGGTGACCCGA NP_001394600.1:p.Val1791Serfs frameshift NM_001407672.1:c.5370_5379delGGTGACCCGA NP_001394601.1:p.Val1791Serfs frameshift NM_001407673.1:c.5370_5379delGGTGACCCGA NP_001394602.1:p.Val1791Serfs frameshift NM_001407674.1:c.5370_5379delGGTGACCCGA NP_001394603.1:p.Val1791Serfs frameshift NM_001407675.1:c.5370_5379delGGTGACCCGA NP_001394604.1:p.Val1791Serfs frameshift NM_001407676.1:c.5370_5379delGGTGACCCGA NP_001394605.1:p.Val1791Serfs frameshift NM_001407677.1:c.5370_5379delGGTGACCCGA NP_001394606.1:p.Val1791Serfs frameshift NM_001407678.1:c.5370_5379delGGTGACCCGA NP_001394607.1:p.Val1791Serfs frameshift NM_001407679.1:c.5370_5379delGGTGACCCGA NP_001394608.1:p.Val1791Serfs frameshift NM_001407680.1:c.5370_5379delGGTGACCCGA NP_001394609.1:p.Val1791Serfs frameshift NM_001407681.1:c.5367_5376delGGTGACCCGA NP_001394610.1:p.Val1790Serfs frameshift NM_001407682.1:c.5367_5376delGGTGACCCGA NP_001394611.1:p.Val1790Serfs frameshift NM_001407683.1:c.5367_5376delGGTGACCCGA NP_001394612.1:p.Val1790Serfs frameshift NM_001407684.1:c.5367_5376delGGTGACCCGA NP_001394613.1:p.Val1790Serfs frameshift NM_001407685.1:c.5367_5376delGGTGACCCGA NP_001394614.1:p.Val1790Serfs frameshift NM_001407686.1:c.5367_5376delGGTGACCCGA NP_001394615.1:p.Val1790Serfs frameshift NM_001407687.1:c.5367_5376delGGTGACCCGA NP_001394616.1:p.Val1790Serfs frameshift NM_001407688.1:c.5367_5376delGGTGACCCGA NP_001394617.1:p.Val1790Serfs frameshift NM_001407689.1:c.5367_5376delGGTGACCCGA NP_001394618.1:p.Val1790Serfs frameshift NM_001407690.1:c.5364_5373delGGTGACCCGA NP_001394619.1:p.Val1789Serfs frameshift NM_001407691.1:c.5364_5373delGGTGACCCGA NP_001394620.1:p.Val1789Serfs frameshift NM_001407692.1:c.5355_5364delGGTGACCCGA NP_001394621.1:p.Val1786Serfs frameshift NM_001407694.1:c.5355_5364delGGTGACCCGA NP_001394623.1:p.Val1786Serfs frameshift NM_001407695.1:c.5355_5364delGGTGACCCGA NP_001394624.1:p.Val1786Serfs frameshift NM_001407696.1:c.5355_5364delGGTGACCCGA NP_001394625.1:p.Val1786Serfs frameshift NM_001407697.1:c.5355_5364delGGTGACCCGA NP_001394626.1:p.Val1786Serfs frameshift NM_001407698.1:c.5355_5364delGGTGACCCGA NP_001394627.1:p.Val1786Serfs frameshift NM_001407724.1:c.5355_5364delGGTGACCCGA NP_001394653.1:p.Val1786Serfs frameshift NM_001407725.1:c.5355_5364delGGTGACCCGA NP_001394654.1:p.Val1786Serfs frameshift NM_001407726.1:c.5355_5364delGGTGACCCGA NP_001394655.1:p.Val1786Serfs frameshift NM_001407727.1:c.5355_5364delGGTGACCCGA NP_001394656.1:p.Val1786Serfs frameshift NM_001407728.1:c.5355_5364delGGTGACCCGA NP_001394657.1:p.Val1786Serfs frameshift NM_001407729.1:c.5355_5364delGGTGACCCGA NP_001394658.1:p.Val1786Serfs frameshift NM_001407730.1:c.5355_5364delGGTGACCCGA NP_001394659.1:p.Val1786Serfs frameshift NM_001407731.1:c.5355_5364delGGTGACCCGA NP_001394660.1:p.Val1786Serfs frameshift NM_001407732.1:c.5352_5361delGGTGACCCGA NP_001394661.1:p.Val1785Serfs frameshift NM_001407733.1:c.5352_5361delGGTGACCCGA NP_001394662.1:p.Val1785Serfs frameshift NM_001407734.1:c.5352_5361delGGTGACCCGA NP_001394663.1:p.Val1785Serfs frameshift NM_001407735.1:c.5352_5361delGGTGACCCGA NP_001394664.1:p.Val1785Serfs frameshift NM_001407736.1:c.5352_5361delGGTGACCCGA NP_001394665.1:p.Val1785Serfs frameshift NM_001407737.1:c.5352_5361delGGTGACCCGA NP_001394666.1:p.Val1785Serfs frameshift NM_001407738.1:c.5352_5361delGGTGACCCGA NP_001394667.1:p.Val1785Serfs frameshift NM_001407739.1:c.5352_5361delGGTGACCCGA NP_001394668.1:p.Val1785Serfs frameshift NM_001407740.1:c.5352_5361delGGTGACCCGA NP_001394669.1:p.Val1785Serfs frameshift NM_001407741.1:c.5352_5361delGGTGACCCGA NP_001394670.1:p.Val1785Serfs frameshift NM_001407742.1:c.5352_5361delGGTGACCCGA NP_001394671.1:p.Val1785Serfs frameshift NM_001407743.1:c.5352_5361delGGTGACCCGA NP_001394672.1:p.Val1785Serfs frameshift NM_001407744.1:c.5352_5361delGGTGACCCGA NP_001394673.1:p.Val1785Serfs frameshift NM_001407745.1:c.5352_5361delGGTGACCCGA NP_001394674.1:p.Val1785Serfs frameshift NM_001407746.1:c.5352_5361delGGTGACCCGA NP_001394675.1:p.Val1785Serfs frameshift NM_001407747.1:c.5352_5361delGGTGACCCGA NP_001394676.1:p.Val1785Serfs frameshift NM_001407748.1:c.5352_5361delGGTGACCCGA NP_001394677.1:p.Val1785Serfs frameshift NM_001407749.1:c.5352_5361delGGTGACCCGA NP_001394678.1:p.Val1785Serfs frameshift NM_001407750.1:c.5352_5361delGGTGACCCGA NP_001394679.1:p.Val1785Serfs frameshift NM_001407751.1:c.5352_5361delGGTGACCCGA NP_001394680.1:p.Val1785Serfs frameshift NM_001407752.1:c.5352_5361delGGTGACCCGA NP_001394681.1:p.Val1785Serfs frameshift NM_001407838.1:c.5349_5358delGGTGACCCGA NP_001394767.1:p.Val1784Serfs frameshift NM_001407839.1:c.5349_5358delGGTGACCCGA NP_001394768.1:p.Val1784Serfs frameshift NM_001407841.1:c.5349_5358delGGTGACCCGA NP_001394770.1:p.Val1784Serfs frameshift NM_001407842.1:c.5349_5358delGGTGACCCGA NP_001394771.1:p.Val1784Serfs frameshift NM_001407843.1:c.5349_5358delGGTGACCCGA NP_001394772.1:p.Val1784Serfs frameshift NM_001407844.1:c.5349_5358delGGTGACCCGA NP_001394773.1:p.Val1784Serfs frameshift NM_001407845.1:c.5349_5358delGGTGACCCGA NP_001394774.1:p.Val1784Serfs frameshift NM_001407846.1:c.5349_5358delGGTGACCCGA NP_001394775.1:p.Val1784Serfs frameshift NM_001407847.1:c.5349_5358delGGTGACCCGA NP_001394776.1:p.Val1784Serfs frameshift NM_001407848.1:c.5349_5358delGGTGACCCGA NP_001394777.1:p.Val1784Serfs frameshift NM_001407849.1:c.5349_5358delGGTGACCCGA NP_001394778.1:p.Val1784Serfs frameshift NM_001407850.1:c.5349_5358delGGTGACCCGA NP_001394779.1:p.Val1784Serfs frameshift NM_001407851.1:c.5349_5358delGGTGACCCGA NP_001394780.1:p.Val1784Serfs frameshift NM_001407852.1:c.5349_5358delGGTGACCCGA NP_001394781.1:p.Val1784Serfs frameshift NM_001407853.1:c.5349_5358delGGTGACCCGA NP_001394782.1:p.Val1784Serfs frameshift NM_001407854.1:c.*10_*19delGGTGACCCGA NM_001407858.1:c.*10_*19delGGTGACCCGA NM_001407859.1:c.*10_*19delGGTGACCCGA NM_001407860.1:c.*10_*19delGGTGACCCGA NM_001407861.1:c.*10_*19delGGTGACCCGA NM_001407862.1:c.5295_5304delGGTGACCCGA NP_001394791.1:p.Val1766Serfs frameshift NM_001407863.1:c.5292_5301delGGTGACCCGA NP_001394792.1:p.Val1765Serfs frameshift NM_001407874.1:c.5289_5298delGGTGACCCGA NP_001394803.1:p.Val1764Serfs frameshift NM_001407875.1:c.5289_5298delGGTGACCCGA NP_001394804.1:p.Val1764Serfs frameshift NM_001407879.1:c.5286_5295delGGTGACCCGA NP_001394808.1:p.Val1763Serfs frameshift NM_001407881.1:c.5286_5295delGGTGACCCGA NP_001394810.1:p.Val1763Serfs frameshift NM_001407882.1:c.5286_5295delGGTGACCCGA NP_001394811.1:p.Val1763Serfs frameshift NM_001407884.1:c.5286_5295delGGTGACCCGA NP_001394813.1:p.Val1763Serfs frameshift NM_001407885.1:c.5286_5295delGGTGACCCGA NP_001394814.1:p.Val1763Serfs frameshift NM_001407886.1:c.5286_5295delGGTGACCCGA NP_001394815.1:p.Val1763Serfs frameshift NM_001407887.1:c.5286_5295delGGTGACCCGA NP_001394816.1:p.Val1763Serfs frameshift NM_001407889.1:c.5286_5295delGGTGACCCGA NP_001394818.1:p.Val1763Serfs frameshift NM_001407894.1:c.5283_5292delGGTGACCCGA NP_001394823.1:p.Val1762Serfs frameshift NM_001407895.1:c.5283_5292delGGTGACCCGA NP_001394824.1:p.Val1762Serfs frameshift NM_001407896.1:c.5283_5292delGGTGACCCGA NP_001394825.1:p.Val1762Serfs frameshift NM_001407897.1:c.5283_5292delGGTGACCCGA NP_001394826.1:p.Val1762Serfs frameshift NM_001407898.1:c.5283_5292delGGTGACCCGA NP_001394827.1:p.Val1762Serfs frameshift NM_001407899.1:c.5283_5292delGGTGACCCGA NP_001394828.1:p.Val1762Serfs frameshift NM_001407900.1:c.5283_5292delGGTGACCCGA NP_001394829.1:p.Val1762Serfs frameshift NM_001407902.1:c.5283_5292delGGTGACCCGA NP_001394831.1:p.Val1762Serfs frameshift NM_001407904.1:c.5283_5292delGGTGACCCGA NP_001394833.1:p.Val1762Serfs frameshift NM_001407906.1:c.5283_5292delGGTGACCCGA NP_001394835.1:p.Val1762Serfs frameshift NM_001407907.1:c.5283_5292delGGTGACCCGA NP_001394836.1:p.Val1762Serfs frameshift NM_001407908.1:c.5283_5292delGGTGACCCGA NP_001394837.1:p.Val1762Serfs frameshift NM_001407909.1:c.5283_5292delGGTGACCCGA NP_001394838.1:p.Val1762Serfs frameshift NM_001407910.1:c.5283_5292delGGTGACCCGA NP_001394839.1:p.Val1762Serfs frameshift NM_001407915.1:c.5280_5289delGGTGACCCGA NP_001394844.1:p.Val1761Serfs frameshift NM_001407916.1:c.5280_5289delGGTGACCCGA NP_001394845.1:p.Val1761Serfs frameshift NM_001407917.1:c.5280_5289delGGTGACCCGA NP_001394846.1:p.Val1761Serfs frameshift NM_001407918.1:c.5280_5289delGGTGACCCGA NP_001394847.1:p.Val1761Serfs frameshift NM_001407919.1:c.5244_5253delGGTGACCCGA NP_001394848.1:p.Val1749Serfs frameshift NM_001407920.1:c.5232_5241delGGTGACCCGA NP_001394849.1:p.Val1745Serfs frameshift NM_001407921.1:c.5232_5241delGGTGACCCGA NP_001394850.1:p.Val1745Serfs frameshift NM_001407922.1:c.5232_5241delGGTGACCCGA NP_001394851.1:p.Val1745Serfs frameshift NM_001407923.1:c.5232_5241delGGTGACCCGA NP_001394852.1:p.Val1745Serfs frameshift NM_001407924.1:c.5232_5241delGGTGACCCGA NP_001394853.1:p.Val1745Serfs frameshift NM_001407925.1:c.5232_5241delGGTGACCCGA NP_001394854.1:p.Val1745Serfs frameshift NM_001407926.1:c.5232_5241delGGTGACCCGA NP_001394855.1:p.Val1745Serfs frameshift NM_001407927.1:c.5229_5238delGGTGACCCGA NP_001394856.1:p.Val1744Serfs frameshift NM_001407928.1:c.5229_5238delGGTGACCCGA NP_001394857.1:p.Val1744Serfs frameshift NM_001407929.1:c.5229_5238delGGTGACCCGA NP_001394858.1:p.Val1744Serfs frameshift NM_001407930.1:c.5229_5238delGGTGACCCGA NP_001394859.1:p.Val1744Serfs frameshift NM_001407931.1:c.5229_5238delGGTGACCCGA NP_001394860.1:p.Val1744Serfs frameshift NM_001407932.1:c.5229_5238delGGTGACCCGA NP_001394861.1:p.Val1744Serfs frameshift NM_001407933.1:c.5229_5238delGGTGACCCGA NP_001394862.1:p.Val1744Serfs frameshift NM_001407934.1:c.5226_5235delGGTGACCCGA NP_001394863.1:p.Val1743Serfs frameshift NM_001407935.1:c.5226_5235delGGTGACCCGA NP_001394864.1:p.Val1743Serfs frameshift NM_001407936.1:c.5226_5235delGGTGACCCGA NP_001394865.1:p.Val1743Serfs frameshift NM_001407937.1:c.*10_*19delGGTGACCCGA NM_001407938.1:c.*10_*19delGGTGACCCGA NM_001407939.1:c.*10_*19delGGTGACCCGA NM_001407940.1:c.*10_*19delGGTGACCCGA NM_001407941.1:c.*10_*19delGGTGACCCGA NM_001407942.1:c.*10_*19delGGTGACCCGA NM_001407943.1:c.*10_*19delGGTGACCCGA NM_001407944.1:c.*10_*19delGGTGACCCGA NM_001407945.1:c.*10_*19delGGTGACCCGA NM_001407946.1:c.5163_5172delGGTGACCCGA NP_001394875.1:p.Val1722Serfs frameshift NM_001407947.1:c.5163_5172delGGTGACCCGA NP_001394876.1:p.Val1722Serfs frameshift NM_001407948.1:c.5163_5172delGGTGACCCGA NP_001394877.1:p.Val1722Serfs frameshift NM_001407949.1:c.5163_5172delGGTGACCCGA NP_001394878.1:p.Val1722Serfs frameshift NM_001407950.1:c.5160_5169delGGTGACCCGA NP_001394879.1:p.Val1721Serfs frameshift NM_001407951.1:c.5160_5169delGGTGACCCGA NP_001394880.1:p.Val1721Serfs frameshift NM_001407952.1:c.5160_5169delGGTGACCCGA NP_001394881.1:p.Val1721Serfs frameshift NM_001407953.1:c.5160_5169delGGTGACCCGA NP_001394882.1:p.Val1721Serfs frameshift NM_001407954.1:c.5160_5169delGGTGACCCGA NP_001394883.1:p.Val1721Serfs frameshift NM_001407955.1:c.5160_5169delGGTGACCCGA NP_001394884.1:p.Val1721Serfs frameshift NM_001407956.1:c.5157_5166delGGTGACCCGA NP_001394885.1:p.Val1720Serfs frameshift NM_001407957.1:c.5157_5166delGGTGACCCGA NP_001394886.1:p.Val1720Serfs frameshift NM_001407958.1:c.5157_5166delGGTGACCCGA NP_001394887.1:p.Val1720Serfs frameshift NM_001407959.1:c.5115_5124delGGTGACCCGA NP_001394888.1:p.Val1706Serfs frameshift NM_001407960.1:c.5112_5121delGGTGACCCGA NP_001394889.1:p.Val1705Serfs frameshift NM_001407962.1:c.5112_5121delGGTGACCCGA NP_001394891.1:p.Val1705Serfs frameshift NM_001407963.1:c.5109_5118delGGTGACCCGA NP_001394892.1:p.Val1704Serfs frameshift NM_001407964.1:c.5034_5043delGGTGACCCGA NP_001394893.1:p.Val1679Serfs frameshift NM_001407965.1:c.4989_4998delGGTGACCCGA NP_001394894.1:p.Val1664Serfs frameshift NM_001407966.1:c.4608_4617delGGTGACCCGA NP_001394895.1:p.Val1537Serfs frameshift NM_001407967.1:c.4605_4614delGGTGACCCGA NP_001394896.1:p.Val1536Serfs frameshift NM_001407968.1:c.2892_2901delGGTGACCCGA NP_001394897.1:p.Val965Serfs frameshift NM_001407969.1:c.2889_2898delGGTGACCCGA NP_001394898.1:p.Val964Serfs frameshift NM_001407970.1:c.2253_2262delGGTGACCCGA NP_001394899.1:p.Val752Serfs frameshift NM_001407971.1:c.2253_2262delGGTGACCCGA NP_001394900.1:p.Val752Serfs frameshift NM_001407972.1:c.2250_2259delGGTGACCCGA NP_001394901.1:p.Val751Serfs frameshift NM_001407973.1:c.2187_2196delGGTGACCCGA NP_001394902.1:p.Val730Serfs frameshift NM_001407974.1:c.2187_2196delGGTGACCCGA NP_001394903.1:p.Val730Serfs frameshift NM_001407975.1:c.2187_2196delGGTGACCCGA NP_001394904.1:p.Val730Serfs frameshift NM_001407976.1:c.2187_2196delGGTGACCCGA NP_001394905.1:p.Val730Serfs frameshift NM_001407977.1:c.2187_2196delGGTGACCCGA NP_001394906.1:p.Val730Serfs frameshift NM_001407978.1:c.2187_2196delGGTGACCCGA NP_001394907.1:p.Val730Serfs frameshift NM_001407979.1:c.2184_2193delGGTGACCCGA NP_001394908.1:p.Val729Serfs frameshift NM_001407980.1:c.2184_2193delGGTGACCCGA NP_001394909.1:p.Val729Serfs frameshift NM_001407981.1:c.2184_2193delGGTGACCCGA NP_001394910.1:p.Val729Serfs frameshift NM_001407982.1:c.2184_2193delGGTGACCCGA NP_001394911.1:p.Val729Serfs frameshift NM_001407983.1:c.2184_2193delGGTGACCCGA NP_001394912.1:p.Val729Serfs frameshift NM_001407984.1:c.2184_2193delGGTGACCCGA NP_001394913.1:p.Val729Serfs frameshift NM_001407985.1:c.2184_2193delGGTGACCCGA NP_001394914.1:p.Val729Serfs frameshift NM_001407986.1:c.2184_2193delGGTGACCCGA NP_001394915.1:p.Val729Serfs frameshift NM_001407990.1:c.2184_2193delGGTGACCCGA NP_001394919.1:p.Val729Serfs frameshift NM_001407991.1:c.2184_2193delGGTGACCCGA NP_001394920.1:p.Val729Serfs frameshift NM_001407992.1:c.2184_2193delGGTGACCCGA NP_001394921.1:p.Val729Serfs frameshift NM_001407993.1:c.2184_2193delGGTGACCCGA NP_001394922.1:p.Val729Serfs frameshift NM_001408392.1:c.2181_2190delGGTGACCCGA NP_001395321.1:p.Val728Serfs frameshift NM_001408396.1:c.2181_2190delGGTGACCCGA NP_001395325.1:p.Val728Serfs frameshift NM_001408397.1:c.2181_2190delGGTGACCCGA NP_001395326.1:p.Val728Serfs frameshift NM_001408398.1:c.2181_2190delGGTGACCCGA NP_001395327.1:p.Val728Serfs frameshift NM_001408399.1:c.2181_2190delGGTGACCCGA NP_001395328.1:p.Val728Serfs frameshift NM_001408400.1:c.2181_2190delGGTGACCCGA NP_001395329.1:p.Val728Serfs frameshift NM_001408401.1:c.2181_2190delGGTGACCCGA NP_001395330.1:p.Val728Serfs frameshift NM_001408402.1:c.2181_2190delGGTGACCCGA NP_001395331.1:p.Val728Serfs frameshift NM_001408403.1:c.2181_2190delGGTGACCCGA NP_001395332.1:p.Val728Serfs frameshift NM_001408404.1:c.2181_2190delGGTGACCCGA NP_001395333.1:p.Val728Serfs frameshift NM_001408406.1:c.2178_2187delGGTGACCCGA NP_001395335.1:p.Val727Serfs frameshift NM_001408407.1:c.2178_2187delGGTGACCCGA NP_001395336.1:p.Val727Serfs frameshift NM_001408408.1:c.2178_2187delGGTGACCCGA NP_001395337.1:p.Val727Serfs frameshift NM_001408409.1:c.2175_2184delGGTGACCCGA NP_001395338.1:p.Val726Serfs frameshift NM_001408410.1:c.2112_2121delGGTGACCCGA NP_001395339.1:p.Val705Serfs frameshift NM_001408411.1:c.2109_2118delGGTGACCCGA NP_001395340.1:p.Val704Serfs frameshift NM_001408412.1:c.2106_2115delGGTGACCCGA NP_001395341.1:p.Val703Serfs frameshift NM_001408413.1:c.2106_2115delGGTGACCCGA NP_001395342.1:p.Val703Serfs frameshift NM_001408414.1:c.2106_2115delGGTGACCCGA NP_001395343.1:p.Val703Serfs frameshift NM_001408415.1:c.2106_2115delGGTGACCCGA NP_001395344.1:p.Val703Serfs frameshift NM_001408416.1:c.2106_2115delGGTGACCCGA NP_001395345.1:p.Val703Serfs frameshift NM_001408418.1:c.2070_2079delGGTGACCCGA NP_001395347.1:p.Val691Serfs frameshift NM_001408419.1:c.2070_2079delGGTGACCCGA NP_001395348.1:p.Val691Serfs frameshift NM_001408420.1:c.2070_2079delGGTGACCCGA NP_001395349.1:p.Val691Serfs frameshift NM_001408421.1:c.2067_2076delGGTGACCCGA NP_001395350.1:p.Val690Serfs frameshift NM_001408422.1:c.2067_2076delGGTGACCCGA NP_001395351.1:p.Val690Serfs frameshift NM_001408423.1:c.2067_2076delGGTGACCCGA NP_001395352.1:p.Val690Serfs frameshift NM_001408424.1:c.2067_2076delGGTGACCCGA NP_001395353.1:p.Val690Serfs frameshift NM_001408425.1:c.2064_2073delGGTGACCCGA NP_001395354.1:p.Val689Serfs frameshift NM_001408426.1:c.2064_2073delGGTGACCCGA NP_001395355.1:p.Val689Serfs frameshift NM_001408427.1:c.2064_2073delGGTGACCCGA NP_001395356.1:p.Val689Serfs frameshift NM_001408428.1:c.2064_2073delGGTGACCCGA NP_001395357.1:p.Val689Serfs frameshift NM_001408429.1:c.2064_2073delGGTGACCCGA NP_001395358.1:p.Val689Serfs frameshift NM_001408430.1:c.2064_2073delGGTGACCCGA NP_001395359.1:p.Val689Serfs frameshift NM_001408431.1:c.2064_2073delGGTGACCCGA NP_001395360.1:p.Val689Serfs frameshift NM_001408432.1:c.2061_2070delGGTGACCCGA NP_001395361.1:p.Val688Serfs frameshift NM_001408433.1:c.2061_2070delGGTGACCCGA NP_001395362.1:p.Val688Serfs frameshift NM_001408434.1:c.2061_2070delGGTGACCCGA NP_001395363.1:p.Val688Serfs frameshift NM_001408435.1:c.2061_2070delGGTGACCCGA NP_001395364.1:p.Val688Serfs frameshift NM_001408436.1:c.2061_2070delGGTGACCCGA NP_001395365.1:p.Val688Serfs frameshift NM_001408437.1:c.2061_2070delGGTGACCCGA NP_001395366.1:p.Val688Serfs frameshift NM_001408438.1:c.2061_2070delGGTGACCCGA NP_001395367.1:p.Val688Serfs frameshift NM_001408439.1:c.2061_2070delGGTGACCCGA NP_001395368.1:p.Val688Serfs frameshift NM_001408440.1:c.2061_2070delGGTGACCCGA NP_001395369.1:p.Val688Serfs frameshift NM_001408441.1:c.2061_2070delGGTGACCCGA NP_001395370.1:p.Val688Serfs frameshift NM_001408442.1:c.2061_2070delGGTGACCCGA NP_001395371.1:p.Val688Serfs frameshift NM_001408443.1:c.2061_2070delGGTGACCCGA NP_001395372.1:p.Val688Serfs frameshift NM_001408444.1:c.2061_2070delGGTGACCCGA NP_001395373.1:p.Val688Serfs frameshift NM_001408445.1:c.2058_2067delGGTGACCCGA NP_001395374.1:p.Val687Serfs frameshift NM_001408446.1:c.2058_2067delGGTGACCCGA NP_001395375.1:p.Val687Serfs frameshift NM_001408447.1:c.2058_2067delGGTGACCCGA NP_001395376.1:p.Val687Serfs frameshift NM_001408448.1:c.2058_2067delGGTGACCCGA NP_001395377.1:p.Val687Serfs frameshift NM_001408450.1:c.2058_2067delGGTGACCCGA NP_001395379.1:p.Val687Serfs frameshift NM_001408451.1:c.2052_2061delGGTGACCCGA NP_001395380.1:p.Val685Serfs frameshift NM_001408452.1:c.2046_2055delGGTGACCCGA NP_001395381.1:p.Val683Serfs frameshift NM_001408453.1:c.2046_2055delGGTGACCCGA NP_001395382.1:p.Val683Serfs frameshift NM_001408454.1:c.2046_2055delGGTGACCCGA NP_001395383.1:p.Val683Serfs frameshift NM_001408455.1:c.2046_2055delGGTGACCCGA NP_001395384.1:p.Val683Serfs frameshift NM_001408456.1:c.2046_2055delGGTGACCCGA NP_001395385.1:p.Val683Serfs frameshift NM_001408457.1:c.2046_2055delGGTGACCCGA NP_001395386.1:p.Val683Serfs frameshift NM_001408458.1:c.2043_2052delGGTGACCCGA NP_001395387.1:p.Val682Serfs frameshift NM_001408459.1:c.2043_2052delGGTGACCCGA NP_001395388.1:p.Val682Serfs frameshift NM_001408460.1:c.2043_2052delGGTGACCCGA NP_001395389.1:p.Val682Serfs frameshift NM_001408461.1:c.2043_2052delGGTGACCCGA NP_001395390.1:p.Val682Serfs frameshift NM_001408462.1:c.2043_2052delGGTGACCCGA NP_001395391.1:p.Val682Serfs frameshift NM_001408463.1:c.2043_2052delGGTGACCCGA NP_001395392.1:p.Val682Serfs frameshift NM_001408464.1:c.2043_2052delGGTGACCCGA NP_001395393.1:p.Val682Serfs frameshift NM_001408465.1:c.2043_2052delGGTGACCCGA NP_001395394.1:p.Val682Serfs frameshift NM_001408466.1:c.2043_2052delGGTGACCCGA NP_001395395.1:p.Val682Serfs frameshift NM_001408467.1:c.2043_2052delGGTGACCCGA NP_001395396.1:p.Val682Serfs frameshift NM_001408468.1:c.2040_2049delGGTGACCCGA NP_001395397.1:p.Val681Serfs frameshift NM_001408469.1:c.2040_2049delGGTGACCCGA NP_001395398.1:p.Val681Serfs frameshift NM_001408470.1:c.2040_2049delGGTGACCCGA NP_001395399.1:p.Val681Serfs frameshift NM_001408472.1:c.*10_*19delGGTGACCCGA NM_001408473.1:c.*10_*19delGGTGACCCGA NM_001408474.1:c.1986_1995delGGTGACCCGA NP_001395403.1:p.Val663Serfs frameshift NM_001408475.1:c.1983_1992delGGTGACCCGA NP_001395404.1:p.Val662Serfs frameshift NM_001408476.1:c.1983_1992delGGTGACCCGA NP_001395405.1:p.Val662Serfs frameshift NM_001408478.1:c.1977_1986delGGTGACCCGA NP_001395407.1:p.Val660Serfs frameshift NM_001408479.1:c.1977_1986delGGTGACCCGA NP_001395408.1:p.Val660Serfs frameshift NM_001408480.1:c.1977_1986delGGTGACCCGA NP_001395409.1:p.Val660Serfs frameshift NM_001408481.1:c.1974_1983delGGTGACCCGA NP_001395410.1:p.Val659Serfs frameshift NM_001408482.1:c.1974_1983delGGTGACCCGA NP_001395411.1:p.Val659Serfs frameshift NM_001408483.1:c.1974_1983delGGTGACCCGA NP_001395412.1:p.Val659Serfs frameshift NM_001408484.1:c.1974_1983delGGTGACCCGA NP_001395413.1:p.Val659Serfs frameshift NM_001408485.1:c.1974_1983delGGTGACCCGA NP_001395414.1:p.Val659Serfs frameshift NM_001408489.1:c.1974_1983delGGTGACCCGA NP_001395418.1:p.Val659Serfs frameshift NM_001408490.1:c.1974_1983delGGTGACCCGA NP_001395419.1:p.Val659Serfs frameshift NM_001408491.1:c.1974_1983delGGTGACCCGA NP_001395420.1:p.Val659Serfs frameshift NM_001408492.1:c.1971_1980delGGTGACCCGA NP_001395421.1:p.Val658Serfs frameshift NM_001408493.1:c.1971_1980delGGTGACCCGA NP_001395422.1:p.Val658Serfs frameshift NM_001408494.1:c.1947_1956delGGTGACCCGA NP_001395423.1:p.Val650Serfs frameshift NM_001408495.1:c.1941_1950delGGTGACCCGA NP_001395424.1:p.Val648Serfs frameshift NM_001408496.1:c.1923_1932delGGTGACCCGA NP_001395425.1:p.Val642Serfs frameshift NM_001408497.1:c.1923_1932delGGTGACCCGA NP_001395426.1:p.Val642Serfs frameshift NM_001408498.1:c.1923_1932delGGTGACCCGA NP_001395427.1:p.Val642Serfs frameshift NM_001408499.1:c.1923_1932delGGTGACCCGA NP_001395428.1:p.Val642Serfs frameshift NM_001408500.1:c.1923_1932delGGTGACCCGA NP_001395429.1:p.Val642Serfs frameshift NM_001408501.1:c.1923_1932delGGTGACCCGA NP_001395430.1:p.Val642Serfs frameshift NM_001408502.1:c.1920_1929delGGTGACCCGA NP_001395431.1:p.Val641Serfs frameshift NM_001408503.1:c.1920_1929delGGTGACCCGA NP_001395432.1:p.Val641Serfs frameshift NM_001408504.1:c.1920_1929delGGTGACCCGA NP_001395433.1:p.Val641Serfs frameshift NM_001408505.1:c.1917_1926delGGTGACCCGA NP_001395434.1:p.Val640Serfs frameshift NM_001408506.1:c.1860_1869delGGTGACCCGA NP_001395435.1:p.Val621Serfs frameshift NM_001408507.1:c.1857_1866delGGTGACCCGA NP_001395436.1:p.Val620Serfs frameshift NM_001408508.1:c.1848_1857delGGTGACCCGA NP_001395437.1:p.Val617Serfs frameshift NM_001408509.1:c.1845_1854delGGTGACCCGA NP_001395438.1:p.Val616Serfs frameshift NM_001408510.1:c.1806_1815delGGTGACCCGA NP_001395439.1:p.Val603Serfs frameshift NM_001408511.1:c.1803_1812delGGTGACCCGA NP_001395440.1:p.Val602Serfs frameshift NM_001408512.1:c.1683_1692delGGTGACCCGA NP_001395441.1:p.Val562Serfs frameshift NM_001408513.1:c.1656_1665delGGTGACCCGA NP_001395442.1:p.Val553Serfs frameshift NM_001408514.1:c.1260_1269delGGTGACCCGA NP_001395443.1:p.Val421Serfs frameshift NM_007294.3:c.5497_5506delGTGACCCGAG frameshift NM_007297.4:c.5356_5365del NP_009228.2:p.Val1786fs frameshift NM_007298.4:c.2184_2193delGGTGACCCGA NP_009229.2:p.Val729Serfs frameshift NM_007299.4:c.*11_*20del 3 prime UTR NM_007300.4:c.5560_5569del NP_009231.2:p.Val1854fs frameshift NM_007304.2:c.2184_2193delGGTGACCCGA NP_009235.2:p.Val729Serfs frameshift NR_027676.2:n.5674_5683del non-coding transcript variant NC_000017.11:g.43045765_43045774del NC_000017.10:g.41197782_41197791del NG_005905.2:g.172211_172220del LRG_292:g.172211_172220del LRG_292t1:c.5496_5505del LRG_292p1:p.Val1833Serfs - Protein change
- V729fs, V1786fs, V1833fs, V1854fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045763:CTCGGGTCACC:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
not provided (1) |
no classification provided
|
- | RCV000577385.9 | |
Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661177.9 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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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
(Dec 15, 2017)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783431.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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not provided
(-)
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no classification provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679633.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
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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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Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. | Han SH | Clinical genetics | 2006 | PMID: 17100994 |
Text-mined citations for rs273902775 ...
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.