ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5496_5499del (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.5496_5499del (p.Val1833fs)
Variation ID: 236274 Accession: VCV000236274.4
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 17q21.31 17: 43045771-43045774 (GRCh38) [ NCBI UCSC ] 17: 41197788-41197791 (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 Jun 25, 2016 Dec 11, 2022 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5496_5499del 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_5286delGGTG NP_001394500.1:p.Val1762Profs frameshift NM_001407581.1:c.5562_5565delGGTG NP_001394510.1:p.Val1855Profs frameshift NM_001407582.1:c.5562_5565delGGTG NP_001394511.1:p.Val1855Profs frameshift NM_001407583.1:c.5559_5562delGGTG NP_001394512.1:p.Val1854Profs frameshift NM_001407585.1:c.5559_5562delGGTG NP_001394514.1:p.Val1854Profs frameshift NM_001407587.1:c.5559_5562delGGTG NP_001394516.1:p.Val1854Profs frameshift NM_001407590.1:c.5556_5559delGGTG NP_001394519.1:p.Val1853Profs frameshift NM_001407591.1:c.5556_5559delGGTG NP_001394520.1:p.Val1853Profs frameshift NM_001407593.1:c.5496_5499delGGTG NP_001394522.1:p.Val1833Profs frameshift NM_001407594.1:c.5496_5499delGGTG NP_001394523.1:p.Val1833Profs frameshift NM_001407596.1:c.5496_5499delGGTG NP_001394525.1:p.Val1833Profs frameshift NM_001407597.1:c.5496_5499delGGTG NP_001394526.1:p.Val1833Profs frameshift NM_001407598.1:c.5496_5499delGGTG NP_001394527.1:p.Val1833Profs frameshift NM_001407602.1:c.5496_5499delGGTG NP_001394531.1:p.Val1833Profs frameshift NM_001407603.1:c.5496_5499delGGTG NP_001394532.1:p.Val1833Profs frameshift NM_001407605.1:c.5496_5499delGGTG NP_001394534.1:p.Val1833Profs frameshift NM_001407610.1:c.5493_5496delGGTG NP_001394539.1:p.Val1832Profs frameshift NM_001407611.1:c.5493_5496delGGTG NP_001394540.1:p.Val1832Profs frameshift NM_001407612.1:c.5493_5496delGGTG NP_001394541.1:p.Val1832Profs frameshift NM_001407613.1:c.5493_5496delGGTG NP_001394542.1:p.Val1832Profs frameshift NM_001407614.1:c.5493_5496delGGTG NP_001394543.1:p.Val1832Profs frameshift NM_001407615.1:c.5493_5496delGGTG NP_001394544.1:p.Val1832Profs frameshift NM_001407616.1:c.5493_5496delGGTG NP_001394545.1:p.Val1832Profs frameshift NM_001407617.1:c.5493_5496delGGTG NP_001394546.1:p.Val1832Profs frameshift NM_001407618.1:c.5493_5496delGGTG NP_001394547.1:p.Val1832Profs frameshift NM_001407619.1:c.5493_5496delGGTG NP_001394548.1:p.Val1832Profs frameshift NM_001407620.1:c.5493_5496delGGTG NP_001394549.1:p.Val1832Profs frameshift NM_001407621.1:c.5493_5496delGGTG NP_001394550.1:p.Val1832Profs frameshift NM_001407622.1:c.5493_5496delGGTG NP_001394551.1:p.Val1832Profs frameshift NM_001407623.1:c.5493_5496delGGTG NP_001394552.1:p.Val1832Profs frameshift NM_001407624.1:c.5493_5496delGGTG NP_001394553.1:p.Val1832Profs frameshift NM_001407625.1:c.5493_5496delGGTG NP_001394554.1:p.Val1832Profs frameshift NM_001407626.1:c.5493_5496delGGTG NP_001394555.1:p.Val1832Profs frameshift NM_001407627.1:c.5490_5493delGGTG NP_001394556.1:p.Val1831Profs frameshift NM_001407628.1:c.5490_5493delGGTG NP_001394557.1:p.Val1831Profs frameshift NM_001407629.1:c.5490_5493delGGTG NP_001394558.1:p.Val1831Profs frameshift NM_001407630.1:c.5490_5493delGGTG NP_001394559.1:p.Val1831Profs frameshift NM_001407631.1:c.5490_5493delGGTG NP_001394560.1:p.Val1831Profs frameshift NM_001407632.1:c.5490_5493delGGTG NP_001394561.1:p.Val1831Profs frameshift NM_001407633.1:c.5490_5493delGGTG NP_001394562.1:p.Val1831Profs frameshift NM_001407634.1:c.5490_5493delGGTG NP_001394563.1:p.Val1831Profs frameshift NM_001407635.1:c.5490_5493delGGTG NP_001394564.1:p.Val1831Profs frameshift NM_001407636.1:c.5490_5493delGGTG NP_001394565.1:p.Val1831Profs frameshift NM_001407637.1:c.5490_5493delGGTG NP_001394566.1:p.Val1831Profs frameshift NM_001407638.1:c.5490_5493delGGTG NP_001394567.1:p.Val1831Profs frameshift NM_001407639.1:c.5490_5493delGGTG NP_001394568.1:p.Val1831Profs frameshift NM_001407640.1:c.5490_5493delGGTG NP_001394569.1:p.Val1831Profs frameshift NM_001407641.1:c.5490_5493delGGTG NP_001394570.1:p.Val1831Profs frameshift NM_001407642.1:c.5490_5493delGGTG NP_001394571.1:p.Val1831Profs frameshift NM_001407644.1:c.5487_5490delGGTG NP_001394573.1:p.Val1830Profs frameshift NM_001407645.1:c.5487_5490delGGTG NP_001394574.1:p.Val1830Profs frameshift NM_001407646.1:c.5484_5487delGGTG NP_001394575.1:p.Val1829Profs frameshift NM_001407647.1:c.5481_5484delGGTG NP_001394576.1:p.Val1828Profs frameshift NM_001407648.1:c.5439_5442delGGTG NP_001394577.1:p.Val1814Profs frameshift NM_001407649.1:c.5436_5439delGGTG NP_001394578.1:p.Val1813Profs frameshift NM_001407652.1:c.5418_5421delGGTG NP_001394581.1:p.Val1807Profs frameshift NM_001407653.1:c.5418_5421delGGTG NP_001394582.1:p.Val1807Profs frameshift NM_001407654.1:c.5418_5421delGGTG NP_001394583.1:p.Val1807Profs frameshift NM_001407655.1:c.5418_5421delGGTG NP_001394584.1:p.Val1807Profs frameshift NM_001407656.1:c.5415_5418delGGTG NP_001394585.1:p.Val1806Profs frameshift NM_001407657.1:c.5415_5418delGGTG NP_001394586.1:p.Val1806Profs frameshift NM_001407658.1:c.5415_5418delGGTG NP_001394587.1:p.Val1806Profs frameshift NM_001407659.1:c.5412_5415delGGTG NP_001394588.1:p.Val1805Profs frameshift NM_001407660.1:c.5412_5415delGGTG NP_001394589.1:p.Val1805Profs frameshift NM_001407661.1:c.5412_5415delGGTG NP_001394590.1:p.Val1805Profs frameshift NM_001407662.1:c.5412_5415delGGTG NP_001394591.1:p.Val1805Profs frameshift NM_001407663.1:c.5412_5415delGGTG NP_001394592.1:p.Val1805Profs frameshift NM_001407664.1:c.5373_5376delGGTG NP_001394593.1:p.Val1792Profs frameshift NM_001407665.1:c.5373_5376delGGTG NP_001394594.1:p.Val1792Profs frameshift NM_001407666.1:c.5373_5376delGGTG NP_001394595.1:p.Val1792Profs frameshift NM_001407667.1:c.5373_5376delGGTG NP_001394596.1:p.Val1792Profs frameshift NM_001407668.1:c.5373_5376delGGTG NP_001394597.1:p.Val1792Profs frameshift NM_001407669.1:c.5373_5376delGGTG NP_001394598.1:p.Val1792Profs frameshift NM_001407670.1:c.5370_5373delGGTG NP_001394599.1:p.Val1791Profs frameshift NM_001407671.1:c.5370_5373delGGTG NP_001394600.1:p.Val1791Profs frameshift NM_001407672.1:c.5370_5373delGGTG NP_001394601.1:p.Val1791Profs frameshift NM_001407673.1:c.5370_5373delGGTG NP_001394602.1:p.Val1791Profs frameshift NM_001407674.1:c.5370_5373delGGTG NP_001394603.1:p.Val1791Profs frameshift NM_001407675.1:c.5370_5373delGGTG NP_001394604.1:p.Val1791Profs frameshift NM_001407676.1:c.5370_5373delGGTG NP_001394605.1:p.Val1791Profs frameshift NM_001407677.1:c.5370_5373delGGTG NP_001394606.1:p.Val1791Profs frameshift NM_001407678.1:c.5370_5373delGGTG NP_001394607.1:p.Val1791Profs frameshift NM_001407679.1:c.5370_5373delGGTG NP_001394608.1:p.Val1791Profs frameshift NM_001407680.1:c.5370_5373delGGTG NP_001394609.1:p.Val1791Profs frameshift NM_001407681.1:c.5367_5370delGGTG NP_001394610.1:p.Val1790Profs frameshift NM_001407682.1:c.5367_5370delGGTG NP_001394611.1:p.Val1790Profs frameshift NM_001407683.1:c.5367_5370delGGTG NP_001394612.1:p.Val1790Profs frameshift NM_001407684.1:c.5367_5370delGGTG NP_001394613.1:p.Val1790Profs frameshift NM_001407685.1:c.5367_5370delGGTG NP_001394614.1:p.Val1790Profs frameshift NM_001407686.1:c.5367_5370delGGTG NP_001394615.1:p.Val1790Profs frameshift NM_001407687.1:c.5367_5370delGGTG NP_001394616.1:p.Val1790Profs frameshift NM_001407688.1:c.5367_5370delGGTG NP_001394617.1:p.Val1790Profs frameshift NM_001407689.1:c.5367_5370delGGTG NP_001394618.1:p.Val1790Profs frameshift NM_001407690.1:c.5364_5367delGGTG NP_001394619.1:p.Val1789Profs frameshift NM_001407691.1:c.5364_5367delGGTG NP_001394620.1:p.Val1789Profs frameshift NM_001407692.1:c.5355_5358delGGTG NP_001394621.1:p.Val1786Profs frameshift NM_001407694.1:c.5355_5358delGGTG NP_001394623.1:p.Val1786Profs frameshift NM_001407695.1:c.5355_5358delGGTG NP_001394624.1:p.Val1786Profs frameshift NM_001407696.1:c.5355_5358delGGTG NP_001394625.1:p.Val1786Profs frameshift NM_001407697.1:c.5355_5358delGGTG NP_001394626.1:p.Val1786Profs frameshift NM_001407698.1:c.5355_5358delGGTG NP_001394627.1:p.Val1786Profs frameshift NM_001407724.1:c.5355_5358delGGTG NP_001394653.1:p.Val1786Profs frameshift NM_001407725.1:c.5355_5358delGGTG NP_001394654.1:p.Val1786Profs frameshift NM_001407726.1:c.5355_5358delGGTG NP_001394655.1:p.Val1786Profs frameshift NM_001407727.1:c.5355_5358delGGTG NP_001394656.1:p.Val1786Profs frameshift NM_001407728.1:c.5355_5358delGGTG NP_001394657.1:p.Val1786Profs frameshift NM_001407729.1:c.5355_5358delGGTG NP_001394658.1:p.Val1786Profs frameshift NM_001407730.1:c.5355_5358delGGTG NP_001394659.1:p.Val1786Profs frameshift NM_001407731.1:c.5355_5358delGGTG NP_001394660.1:p.Val1786Profs frameshift NM_001407732.1:c.5352_5355delGGTG NP_001394661.1:p.Val1785Profs frameshift NM_001407733.1:c.5352_5355delGGTG NP_001394662.1:p.Val1785Profs frameshift NM_001407734.1:c.5352_5355delGGTG NP_001394663.1:p.Val1785Profs frameshift NM_001407735.1:c.5352_5355delGGTG NP_001394664.1:p.Val1785Profs frameshift NM_001407736.1:c.5352_5355delGGTG NP_001394665.1:p.Val1785Profs frameshift NM_001407737.1:c.5352_5355delGGTG NP_001394666.1:p.Val1785Profs frameshift NM_001407738.1:c.5352_5355delGGTG NP_001394667.1:p.Val1785Profs frameshift NM_001407739.1:c.5352_5355delGGTG NP_001394668.1:p.Val1785Profs frameshift NM_001407740.1:c.5352_5355delGGTG NP_001394669.1:p.Val1785Profs frameshift NM_001407741.1:c.5352_5355delGGTG NP_001394670.1:p.Val1785Profs frameshift NM_001407742.1:c.5352_5355delGGTG NP_001394671.1:p.Val1785Profs frameshift NM_001407743.1:c.5352_5355delGGTG NP_001394672.1:p.Val1785Profs frameshift NM_001407744.1:c.5352_5355delGGTG NP_001394673.1:p.Val1785Profs frameshift NM_001407745.1:c.5352_5355delGGTG NP_001394674.1:p.Val1785Profs frameshift NM_001407746.1:c.5352_5355delGGTG NP_001394675.1:p.Val1785Profs frameshift NM_001407747.1:c.5352_5355delGGTG NP_001394676.1:p.Val1785Profs frameshift NM_001407748.1:c.5352_5355delGGTG NP_001394677.1:p.Val1785Profs frameshift NM_001407749.1:c.5352_5355delGGTG NP_001394678.1:p.Val1785Profs frameshift NM_001407750.1:c.5352_5355delGGTG NP_001394679.1:p.Val1785Profs frameshift NM_001407751.1:c.5352_5355delGGTG NP_001394680.1:p.Val1785Profs frameshift NM_001407752.1:c.5352_5355delGGTG NP_001394681.1:p.Val1785Profs frameshift NM_001407838.1:c.5349_5352delGGTG NP_001394767.1:p.Val1784Profs frameshift NM_001407839.1:c.5349_5352delGGTG NP_001394768.1:p.Val1784Profs frameshift NM_001407841.1:c.5349_5352delGGTG NP_001394770.1:p.Val1784Profs frameshift NM_001407842.1:c.5349_5352delGGTG NP_001394771.1:p.Val1784Profs frameshift NM_001407843.1:c.5349_5352delGGTG NP_001394772.1:p.Val1784Profs frameshift NM_001407844.1:c.5349_5352delGGTG NP_001394773.1:p.Val1784Profs frameshift NM_001407845.1:c.5349_5352delGGTG NP_001394774.1:p.Val1784Profs frameshift NM_001407846.1:c.5349_5352delGGTG NP_001394775.1:p.Val1784Profs frameshift NM_001407847.1:c.5349_5352delGGTG NP_001394776.1:p.Val1784Profs frameshift NM_001407848.1:c.5349_5352delGGTG NP_001394777.1:p.Val1784Profs frameshift NM_001407849.1:c.5349_5352delGGTG NP_001394778.1:p.Val1784Profs frameshift NM_001407850.1:c.5349_5352delGGTG NP_001394779.1:p.Val1784Profs frameshift NM_001407851.1:c.5349_5352delGGTG NP_001394780.1:p.Val1784Profs frameshift NM_001407852.1:c.5349_5352delGGTG NP_001394781.1:p.Val1784Profs frameshift NM_001407853.1:c.5349_5352delGGTG NP_001394782.1:p.Val1784Profs frameshift NM_001407854.1:c.*10_*13delGGTG NM_001407858.1:c.*10_*13delGGTG NM_001407859.1:c.*10_*13delGGTG NM_001407860.1:c.*10_*13delGGTG NM_001407861.1:c.*10_*13delGGTG NM_001407862.1:c.5295_5298delGGTG NP_001394791.1:p.Val1766Profs frameshift NM_001407863.1:c.5292_5295delGGTG NP_001394792.1:p.Val1765Profs frameshift NM_001407874.1:c.5289_5292delGGTG NP_001394803.1:p.Val1764Profs frameshift NM_001407875.1:c.5289_5292delGGTG NP_001394804.1:p.Val1764Profs frameshift NM_001407879.1:c.5286_5289delGGTG NP_001394808.1:p.Val1763Profs frameshift NM_001407881.1:c.5286_5289delGGTG NP_001394810.1:p.Val1763Profs frameshift NM_001407882.1:c.5286_5289delGGTG NP_001394811.1:p.Val1763Profs frameshift NM_001407884.1:c.5286_5289delGGTG NP_001394813.1:p.Val1763Profs frameshift NM_001407885.1:c.5286_5289delGGTG NP_001394814.1:p.Val1763Profs frameshift NM_001407886.1:c.5286_5289delGGTG NP_001394815.1:p.Val1763Profs frameshift NM_001407887.1:c.5286_5289delGGTG NP_001394816.1:p.Val1763Profs frameshift NM_001407889.1:c.5286_5289delGGTG NP_001394818.1:p.Val1763Profs frameshift NM_001407894.1:c.5283_5286delGGTG NP_001394823.1:p.Val1762Profs frameshift NM_001407895.1:c.5283_5286delGGTG NP_001394824.1:p.Val1762Profs frameshift NM_001407896.1:c.5283_5286delGGTG NP_001394825.1:p.Val1762Profs frameshift NM_001407897.1:c.5283_5286delGGTG NP_001394826.1:p.Val1762Profs frameshift NM_001407898.1:c.5283_5286delGGTG NP_001394827.1:p.Val1762Profs frameshift NM_001407899.1:c.5283_5286delGGTG NP_001394828.1:p.Val1762Profs frameshift NM_001407900.1:c.5283_5286delGGTG NP_001394829.1:p.Val1762Profs frameshift NM_001407902.1:c.5283_5286delGGTG NP_001394831.1:p.Val1762Profs frameshift NM_001407904.1:c.5283_5286delGGTG NP_001394833.1:p.Val1762Profs frameshift NM_001407906.1:c.5283_5286delGGTG NP_001394835.1:p.Val1762Profs frameshift NM_001407907.1:c.5283_5286delGGTG NP_001394836.1:p.Val1762Profs frameshift NM_001407908.1:c.5283_5286delGGTG NP_001394837.1:p.Val1762Profs frameshift NM_001407909.1:c.5283_5286delGGTG NP_001394838.1:p.Val1762Profs frameshift NM_001407910.1:c.5283_5286delGGTG NP_001394839.1:p.Val1762Profs frameshift NM_001407915.1:c.5280_5283delGGTG NP_001394844.1:p.Val1761Profs frameshift NM_001407916.1:c.5280_5283delGGTG NP_001394845.1:p.Val1761Profs frameshift NM_001407917.1:c.5280_5283delGGTG NP_001394846.1:p.Val1761Profs frameshift NM_001407918.1:c.5280_5283delGGTG NP_001394847.1:p.Val1761Profs frameshift NM_001407919.1:c.5244_5247delGGTG NP_001394848.1:p.Val1749Profs frameshift NM_001407920.1:c.5232_5235delGGTG NP_001394849.1:p.Val1745Profs frameshift NM_001407921.1:c.5232_5235delGGTG NP_001394850.1:p.Val1745Profs frameshift NM_001407922.1:c.5232_5235delGGTG NP_001394851.1:p.Val1745Profs frameshift NM_001407923.1:c.5232_5235delGGTG NP_001394852.1:p.Val1745Profs frameshift NM_001407924.1:c.5232_5235delGGTG NP_001394853.1:p.Val1745Profs frameshift NM_001407925.1:c.5232_5235delGGTG NP_001394854.1:p.Val1745Profs frameshift NM_001407926.1:c.5232_5235delGGTG NP_001394855.1:p.Val1745Profs frameshift NM_001407927.1:c.5229_5232delGGTG NP_001394856.1:p.Val1744Profs frameshift NM_001407928.1:c.5229_5232delGGTG NP_001394857.1:p.Val1744Profs frameshift NM_001407929.1:c.5229_5232delGGTG NP_001394858.1:p.Val1744Profs frameshift NM_001407930.1:c.5229_5232delGGTG NP_001394859.1:p.Val1744Profs frameshift NM_001407931.1:c.5229_5232delGGTG NP_001394860.1:p.Val1744Profs frameshift NM_001407932.1:c.5229_5232delGGTG NP_001394861.1:p.Val1744Profs frameshift NM_001407933.1:c.5229_5232delGGTG NP_001394862.1:p.Val1744Profs frameshift NM_001407934.1:c.5226_5229delGGTG NP_001394863.1:p.Val1743Profs frameshift NM_001407935.1:c.5226_5229delGGTG NP_001394864.1:p.Val1743Profs frameshift NM_001407936.1:c.5226_5229delGGTG NP_001394865.1:p.Val1743Profs frameshift NM_001407937.1:c.*10_*13delGGTG NM_001407938.1:c.*10_*13delGGTG NM_001407939.1:c.*10_*13delGGTG NM_001407940.1:c.*10_*13delGGTG NM_001407941.1:c.*10_*13delGGTG NM_001407942.1:c.*10_*13delGGTG NM_001407943.1:c.*10_*13delGGTG NM_001407944.1:c.*10_*13delGGTG NM_001407945.1:c.*10_*13delGGTG NM_001407946.1:c.5163_5166delGGTG NP_001394875.1:p.Val1722Profs frameshift NM_001407947.1:c.5163_5166delGGTG NP_001394876.1:p.Val1722Profs frameshift NM_001407948.1:c.5163_5166delGGTG NP_001394877.1:p.Val1722Profs frameshift NM_001407949.1:c.5163_5166delGGTG NP_001394878.1:p.Val1722Profs frameshift NM_001407950.1:c.5160_5163delGGTG NP_001394879.1:p.Val1721Profs frameshift NM_001407951.1:c.5160_5163delGGTG NP_001394880.1:p.Val1721Profs frameshift NM_001407952.1:c.5160_5163delGGTG NP_001394881.1:p.Val1721Profs frameshift NM_001407953.1:c.5160_5163delGGTG NP_001394882.1:p.Val1721Profs frameshift NM_001407954.1:c.5160_5163delGGTG NP_001394883.1:p.Val1721Profs frameshift NM_001407955.1:c.5160_5163delGGTG NP_001394884.1:p.Val1721Profs frameshift NM_001407956.1:c.5157_5160delGGTG NP_001394885.1:p.Val1720Profs frameshift NM_001407957.1:c.5157_5160delGGTG NP_001394886.1:p.Val1720Profs frameshift NM_001407958.1:c.5157_5160delGGTG NP_001394887.1:p.Val1720Profs frameshift NM_001407959.1:c.5115_5118delGGTG NP_001394888.1:p.Val1706Profs frameshift NM_001407960.1:c.5112_5115delGGTG NP_001394889.1:p.Val1705Profs frameshift NM_001407962.1:c.5112_5115delGGTG NP_001394891.1:p.Val1705Profs frameshift NM_001407963.1:c.5109_5112delGGTG NP_001394892.1:p.Val1704Profs frameshift NM_001407964.1:c.5034_5037delGGTG NP_001394893.1:p.Val1679Profs frameshift NM_001407965.1:c.4989_4992delGGTG NP_001394894.1:p.Val1664Profs frameshift NM_001407966.1:c.4608_4611delGGTG NP_001394895.1:p.Val1537Profs frameshift NM_001407967.1:c.4605_4608delGGTG NP_001394896.1:p.Val1536Profs frameshift NM_001407968.1:c.2892_2895delGGTG NP_001394897.1:p.Val965Profs frameshift NM_001407969.1:c.2889_2892delGGTG NP_001394898.1:p.Val964Profs frameshift NM_001407970.1:c.2253_2256delGGTG NP_001394899.1:p.Val752Profs frameshift NM_001407971.1:c.2253_2256delGGTG NP_001394900.1:p.Val752Profs frameshift NM_001407972.1:c.2250_2253delGGTG NP_001394901.1:p.Val751Profs frameshift NM_001407973.1:c.2187_2190delGGTG NP_001394902.1:p.Val730Profs frameshift NM_001407974.1:c.2187_2190delGGTG NP_001394903.1:p.Val730Profs frameshift NM_001407975.1:c.2187_2190delGGTG NP_001394904.1:p.Val730Profs frameshift NM_001407976.1:c.2187_2190delGGTG NP_001394905.1:p.Val730Profs frameshift NM_001407977.1:c.2187_2190delGGTG NP_001394906.1:p.Val730Profs frameshift NM_001407978.1:c.2187_2190delGGTG NP_001394907.1:p.Val730Profs frameshift NM_001407979.1:c.2184_2187delGGTG NP_001394908.1:p.Val729Profs frameshift NM_001407980.1:c.2184_2187delGGTG NP_001394909.1:p.Val729Profs frameshift NM_001407981.1:c.2184_2187delGGTG NP_001394910.1:p.Val729Profs frameshift NM_001407982.1:c.2184_2187delGGTG NP_001394911.1:p.Val729Profs frameshift NM_001407983.1:c.2184_2187delGGTG NP_001394912.1:p.Val729Profs frameshift NM_001407984.1:c.2184_2187delGGTG NP_001394913.1:p.Val729Profs frameshift NM_001407985.1:c.2184_2187delGGTG NP_001394914.1:p.Val729Profs frameshift NM_001407986.1:c.2184_2187delGGTG NP_001394915.1:p.Val729Profs frameshift NM_001407990.1:c.2184_2187delGGTG NP_001394919.1:p.Val729Profs frameshift NM_001407991.1:c.2184_2187delGGTG NP_001394920.1:p.Val729Profs frameshift NM_001407992.1:c.2184_2187delGGTG NP_001394921.1:p.Val729Profs frameshift NM_001407993.1:c.2184_2187delGGTG NP_001394922.1:p.Val729Profs frameshift NM_001408392.1:c.2181_2184delGGTG NP_001395321.1:p.Val728Profs frameshift NM_001408396.1:c.2181_2184delGGTG NP_001395325.1:p.Val728Profs frameshift NM_001408397.1:c.2181_2184delGGTG NP_001395326.1:p.Val728Profs frameshift NM_001408398.1:c.2181_2184delGGTG NP_001395327.1:p.Val728Profs frameshift NM_001408399.1:c.2181_2184delGGTG NP_001395328.1:p.Val728Profs frameshift NM_001408400.1:c.2181_2184delGGTG NP_001395329.1:p.Val728Profs frameshift NM_001408401.1:c.2181_2184delGGTG NP_001395330.1:p.Val728Profs frameshift NM_001408402.1:c.2181_2184delGGTG NP_001395331.1:p.Val728Profs frameshift NM_001408403.1:c.2181_2184delGGTG NP_001395332.1:p.Val728Profs frameshift NM_001408404.1:c.2181_2184delGGTG NP_001395333.1:p.Val728Profs frameshift NM_001408406.1:c.2178_2181delGGTG NP_001395335.1:p.Val727Profs frameshift NM_001408407.1:c.2178_2181delGGTG NP_001395336.1:p.Val727Profs frameshift NM_001408408.1:c.2178_2181delGGTG NP_001395337.1:p.Val727Profs frameshift NM_001408409.1:c.2175_2178delGGTG NP_001395338.1:p.Val726Profs frameshift NM_001408410.1:c.2112_2115delGGTG NP_001395339.1:p.Val705Profs frameshift NM_001408411.1:c.2109_2112delGGTG NP_001395340.1:p.Val704Profs frameshift NM_001408412.1:c.2106_2109delGGTG NP_001395341.1:p.Val703Profs frameshift NM_001408413.1:c.2106_2109delGGTG NP_001395342.1:p.Val703Profs frameshift NM_001408414.1:c.2106_2109delGGTG NP_001395343.1:p.Val703Profs frameshift NM_001408415.1:c.2106_2109delGGTG NP_001395344.1:p.Val703Profs frameshift NM_001408416.1:c.2106_2109delGGTG NP_001395345.1:p.Val703Profs frameshift NM_001408418.1:c.2070_2073delGGTG NP_001395347.1:p.Val691Profs frameshift NM_001408419.1:c.2070_2073delGGTG NP_001395348.1:p.Val691Profs frameshift NM_001408420.1:c.2070_2073delGGTG NP_001395349.1:p.Val691Profs frameshift NM_001408421.1:c.2067_2070delGGTG NP_001395350.1:p.Val690Profs frameshift NM_001408422.1:c.2067_2070delGGTG NP_001395351.1:p.Val690Profs frameshift NM_001408423.1:c.2067_2070delGGTG NP_001395352.1:p.Val690Profs frameshift NM_001408424.1:c.2067_2070delGGTG NP_001395353.1:p.Val690Profs frameshift NM_001408425.1:c.2064_2067delGGTG NP_001395354.1:p.Val689Profs frameshift NM_001408426.1:c.2064_2067delGGTG NP_001395355.1:p.Val689Profs frameshift NM_001408427.1:c.2064_2067delGGTG NP_001395356.1:p.Val689Profs frameshift NM_001408428.1:c.2064_2067delGGTG NP_001395357.1:p.Val689Profs frameshift NM_001408429.1:c.2064_2067delGGTG NP_001395358.1:p.Val689Profs frameshift NM_001408430.1:c.2064_2067delGGTG NP_001395359.1:p.Val689Profs frameshift NM_001408431.1:c.2064_2067delGGTG NP_001395360.1:p.Val689Profs frameshift NM_001408432.1:c.2061_2064delGGTG NP_001395361.1:p.Val688Profs frameshift NM_001408433.1:c.2061_2064delGGTG NP_001395362.1:p.Val688Profs frameshift NM_001408434.1:c.2061_2064delGGTG NP_001395363.1:p.Val688Profs frameshift NM_001408435.1:c.2061_2064delGGTG NP_001395364.1:p.Val688Profs frameshift NM_001408436.1:c.2061_2064delGGTG NP_001395365.1:p.Val688Profs frameshift NM_001408437.1:c.2061_2064delGGTG NP_001395366.1:p.Val688Profs frameshift NM_001408438.1:c.2061_2064delGGTG NP_001395367.1:p.Val688Profs frameshift NM_001408439.1:c.2061_2064delGGTG NP_001395368.1:p.Val688Profs frameshift NM_001408440.1:c.2061_2064delGGTG NP_001395369.1:p.Val688Profs frameshift NM_001408441.1:c.2061_2064delGGTG NP_001395370.1:p.Val688Profs frameshift NM_001408442.1:c.2061_2064delGGTG NP_001395371.1:p.Val688Profs frameshift NM_001408443.1:c.2061_2064delGGTG NP_001395372.1:p.Val688Profs frameshift NM_001408444.1:c.2061_2064delGGTG NP_001395373.1:p.Val688Profs frameshift NM_001408445.1:c.2058_2061delGGTG NP_001395374.1:p.Val687Profs frameshift NM_001408446.1:c.2058_2061delGGTG NP_001395375.1:p.Val687Profs frameshift NM_001408447.1:c.2058_2061delGGTG NP_001395376.1:p.Val687Profs frameshift NM_001408448.1:c.2058_2061delGGTG NP_001395377.1:p.Val687Profs frameshift NM_001408450.1:c.2058_2061delGGTG NP_001395379.1:p.Val687Profs frameshift NM_001408451.1:c.2052_2055delGGTG NP_001395380.1:p.Val685Profs frameshift NM_001408452.1:c.2046_2049delGGTG NP_001395381.1:p.Val683Profs frameshift NM_001408453.1:c.2046_2049delGGTG NP_001395382.1:p.Val683Profs frameshift NM_001408454.1:c.2046_2049delGGTG NP_001395383.1:p.Val683Profs frameshift NM_001408455.1:c.2046_2049delGGTG NP_001395384.1:p.Val683Profs frameshift NM_001408456.1:c.2046_2049delGGTG NP_001395385.1:p.Val683Profs frameshift NM_001408457.1:c.2046_2049delGGTG NP_001395386.1:p.Val683Profs frameshift NM_001408458.1:c.2043_2046delGGTG NP_001395387.1:p.Val682Profs frameshift NM_001408459.1:c.2043_2046delGGTG NP_001395388.1:p.Val682Profs frameshift NM_001408460.1:c.2043_2046delGGTG NP_001395389.1:p.Val682Profs frameshift NM_001408461.1:c.2043_2046delGGTG NP_001395390.1:p.Val682Profs frameshift NM_001408462.1:c.2043_2046delGGTG NP_001395391.1:p.Val682Profs frameshift NM_001408463.1:c.2043_2046delGGTG NP_001395392.1:p.Val682Profs frameshift NM_001408464.1:c.2043_2046delGGTG NP_001395393.1:p.Val682Profs frameshift NM_001408465.1:c.2043_2046delGGTG NP_001395394.1:p.Val682Profs frameshift NM_001408466.1:c.2043_2046delGGTG NP_001395395.1:p.Val682Profs frameshift NM_001408467.1:c.2043_2046delGGTG NP_001395396.1:p.Val682Profs frameshift NM_001408468.1:c.2040_2043delGGTG NP_001395397.1:p.Val681Profs frameshift NM_001408469.1:c.2040_2043delGGTG NP_001395398.1:p.Val681Profs frameshift NM_001408470.1:c.2040_2043delGGTG NP_001395399.1:p.Val681Profs frameshift NM_001408472.1:c.*10_*13delGGTG NM_001408473.1:c.*10_*13delGGTG NM_001408474.1:c.1986_1989delGGTG NP_001395403.1:p.Val663Profs frameshift NM_001408475.1:c.1983_1986delGGTG NP_001395404.1:p.Val662Profs frameshift NM_001408476.1:c.1983_1986delGGTG NP_001395405.1:p.Val662Profs frameshift NM_001408478.1:c.1977_1980delGGTG NP_001395407.1:p.Val660Profs frameshift NM_001408479.1:c.1977_1980delGGTG NP_001395408.1:p.Val660Profs frameshift NM_001408480.1:c.1977_1980delGGTG NP_001395409.1:p.Val660Profs frameshift NM_001408481.1:c.1974_1977delGGTG NP_001395410.1:p.Val659Profs frameshift NM_001408482.1:c.1974_1977delGGTG NP_001395411.1:p.Val659Profs frameshift NM_001408483.1:c.1974_1977delGGTG NP_001395412.1:p.Val659Profs frameshift NM_001408484.1:c.1974_1977delGGTG NP_001395413.1:p.Val659Profs frameshift NM_001408485.1:c.1974_1977delGGTG NP_001395414.1:p.Val659Profs frameshift NM_001408489.1:c.1974_1977delGGTG NP_001395418.1:p.Val659Profs frameshift NM_001408490.1:c.1974_1977delGGTG NP_001395419.1:p.Val659Profs frameshift NM_001408491.1:c.1974_1977delGGTG NP_001395420.1:p.Val659Profs frameshift NM_001408492.1:c.1971_1974delGGTG NP_001395421.1:p.Val658Profs frameshift NM_001408493.1:c.1971_1974delGGTG NP_001395422.1:p.Val658Profs frameshift NM_001408494.1:c.1947_1950delGGTG NP_001395423.1:p.Val650Profs frameshift NM_001408495.1:c.1941_1944delGGTG NP_001395424.1:p.Val648Profs frameshift NM_001408496.1:c.1923_1926delGGTG NP_001395425.1:p.Val642Profs frameshift NM_001408497.1:c.1923_1926delGGTG NP_001395426.1:p.Val642Profs frameshift NM_001408498.1:c.1923_1926delGGTG NP_001395427.1:p.Val642Profs frameshift NM_001408499.1:c.1923_1926delGGTG NP_001395428.1:p.Val642Profs frameshift NM_001408500.1:c.1923_1926delGGTG NP_001395429.1:p.Val642Profs frameshift NM_001408501.1:c.1923_1926delGGTG NP_001395430.1:p.Val642Profs frameshift NM_001408502.1:c.1920_1923delGGTG NP_001395431.1:p.Val641Profs frameshift NM_001408503.1:c.1920_1923delGGTG NP_001395432.1:p.Val641Profs frameshift NM_001408504.1:c.1920_1923delGGTG NP_001395433.1:p.Val641Profs frameshift NM_001408505.1:c.1917_1920delGGTG NP_001395434.1:p.Val640Profs frameshift NM_001408506.1:c.1860_1863delGGTG NP_001395435.1:p.Val621Profs frameshift NM_001408507.1:c.1857_1860delGGTG NP_001395436.1:p.Val620Profs frameshift NM_001408508.1:c.1848_1851delGGTG NP_001395437.1:p.Val617Profs frameshift NM_001408509.1:c.1845_1848delGGTG NP_001395438.1:p.Val616Profs frameshift NM_001408510.1:c.1806_1809delGGTG NP_001395439.1:p.Val603Profs frameshift NM_001408511.1:c.1803_1806delGGTG NP_001395440.1:p.Val602Profs frameshift NM_001408512.1:c.1683_1686delGGTG NP_001395441.1:p.Val562Profs frameshift NM_001408513.1:c.1656_1659delGGTG NP_001395442.1:p.Val553Profs frameshift NM_001408514.1:c.1260_1263delGGTG NP_001395443.1:p.Val421Profs frameshift NM_007297.4:c.5355_5358del NP_009228.2:p.Val1786fs frameshift NM_007298.4:c.2184_2187delGGTG NP_009229.2:p.Val729Profs frameshift NM_007299.4:c.*10_*13del 3 prime UTR NM_007300.4:c.5559_5562del NP_009231.2:p.Val1854fs frameshift NM_007304.2:c.2184_2187delGGTG NP_009235.2:p.Val729Profs frameshift NR_027676.2:n.5673_5676del non-coding transcript variant NC_000017.11:g.43045771_43045774del NC_000017.10:g.41197788_41197791del NG_005905.2:g.172210_172213del LRG_292:g.172210_172213del LRG_292t1:c.5496_5499del LRG_292p1:p.Val1833Profs - Protein change
- V1854fs, V729fs, V1833fs, V1786fs
- Other names
- 5615_5618delGGTG
- Canonical SPDI
- NC_000017.11:43045770:CACC:
-
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 |
12795 | 14565 |
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 (2) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000225437.5 |
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
(Apr 22, 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: SCV000282343.1
First in ClinVar: Jun 25, 2016 Last updated: Jun 25, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326339.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs878853296 ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.