ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5509_5510del (p.Trp1837fs)
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
-
NM_007294.4(BRCA1):c.5509_5510del (p.Trp1837fs)
Variation ID: 431281 Accession: VCV000431281.2
- Type and length
-
Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43045760-43045761 (GRCh38) [ NCBI UCSC ] 17: 41197777-41197778 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Aug 7, 2017 Jul 13, 2018 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5509_5510del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Trp1837fs frameshift NM_001407571.1:c.5295_5296delGT NP_001394500.1:p.Trp1766Glyfs frameshift NM_001407581.1:c.5574_5575delGT NP_001394510.1:p.Trp1859Glyfs frameshift NM_001407582.1:c.5574_5575delGT NP_001394511.1:p.Trp1859Glyfs frameshift NM_001407583.1:c.5571_5572delGT NP_001394512.1:p.Trp1858Glyfs frameshift NM_001407585.1:c.5571_5572delGT NP_001394514.1:p.Trp1858Glyfs frameshift NM_001407587.1:c.5571_5572delGT NP_001394516.1:p.Trp1858Glyfs frameshift NM_001407590.1:c.5568_5569delGT NP_001394519.1:p.Trp1857Glyfs frameshift NM_001407591.1:c.5568_5569delGT NP_001394520.1:p.Trp1857Glyfs frameshift NM_001407593.1:c.5508_5509delGT NP_001394522.1:p.Trp1837Glyfs frameshift NM_001407594.1:c.5508_5509delGT NP_001394523.1:p.Trp1837Glyfs frameshift NM_001407596.1:c.5508_5509delGT NP_001394525.1:p.Trp1837Glyfs frameshift NM_001407597.1:c.5508_5509delGT NP_001394526.1:p.Trp1837Glyfs frameshift NM_001407598.1:c.5508_5509delGT NP_001394527.1:p.Trp1837Glyfs frameshift NM_001407602.1:c.5508_5509delGT NP_001394531.1:p.Trp1837Glyfs frameshift NM_001407603.1:c.5508_5509delGT NP_001394532.1:p.Trp1837Glyfs frameshift NM_001407605.1:c.5508_5509delGT NP_001394534.1:p.Trp1837Glyfs frameshift NM_001407610.1:c.5505_5506delGT NP_001394539.1:p.Trp1836Glyfs frameshift NM_001407611.1:c.5505_5506delGT NP_001394540.1:p.Trp1836Glyfs frameshift NM_001407612.1:c.5505_5506delGT NP_001394541.1:p.Trp1836Glyfs frameshift NM_001407613.1:c.5505_5506delGT NP_001394542.1:p.Trp1836Glyfs frameshift NM_001407614.1:c.5505_5506delGT NP_001394543.1:p.Trp1836Glyfs frameshift NM_001407615.1:c.5505_5506delGT NP_001394544.1:p.Trp1836Glyfs frameshift NM_001407616.1:c.5505_5506delGT NP_001394545.1:p.Trp1836Glyfs frameshift NM_001407617.1:c.5505_5506delGT NP_001394546.1:p.Trp1836Glyfs frameshift NM_001407618.1:c.5505_5506delGT NP_001394547.1:p.Trp1836Glyfs frameshift NM_001407619.1:c.5505_5506delGT NP_001394548.1:p.Trp1836Glyfs frameshift NM_001407620.1:c.5505_5506delGT NP_001394549.1:p.Trp1836Glyfs frameshift NM_001407621.1:c.5505_5506delGT NP_001394550.1:p.Trp1836Glyfs frameshift NM_001407622.1:c.5505_5506delGT NP_001394551.1:p.Trp1836Glyfs frameshift NM_001407623.1:c.5505_5506delGT NP_001394552.1:p.Trp1836Glyfs frameshift NM_001407624.1:c.5505_5506delGT NP_001394553.1:p.Trp1836Glyfs frameshift NM_001407625.1:c.5505_5506delGT NP_001394554.1:p.Trp1836Glyfs frameshift NM_001407626.1:c.5505_5506delGT NP_001394555.1:p.Trp1836Glyfs frameshift NM_001407627.1:c.5502_5503delGT NP_001394556.1:p.Trp1835Glyfs frameshift NM_001407628.1:c.5502_5503delGT NP_001394557.1:p.Trp1835Glyfs frameshift NM_001407629.1:c.5502_5503delGT NP_001394558.1:p.Trp1835Glyfs frameshift NM_001407630.1:c.5502_5503delGT NP_001394559.1:p.Trp1835Glyfs frameshift NM_001407631.1:c.5502_5503delGT NP_001394560.1:p.Trp1835Glyfs frameshift NM_001407632.1:c.5502_5503delGT NP_001394561.1:p.Trp1835Glyfs frameshift NM_001407633.1:c.5502_5503delGT NP_001394562.1:p.Trp1835Glyfs frameshift NM_001407634.1:c.5502_5503delGT NP_001394563.1:p.Trp1835Glyfs frameshift NM_001407635.1:c.5502_5503delGT NP_001394564.1:p.Trp1835Glyfs frameshift NM_001407636.1:c.5502_5503delGT NP_001394565.1:p.Trp1835Glyfs frameshift NM_001407637.1:c.5502_5503delGT NP_001394566.1:p.Trp1835Glyfs frameshift NM_001407638.1:c.5502_5503delGT NP_001394567.1:p.Trp1835Glyfs frameshift NM_001407639.1:c.5502_5503delGT NP_001394568.1:p.Trp1835Glyfs frameshift NM_001407640.1:c.5502_5503delGT NP_001394569.1:p.Trp1835Glyfs frameshift NM_001407641.1:c.5502_5503delGT NP_001394570.1:p.Trp1835Glyfs frameshift NM_001407642.1:c.5502_5503delGT NP_001394571.1:p.Trp1835Glyfs frameshift NM_001407644.1:c.5499_5500delGT NP_001394573.1:p.Trp1834Glyfs frameshift NM_001407645.1:c.5499_5500delGT NP_001394574.1:p.Trp1834Glyfs frameshift NM_001407646.1:c.5496_5497delGT NP_001394575.1:p.Trp1833Glyfs frameshift NM_001407647.1:c.5493_5494delGT NP_001394576.1:p.Trp1832Glyfs frameshift NM_001407648.1:c.5451_5452delGT NP_001394577.1:p.Trp1818Glyfs frameshift NM_001407649.1:c.5448_5449delGT NP_001394578.1:p.Trp1817Glyfs frameshift NM_001407652.1:c.5430_5431delGT NP_001394581.1:p.Trp1811Glyfs frameshift NM_001407653.1:c.5430_5431delGT NP_001394582.1:p.Trp1811Glyfs frameshift NM_001407654.1:c.5430_5431delGT NP_001394583.1:p.Trp1811Glyfs frameshift NM_001407655.1:c.5430_5431delGT NP_001394584.1:p.Trp1811Glyfs frameshift NM_001407656.1:c.5427_5428delGT NP_001394585.1:p.Trp1810Glyfs frameshift NM_001407657.1:c.5427_5428delGT NP_001394586.1:p.Trp1810Glyfs frameshift NM_001407658.1:c.5427_5428delGT NP_001394587.1:p.Trp1810Glyfs frameshift NM_001407659.1:c.5424_5425delGT NP_001394588.1:p.Trp1809Glyfs frameshift NM_001407660.1:c.5424_5425delGT NP_001394589.1:p.Trp1809Glyfs frameshift NM_001407661.1:c.5424_5425delGT NP_001394590.1:p.Trp1809Glyfs frameshift NM_001407662.1:c.5424_5425delGT NP_001394591.1:p.Trp1809Glyfs frameshift NM_001407663.1:c.5424_5425delGT NP_001394592.1:p.Trp1809Glyfs frameshift NM_001407664.1:c.5385_5386delGT NP_001394593.1:p.Trp1796Glyfs frameshift NM_001407665.1:c.5385_5386delGT NP_001394594.1:p.Trp1796Glyfs frameshift NM_001407666.1:c.5385_5386delGT NP_001394595.1:p.Trp1796Glyfs frameshift NM_001407667.1:c.5385_5386delGT NP_001394596.1:p.Trp1796Glyfs frameshift NM_001407668.1:c.5385_5386delGT NP_001394597.1:p.Trp1796Glyfs frameshift NM_001407669.1:c.5385_5386delGT NP_001394598.1:p.Trp1796Glyfs frameshift NM_001407670.1:c.5382_5383delGT NP_001394599.1:p.Trp1795Glyfs frameshift NM_001407671.1:c.5382_5383delGT NP_001394600.1:p.Trp1795Glyfs frameshift NM_001407672.1:c.5382_5383delGT NP_001394601.1:p.Trp1795Glyfs frameshift NM_001407673.1:c.5382_5383delGT NP_001394602.1:p.Trp1795Glyfs frameshift NM_001407674.1:c.5382_5383delGT NP_001394603.1:p.Trp1795Glyfs frameshift NM_001407675.1:c.5382_5383delGT NP_001394604.1:p.Trp1795Glyfs frameshift NM_001407676.1:c.5382_5383delGT NP_001394605.1:p.Trp1795Glyfs frameshift NM_001407677.1:c.5382_5383delGT NP_001394606.1:p.Trp1795Glyfs frameshift NM_001407678.1:c.5382_5383delGT NP_001394607.1:p.Trp1795Glyfs frameshift NM_001407679.1:c.5382_5383delGT NP_001394608.1:p.Trp1795Glyfs frameshift NM_001407680.1:c.5382_5383delGT NP_001394609.1:p.Trp1795Glyfs frameshift NM_001407681.1:c.5379_5380delGT NP_001394610.1:p.Trp1794Glyfs frameshift NM_001407682.1:c.5379_5380delGT NP_001394611.1:p.Trp1794Glyfs frameshift NM_001407683.1:c.5379_5380delGT NP_001394612.1:p.Trp1794Glyfs frameshift NM_001407684.1:c.5379_5380delGT NP_001394613.1:p.Trp1794Glyfs frameshift NM_001407685.1:c.5379_5380delGT NP_001394614.1:p.Trp1794Glyfs frameshift NM_001407686.1:c.5379_5380delGT NP_001394615.1:p.Trp1794Glyfs frameshift NM_001407687.1:c.5379_5380delGT NP_001394616.1:p.Trp1794Glyfs frameshift NM_001407688.1:c.5379_5380delGT NP_001394617.1:p.Trp1794Glyfs frameshift NM_001407689.1:c.5379_5380delGT NP_001394618.1:p.Trp1794Glyfs frameshift NM_001407690.1:c.5376_5377delGT NP_001394619.1:p.Trp1793Glyfs frameshift NM_001407691.1:c.5376_5377delGT NP_001394620.1:p.Trp1793Glyfs frameshift NM_001407692.1:c.5367_5368delGT NP_001394621.1:p.Trp1790Glyfs frameshift NM_001407694.1:c.5367_5368delGT NP_001394623.1:p.Trp1790Glyfs frameshift NM_001407695.1:c.5367_5368delGT NP_001394624.1:p.Trp1790Glyfs frameshift NM_001407696.1:c.5367_5368delGT NP_001394625.1:p.Trp1790Glyfs frameshift NM_001407697.1:c.5367_5368delGT NP_001394626.1:p.Trp1790Glyfs frameshift NM_001407698.1:c.5367_5368delGT NP_001394627.1:p.Trp1790Glyfs frameshift NM_001407724.1:c.5367_5368delGT NP_001394653.1:p.Trp1790Glyfs frameshift NM_001407725.1:c.5367_5368delGT NP_001394654.1:p.Trp1790Glyfs frameshift NM_001407726.1:c.5367_5368delGT NP_001394655.1:p.Trp1790Glyfs frameshift NM_001407727.1:c.5367_5368delGT NP_001394656.1:p.Trp1790Glyfs frameshift NM_001407728.1:c.5367_5368delGT NP_001394657.1:p.Trp1790Glyfs frameshift NM_001407729.1:c.5367_5368delGT NP_001394658.1:p.Trp1790Glyfs frameshift NM_001407730.1:c.5367_5368delGT NP_001394659.1:p.Trp1790Glyfs frameshift NM_001407731.1:c.5367_5368delGT NP_001394660.1:p.Trp1790Glyfs frameshift NM_001407732.1:c.5364_5365delGT NP_001394661.1:p.Trp1789Glyfs frameshift NM_001407733.1:c.5364_5365delGT NP_001394662.1:p.Trp1789Glyfs frameshift NM_001407734.1:c.5364_5365delGT NP_001394663.1:p.Trp1789Glyfs frameshift NM_001407735.1:c.5364_5365delGT NP_001394664.1:p.Trp1789Glyfs frameshift NM_001407736.1:c.5364_5365delGT NP_001394665.1:p.Trp1789Glyfs frameshift NM_001407737.1:c.5364_5365delGT NP_001394666.1:p.Trp1789Glyfs frameshift NM_001407738.1:c.5364_5365delGT NP_001394667.1:p.Trp1789Glyfs frameshift NM_001407739.1:c.5364_5365delGT NP_001394668.1:p.Trp1789Glyfs frameshift NM_001407740.1:c.5364_5365delGT NP_001394669.1:p.Trp1789Glyfs frameshift NM_001407741.1:c.5364_5365delGT NP_001394670.1:p.Trp1789Glyfs frameshift NM_001407742.1:c.5364_5365delGT NP_001394671.1:p.Trp1789Glyfs frameshift NM_001407743.1:c.5364_5365delGT NP_001394672.1:p.Trp1789Glyfs frameshift NM_001407744.1:c.5364_5365delGT NP_001394673.1:p.Trp1789Glyfs frameshift NM_001407745.1:c.5364_5365delGT NP_001394674.1:p.Trp1789Glyfs frameshift NM_001407746.1:c.5364_5365delGT NP_001394675.1:p.Trp1789Glyfs frameshift NM_001407747.1:c.5364_5365delGT NP_001394676.1:p.Trp1789Glyfs frameshift NM_001407748.1:c.5364_5365delGT NP_001394677.1:p.Trp1789Glyfs frameshift NM_001407749.1:c.5364_5365delGT NP_001394678.1:p.Trp1789Glyfs frameshift NM_001407750.1:c.5364_5365delGT NP_001394679.1:p.Trp1789Glyfs frameshift NM_001407751.1:c.5364_5365delGT NP_001394680.1:p.Trp1789Glyfs frameshift NM_001407752.1:c.5364_5365delGT NP_001394681.1:p.Trp1789Glyfs frameshift NM_001407838.1:c.5361_5362delGT NP_001394767.1:p.Trp1788Glyfs frameshift NM_001407839.1:c.5361_5362delGT NP_001394768.1:p.Trp1788Glyfs frameshift NM_001407841.1:c.5361_5362delGT NP_001394770.1:p.Trp1788Glyfs frameshift NM_001407842.1:c.5361_5362delGT NP_001394771.1:p.Trp1788Glyfs frameshift NM_001407843.1:c.5361_5362delGT NP_001394772.1:p.Trp1788Glyfs frameshift NM_001407844.1:c.5361_5362delGT NP_001394773.1:p.Trp1788Glyfs frameshift NM_001407845.1:c.5361_5362delGT NP_001394774.1:p.Trp1788Glyfs frameshift NM_001407846.1:c.5361_5362delGT NP_001394775.1:p.Trp1788Glyfs frameshift NM_001407847.1:c.5361_5362delGT NP_001394776.1:p.Trp1788Glyfs frameshift NM_001407848.1:c.5361_5362delGT NP_001394777.1:p.Trp1788Glyfs frameshift NM_001407849.1:c.5361_5362delGT NP_001394778.1:p.Trp1788Glyfs frameshift NM_001407850.1:c.5361_5362delGT NP_001394779.1:p.Trp1788Glyfs frameshift NM_001407851.1:c.5361_5362delGT NP_001394780.1:p.Trp1788Glyfs frameshift NM_001407852.1:c.5361_5362delGT NP_001394781.1:p.Trp1788Glyfs frameshift NM_001407853.1:c.5361_5362delGT NP_001394782.1:p.Trp1788Glyfs frameshift NM_001407854.1:c.*22_*23delGT NM_001407858.1:c.*22_*23delGT NM_001407859.1:c.*22_*23delGT NM_001407860.1:c.*22_*23delGT NM_001407861.1:c.*22_*23delGT NM_001407862.1:c.5307_5308delGT NP_001394791.1:p.Trp1770Glyfs frameshift NM_001407863.1:c.5304_5305delGT NP_001394792.1:p.Trp1769Glyfs frameshift NM_001407874.1:c.5301_5302delGT NP_001394803.1:p.Trp1768Glyfs frameshift NM_001407875.1:c.5301_5302delGT NP_001394804.1:p.Trp1768Glyfs frameshift NM_001407879.1:c.5298_5299delGT NP_001394808.1:p.Trp1767Glyfs frameshift NM_001407881.1:c.5298_5299delGT NP_001394810.1:p.Trp1767Glyfs frameshift NM_001407882.1:c.5298_5299delGT NP_001394811.1:p.Trp1767Glyfs frameshift NM_001407884.1:c.5298_5299delGT NP_001394813.1:p.Trp1767Glyfs frameshift NM_001407885.1:c.5298_5299delGT NP_001394814.1:p.Trp1767Glyfs frameshift NM_001407886.1:c.5298_5299delGT NP_001394815.1:p.Trp1767Glyfs frameshift NM_001407887.1:c.5298_5299delGT NP_001394816.1:p.Trp1767Glyfs frameshift NM_001407889.1:c.5298_5299delGT NP_001394818.1:p.Trp1767Glyfs frameshift NM_001407894.1:c.5295_5296delGT NP_001394823.1:p.Trp1766Glyfs frameshift NM_001407895.1:c.5295_5296delGT NP_001394824.1:p.Trp1766Glyfs frameshift NM_001407896.1:c.5295_5296delGT NP_001394825.1:p.Trp1766Glyfs frameshift NM_001407897.1:c.5295_5296delGT NP_001394826.1:p.Trp1766Glyfs frameshift NM_001407898.1:c.5295_5296delGT NP_001394827.1:p.Trp1766Glyfs frameshift NM_001407899.1:c.5295_5296delGT NP_001394828.1:p.Trp1766Glyfs frameshift NM_001407900.1:c.5295_5296delGT NP_001394829.1:p.Trp1766Glyfs frameshift NM_001407902.1:c.5295_5296delGT NP_001394831.1:p.Trp1766Glyfs frameshift NM_001407904.1:c.5295_5296delGT NP_001394833.1:p.Trp1766Glyfs frameshift NM_001407906.1:c.5295_5296delGT NP_001394835.1:p.Trp1766Glyfs frameshift NM_001407907.1:c.5295_5296delGT NP_001394836.1:p.Trp1766Glyfs frameshift NM_001407908.1:c.5295_5296delGT NP_001394837.1:p.Trp1766Glyfs frameshift NM_001407909.1:c.5295_5296delGT NP_001394838.1:p.Trp1766Glyfs frameshift NM_001407910.1:c.5295_5296delGT NP_001394839.1:p.Trp1766Glyfs frameshift NM_001407915.1:c.5292_5293delGT NP_001394844.1:p.Trp1765Glyfs frameshift NM_001407916.1:c.5292_5293delGT NP_001394845.1:p.Trp1765Glyfs frameshift NM_001407917.1:c.5292_5293delGT NP_001394846.1:p.Trp1765Glyfs frameshift NM_001407918.1:c.5292_5293delGT NP_001394847.1:p.Trp1765Glyfs frameshift NM_001407919.1:c.5256_5257delGT NP_001394848.1:p.Trp1753Glyfs frameshift NM_001407920.1:c.5244_5245delGT NP_001394849.1:p.Trp1749Glyfs frameshift NM_001407921.1:c.5244_5245delGT NP_001394850.1:p.Trp1749Glyfs frameshift NM_001407922.1:c.5244_5245delGT NP_001394851.1:p.Trp1749Glyfs frameshift NM_001407923.1:c.5244_5245delGT NP_001394852.1:p.Trp1749Glyfs frameshift NM_001407924.1:c.5244_5245delGT NP_001394853.1:p.Trp1749Glyfs frameshift NM_001407925.1:c.5244_5245delGT NP_001394854.1:p.Trp1749Glyfs frameshift NM_001407926.1:c.5244_5245delGT NP_001394855.1:p.Trp1749Glyfs frameshift NM_001407927.1:c.5241_5242delGT NP_001394856.1:p.Trp1748Glyfs frameshift NM_001407928.1:c.5241_5242delGT NP_001394857.1:p.Trp1748Glyfs frameshift NM_001407929.1:c.5241_5242delGT NP_001394858.1:p.Trp1748Glyfs frameshift NM_001407930.1:c.5241_5242delGT NP_001394859.1:p.Trp1748Glyfs frameshift NM_001407931.1:c.5241_5242delGT NP_001394860.1:p.Trp1748Glyfs frameshift NM_001407932.1:c.5241_5242delGT NP_001394861.1:p.Trp1748Glyfs frameshift NM_001407933.1:c.5241_5242delGT NP_001394862.1:p.Trp1748Glyfs frameshift NM_001407934.1:c.5238_5239delGT NP_001394863.1:p.Trp1747Glyfs frameshift NM_001407935.1:c.5238_5239delGT NP_001394864.1:p.Trp1747Glyfs frameshift NM_001407936.1:c.5238_5239delGT NP_001394865.1:p.Trp1747Glyfs frameshift NM_001407937.1:c.*22_*23delGT NM_001407938.1:c.*22_*23delGT NM_001407939.1:c.*22_*23delGT NM_001407940.1:c.*22_*23delGT NM_001407941.1:c.*22_*23delGT NM_001407942.1:c.*22_*23delGT NM_001407943.1:c.*22_*23delGT NM_001407944.1:c.*22_*23delGT NM_001407945.1:c.*22_*23delGT NM_001407946.1:c.5175_5176delGT NP_001394875.1:p.Trp1726Glyfs frameshift NM_001407947.1:c.5175_5176delGT NP_001394876.1:p.Trp1726Glyfs frameshift NM_001407948.1:c.5175_5176delGT NP_001394877.1:p.Trp1726Glyfs frameshift NM_001407949.1:c.5175_5176delGT NP_001394878.1:p.Trp1726Glyfs frameshift NM_001407950.1:c.5172_5173delGT NP_001394879.1:p.Trp1725Glyfs frameshift NM_001407951.1:c.5172_5173delGT NP_001394880.1:p.Trp1725Glyfs frameshift NM_001407952.1:c.5172_5173delGT NP_001394881.1:p.Trp1725Glyfs frameshift NM_001407953.1:c.5172_5173delGT NP_001394882.1:p.Trp1725Glyfs frameshift NM_001407954.1:c.5172_5173delGT NP_001394883.1:p.Trp1725Glyfs frameshift NM_001407955.1:c.5172_5173delGT NP_001394884.1:p.Trp1725Glyfs frameshift NM_001407956.1:c.5169_5170delGT NP_001394885.1:p.Trp1724Glyfs frameshift NM_001407957.1:c.5169_5170delGT NP_001394886.1:p.Trp1724Glyfs frameshift NM_001407958.1:c.5169_5170delGT NP_001394887.1:p.Trp1724Glyfs frameshift NM_001407959.1:c.5127_5128delGT NP_001394888.1:p.Trp1710Glyfs frameshift NM_001407960.1:c.5124_5125delGT NP_001394889.1:p.Trp1709Glyfs frameshift NM_001407962.1:c.5124_5125delGT NP_001394891.1:p.Trp1709Glyfs frameshift NM_001407963.1:c.5121_5122delGT NP_001394892.1:p.Trp1708Glyfs frameshift NM_001407964.1:c.5046_5047delGT NP_001394893.1:p.Trp1683Glyfs frameshift NM_001407965.1:c.5001_5002delGT NP_001394894.1:p.Trp1668Glyfs frameshift NM_001407966.1:c.4620_4621delGT NP_001394895.1:p.Trp1541Glyfs frameshift NM_001407967.1:c.4617_4618delGT NP_001394896.1:p.Trp1540Glyfs frameshift NM_001407968.1:c.2904_2905delGT NP_001394897.1:p.Trp969Glyfs frameshift NM_001407969.1:c.2901_2902delGT NP_001394898.1:p.Trp968Glyfs frameshift NM_001407970.1:c.2265_2266delGT NP_001394899.1:p.Trp756Glyfs frameshift NM_001407971.1:c.2265_2266delGT NP_001394900.1:p.Trp756Glyfs frameshift NM_001407972.1:c.2262_2263delGT NP_001394901.1:p.Trp755Glyfs frameshift NM_001407973.1:c.2199_2200delGT NP_001394902.1:p.Trp734Glyfs frameshift NM_001407974.1:c.2199_2200delGT NP_001394903.1:p.Trp734Glyfs frameshift NM_001407975.1:c.2199_2200delGT NP_001394904.1:p.Trp734Glyfs frameshift NM_001407976.1:c.2199_2200delGT NP_001394905.1:p.Trp734Glyfs frameshift NM_001407977.1:c.2199_2200delGT NP_001394906.1:p.Trp734Glyfs frameshift NM_001407978.1:c.2199_2200delGT NP_001394907.1:p.Trp734Glyfs frameshift NM_001407979.1:c.2196_2197delGT NP_001394908.1:p.Trp733Glyfs frameshift NM_001407980.1:c.2196_2197delGT NP_001394909.1:p.Trp733Glyfs frameshift NM_001407981.1:c.2196_2197delGT NP_001394910.1:p.Trp733Glyfs frameshift NM_001407982.1:c.2196_2197delGT NP_001394911.1:p.Trp733Glyfs frameshift NM_001407983.1:c.2196_2197delGT NP_001394912.1:p.Trp733Glyfs frameshift NM_001407984.1:c.2196_2197delGT NP_001394913.1:p.Trp733Glyfs frameshift NM_001407985.1:c.2196_2197delGT NP_001394914.1:p.Trp733Glyfs frameshift NM_001407986.1:c.2196_2197delGT NP_001394915.1:p.Trp733Glyfs frameshift NM_001407990.1:c.2196_2197delGT NP_001394919.1:p.Trp733Glyfs frameshift NM_001407991.1:c.2196_2197delGT NP_001394920.1:p.Trp733Glyfs frameshift NM_001407992.1:c.2196_2197delGT NP_001394921.1:p.Trp733Glyfs frameshift NM_001407993.1:c.2196_2197delGT NP_001394922.1:p.Trp733Glyfs frameshift NM_001408392.1:c.2193_2194delGT NP_001395321.1:p.Trp732Glyfs frameshift NM_001408396.1:c.2193_2194delGT NP_001395325.1:p.Trp732Glyfs frameshift NM_001408397.1:c.2193_2194delGT NP_001395326.1:p.Trp732Glyfs frameshift NM_001408398.1:c.2193_2194delGT NP_001395327.1:p.Trp732Glyfs frameshift NM_001408399.1:c.2193_2194delGT NP_001395328.1:p.Trp732Glyfs frameshift NM_001408400.1:c.2193_2194delGT NP_001395329.1:p.Trp732Glyfs frameshift NM_001408401.1:c.2193_2194delGT NP_001395330.1:p.Trp732Glyfs frameshift NM_001408402.1:c.2193_2194delGT NP_001395331.1:p.Trp732Glyfs frameshift NM_001408403.1:c.2193_2194delGT NP_001395332.1:p.Trp732Glyfs frameshift NM_001408404.1:c.2193_2194delGT NP_001395333.1:p.Trp732Glyfs frameshift NM_001408406.1:c.2190_2191delGT NP_001395335.1:p.Trp731Glyfs frameshift NM_001408407.1:c.2190_2191delGT NP_001395336.1:p.Trp731Glyfs frameshift NM_001408408.1:c.2190_2191delGT NP_001395337.1:p.Trp731Glyfs frameshift NM_001408409.1:c.2187_2188delGT NP_001395338.1:p.Trp730Glyfs frameshift NM_001408410.1:c.2124_2125delGT NP_001395339.1:p.Trp709Glyfs frameshift NM_001408411.1:c.2121_2122delGT NP_001395340.1:p.Trp708Glyfs frameshift NM_001408412.1:c.2118_2119delGT NP_001395341.1:p.Trp707Glyfs frameshift NM_001408413.1:c.2118_2119delGT NP_001395342.1:p.Trp707Glyfs frameshift NM_001408414.1:c.2118_2119delGT NP_001395343.1:p.Trp707Glyfs frameshift NM_001408415.1:c.2118_2119delGT NP_001395344.1:p.Trp707Glyfs frameshift NM_001408416.1:c.2118_2119delGT NP_001395345.1:p.Trp707Glyfs frameshift NM_001408418.1:c.2082_2083delGT NP_001395347.1:p.Trp695Glyfs frameshift NM_001408419.1:c.2082_2083delGT NP_001395348.1:p.Trp695Glyfs frameshift NM_001408420.1:c.2082_2083delGT NP_001395349.1:p.Trp695Glyfs frameshift NM_001408421.1:c.2079_2080delGT NP_001395350.1:p.Trp694Glyfs frameshift NM_001408422.1:c.2079_2080delGT NP_001395351.1:p.Trp694Glyfs frameshift NM_001408423.1:c.2079_2080delGT NP_001395352.1:p.Trp694Glyfs frameshift NM_001408424.1:c.2079_2080delGT NP_001395353.1:p.Trp694Glyfs frameshift NM_001408425.1:c.2076_2077delGT NP_001395354.1:p.Trp693Glyfs frameshift NM_001408426.1:c.2076_2077delGT NP_001395355.1:p.Trp693Glyfs frameshift NM_001408427.1:c.2076_2077delGT NP_001395356.1:p.Trp693Glyfs frameshift NM_001408428.1:c.2076_2077delGT NP_001395357.1:p.Trp693Glyfs frameshift NM_001408429.1:c.2076_2077delGT NP_001395358.1:p.Trp693Glyfs frameshift NM_001408430.1:c.2076_2077delGT NP_001395359.1:p.Trp693Glyfs frameshift NM_001408431.1:c.2076_2077delGT NP_001395360.1:p.Trp693Glyfs frameshift NM_001408432.1:c.2073_2074delGT NP_001395361.1:p.Trp692Glyfs frameshift NM_001408433.1:c.2073_2074delGT NP_001395362.1:p.Trp692Glyfs frameshift NM_001408434.1:c.2073_2074delGT NP_001395363.1:p.Trp692Glyfs frameshift NM_001408435.1:c.2073_2074delGT NP_001395364.1:p.Trp692Glyfs frameshift NM_001408436.1:c.2073_2074delGT NP_001395365.1:p.Trp692Glyfs frameshift NM_001408437.1:c.2073_2074delGT NP_001395366.1:p.Trp692Glyfs frameshift NM_001408438.1:c.2073_2074delGT NP_001395367.1:p.Trp692Glyfs frameshift NM_001408439.1:c.2073_2074delGT NP_001395368.1:p.Trp692Glyfs frameshift NM_001408440.1:c.2073_2074delGT NP_001395369.1:p.Trp692Glyfs frameshift NM_001408441.1:c.2073_2074delGT NP_001395370.1:p.Trp692Glyfs frameshift NM_001408442.1:c.2073_2074delGT NP_001395371.1:p.Trp692Glyfs frameshift NM_001408443.1:c.2073_2074delGT NP_001395372.1:p.Trp692Glyfs frameshift NM_001408444.1:c.2073_2074delGT NP_001395373.1:p.Trp692Glyfs frameshift NM_001408445.1:c.2070_2071delGT NP_001395374.1:p.Trp691Glyfs frameshift NM_001408446.1:c.2070_2071delGT NP_001395375.1:p.Trp691Glyfs frameshift NM_001408447.1:c.2070_2071delGT NP_001395376.1:p.Trp691Glyfs frameshift NM_001408448.1:c.2070_2071delGT NP_001395377.1:p.Trp691Glyfs frameshift NM_001408450.1:c.2070_2071delGT NP_001395379.1:p.Trp691Glyfs frameshift NM_001408451.1:c.2064_2065delGT NP_001395380.1:p.Trp689Glyfs frameshift NM_001408452.1:c.2058_2059delGT NP_001395381.1:p.Trp687Glyfs frameshift NM_001408453.1:c.2058_2059delGT NP_001395382.1:p.Trp687Glyfs frameshift NM_001408454.1:c.2058_2059delGT NP_001395383.1:p.Trp687Glyfs frameshift NM_001408455.1:c.2058_2059delGT NP_001395384.1:p.Trp687Glyfs frameshift NM_001408456.1:c.2058_2059delGT NP_001395385.1:p.Trp687Glyfs frameshift NM_001408457.1:c.2058_2059delGT NP_001395386.1:p.Trp687Glyfs frameshift NM_001408458.1:c.2055_2056delGT NP_001395387.1:p.Trp686Glyfs frameshift NM_001408459.1:c.2055_2056delGT NP_001395388.1:p.Trp686Glyfs frameshift NM_001408460.1:c.2055_2056delGT NP_001395389.1:p.Trp686Glyfs frameshift NM_001408461.1:c.2055_2056delGT NP_001395390.1:p.Trp686Glyfs frameshift NM_001408462.1:c.2055_2056delGT NP_001395391.1:p.Trp686Glyfs frameshift NM_001408463.1:c.2055_2056delGT NP_001395392.1:p.Trp686Glyfs frameshift NM_001408464.1:c.2055_2056delGT NP_001395393.1:p.Trp686Glyfs frameshift NM_001408465.1:c.2055_2056delGT NP_001395394.1:p.Trp686Glyfs frameshift NM_001408466.1:c.2055_2056delGT NP_001395395.1:p.Trp686Glyfs frameshift NM_001408467.1:c.2055_2056delGT NP_001395396.1:p.Trp686Glyfs frameshift NM_001408468.1:c.2052_2053delGT NP_001395397.1:p.Trp685Glyfs frameshift NM_001408469.1:c.2052_2053delGT NP_001395398.1:p.Trp685Glyfs frameshift NM_001408470.1:c.2052_2053delGT NP_001395399.1:p.Trp685Glyfs frameshift NM_001408472.1:c.*22_*23delGT NM_001408473.1:c.*22_*23delGT NM_001408474.1:c.1998_1999delGT NP_001395403.1:p.Trp667Glyfs frameshift NM_001408475.1:c.1995_1996delGT NP_001395404.1:p.Trp666Glyfs frameshift NM_001408476.1:c.1995_1996delGT NP_001395405.1:p.Trp666Glyfs frameshift NM_001408478.1:c.1989_1990delGT NP_001395407.1:p.Trp664Glyfs frameshift NM_001408479.1:c.1989_1990delGT NP_001395408.1:p.Trp664Glyfs frameshift NM_001408480.1:c.1989_1990delGT NP_001395409.1:p.Trp664Glyfs frameshift NM_001408481.1:c.1986_1987delGT NP_001395410.1:p.Trp663Glyfs frameshift NM_001408482.1:c.1986_1987delGT NP_001395411.1:p.Trp663Glyfs frameshift NM_001408483.1:c.1986_1987delGT NP_001395412.1:p.Trp663Glyfs frameshift NM_001408484.1:c.1986_1987delGT NP_001395413.1:p.Trp663Glyfs frameshift NM_001408485.1:c.1986_1987delGT NP_001395414.1:p.Trp663Glyfs frameshift NM_001408489.1:c.1986_1987delGT NP_001395418.1:p.Trp663Glyfs frameshift NM_001408490.1:c.1986_1987delGT NP_001395419.1:p.Trp663Glyfs frameshift NM_001408491.1:c.1986_1987delGT NP_001395420.1:p.Trp663Glyfs frameshift NM_001408492.1:c.1983_1984delGT NP_001395421.1:p.Trp662Glyfs frameshift NM_001408493.1:c.1983_1984delGT NP_001395422.1:p.Trp662Glyfs frameshift NM_001408494.1:c.1959_1960delGT NP_001395423.1:p.Trp654Glyfs frameshift NM_001408495.1:c.1953_1954delGT NP_001395424.1:p.Trp652Glyfs frameshift NM_001408496.1:c.1935_1936delGT NP_001395425.1:p.Trp646Glyfs frameshift NM_001408497.1:c.1935_1936delGT NP_001395426.1:p.Trp646Glyfs frameshift NM_001408498.1:c.1935_1936delGT NP_001395427.1:p.Trp646Glyfs frameshift NM_001408499.1:c.1935_1936delGT NP_001395428.1:p.Trp646Glyfs frameshift NM_001408500.1:c.1935_1936delGT NP_001395429.1:p.Trp646Glyfs frameshift NM_001408501.1:c.1935_1936delGT NP_001395430.1:p.Trp646Glyfs frameshift NM_001408502.1:c.1932_1933delGT NP_001395431.1:p.Trp645Glyfs frameshift NM_001408503.1:c.1932_1933delGT NP_001395432.1:p.Trp645Glyfs frameshift NM_001408504.1:c.1932_1933delGT NP_001395433.1:p.Trp645Glyfs frameshift NM_001408505.1:c.1929_1930delGT NP_001395434.1:p.Trp644Glyfs frameshift NM_001408506.1:c.1872_1873delGT NP_001395435.1:p.Trp625Glyfs frameshift NM_001408507.1:c.1869_1870delGT NP_001395436.1:p.Trp624Glyfs frameshift NM_001408508.1:c.1860_1861delGT NP_001395437.1:p.Trp621Glyfs frameshift NM_001408509.1:c.1857_1858delGT NP_001395438.1:p.Trp620Glyfs frameshift NM_001408510.1:c.1818_1819delGT NP_001395439.1:p.Trp607Glyfs frameshift NM_001408511.1:c.1815_1816delGT NP_001395440.1:p.Trp606Glyfs frameshift NM_001408512.1:c.1695_1696delGT NP_001395441.1:p.Trp566Glyfs frameshift NM_001408513.1:c.1668_1669delGT NP_001395442.1:p.Trp557Glyfs frameshift NM_001408514.1:c.1272_1273delGT NP_001395443.1:p.Trp425Glyfs frameshift NM_007294.3:c.5509_5510delTG frameshift NM_007297.4:c.5368_5369del NP_009228.2:p.Trp1790fs frameshift NM_007298.4:c.2196_2197delGT NP_009229.2:p.Trp733Glyfs frameshift NM_007299.4:c.*23_*24del 3 prime UTR NM_007300.4:c.5572_5573del NP_009231.2:p.Trp1858fs frameshift NM_007304.2:c.2196_2197delGT NP_009235.2:p.Trp733Glyfs frameshift NR_027676.2:n.5686_5687del non-coding transcript variant NC_000017.11:g.43045761_43045762del NC_000017.10:g.41197778_41197779del NG_005905.2:g.172223_172224del LRG_292:g.172223_172224del LRG_292t1:c.5508_5509del LRG_292p1:p.Trp1837Glyfs - Protein change
- W1790fs, W1858fs, W733fs, W1837fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045759:CAC: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 | ||
---|---|---|---|---|---|---|
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. |
---|---|---|---|---|
Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496657.2 | |
Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661246.2 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783509.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587516.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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 rs1135401888 ...
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.