ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5486_5510del (p.Glu1829fs)
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.5486_5510del (p.Glu1829fs)
Variation ID: 266554 Accession: VCV000266554.6
- Type and length
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Deletion, 25 bp
- Location
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Cytogenetic: 17q21.31 17: 43045760-43045784 (GRCh38) [ NCBI UCSC ] 17: 41197777-41197801 (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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5486_5510del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1829fs frameshift NM_001407571.1:c.5270_5294del25 NP_001394500.1:p.Glu1758Glyfs frameshift NM_001407581.1:c.5549_5573del25 NP_001394510.1:p.Glu1851Glyfs frameshift NM_001407582.1:c.5549_5573del25 NP_001394511.1:p.Glu1851Glyfs frameshift NM_001407583.1:c.5546_5570del25 NP_001394512.1:p.Glu1850Glyfs frameshift NM_001407585.1:c.5546_5570del25 NP_001394514.1:p.Glu1850Glyfs frameshift NM_001407587.1:c.5546_5570del25 NP_001394516.1:p.Glu1850Glyfs frameshift NM_001407590.1:c.5543_5567del25 NP_001394519.1:p.Glu1849Glyfs frameshift NM_001407591.1:c.5543_5567del25 NP_001394520.1:p.Glu1849Glyfs frameshift NM_001407593.1:c.5483_5507del25 NP_001394522.1:p.Glu1829Glyfs frameshift NM_001407594.1:c.5483_5507del25 NP_001394523.1:p.Glu1829Glyfs frameshift NM_001407596.1:c.5483_5507del25 NP_001394525.1:p.Glu1829Glyfs frameshift NM_001407597.1:c.5483_5507del25 NP_001394526.1:p.Glu1829Glyfs frameshift NM_001407598.1:c.5483_5507del25 NP_001394527.1:p.Glu1829Glyfs frameshift NM_001407602.1:c.5483_5507del25 NP_001394531.1:p.Glu1829Glyfs frameshift NM_001407603.1:c.5483_5507del25 NP_001394532.1:p.Glu1829Glyfs frameshift NM_001407605.1:c.5483_5507del25 NP_001394534.1:p.Glu1829Glyfs frameshift NM_001407610.1:c.5480_5504del25 NP_001394539.1:p.Glu1828Glyfs frameshift NM_001407611.1:c.5480_5504del25 NP_001394540.1:p.Glu1828Glyfs frameshift NM_001407612.1:c.5480_5504del25 NP_001394541.1:p.Glu1828Glyfs frameshift NM_001407613.1:c.5480_5504del25 NP_001394542.1:p.Glu1828Glyfs frameshift NM_001407614.1:c.5480_5504del25 NP_001394543.1:p.Glu1828Glyfs frameshift NM_001407615.1:c.5480_5504del25 NP_001394544.1:p.Glu1828Glyfs frameshift NM_001407616.1:c.5480_5504del25 NP_001394545.1:p.Glu1828Glyfs frameshift NM_001407617.1:c.5480_5504del25 NP_001394546.1:p.Glu1828Glyfs frameshift NM_001407618.1:c.5480_5504del25 NP_001394547.1:p.Glu1828Glyfs frameshift NM_001407619.1:c.5480_5504del25 NP_001394548.1:p.Glu1828Glyfs frameshift NM_001407620.1:c.5480_5504del25 NP_001394549.1:p.Glu1828Glyfs frameshift NM_001407621.1:c.5480_5504del25 NP_001394550.1:p.Glu1828Glyfs frameshift NM_001407622.1:c.5480_5504del25 NP_001394551.1:p.Glu1828Glyfs frameshift NM_001407623.1:c.5480_5504del25 NP_001394552.1:p.Glu1828Glyfs frameshift NM_001407624.1:c.5480_5504del25 NP_001394553.1:p.Glu1828Glyfs frameshift NM_001407625.1:c.5480_5504del25 NP_001394554.1:p.Glu1828Glyfs frameshift NM_001407626.1:c.5480_5504del25 NP_001394555.1:p.Glu1828Glyfs frameshift NM_001407627.1:c.5477_5501del25 NP_001394556.1:p.Glu1827Glyfs frameshift NM_001407628.1:c.5477_5501del25 NP_001394557.1:p.Glu1827Glyfs frameshift NM_001407629.1:c.5477_5501del25 NP_001394558.1:p.Glu1827Glyfs frameshift NM_001407630.1:c.5477_5501del25 NP_001394559.1:p.Glu1827Glyfs frameshift NM_001407631.1:c.5477_5501del25 NP_001394560.1:p.Glu1827Glyfs frameshift NM_001407632.1:c.5477_5501del25 NP_001394561.1:p.Glu1827Glyfs frameshift NM_001407633.1:c.5477_5501del25 NP_001394562.1:p.Glu1827Glyfs frameshift NM_001407634.1:c.5477_5501del25 NP_001394563.1:p.Glu1827Glyfs frameshift NM_001407635.1:c.5477_5501del25 NP_001394564.1:p.Glu1827Glyfs frameshift NM_001407636.1:c.5477_5501del25 NP_001394565.1:p.Glu1827Glyfs frameshift NM_001407637.1:c.5477_5501del25 NP_001394566.1:p.Glu1827Glyfs frameshift NM_001407638.1:c.5477_5501del25 NP_001394567.1:p.Glu1827Glyfs frameshift NM_001407639.1:c.5477_5501del25 NP_001394568.1:p.Glu1827Glyfs frameshift NM_001407640.1:c.5477_5501del25 NP_001394569.1:p.Glu1827Glyfs frameshift NM_001407641.1:c.5477_5501del25 NP_001394570.1:p.Glu1827Glyfs frameshift NM_001407642.1:c.5477_5501del25 NP_001394571.1:p.Glu1827Glyfs frameshift NM_001407644.1:c.5474_5498del25 NP_001394573.1:p.Glu1826Glyfs frameshift NM_001407645.1:c.5474_5498del25 NP_001394574.1:p.Glu1826Glyfs frameshift NM_001407646.1:c.5471_5495del25 NP_001394575.1:p.Glu1825Glyfs frameshift NM_001407647.1:c.5468_5492del25 NP_001394576.1:p.Glu1824Glyfs frameshift NM_001407648.1:c.5426_5450del25 NP_001394577.1:p.Glu1810Glyfs frameshift NM_001407649.1:c.5423_5447del25 NP_001394578.1:p.Glu1809Glyfs frameshift NM_001407652.1:c.5405_5429del25 NP_001394581.1:p.Glu1803Glyfs frameshift NM_001407653.1:c.5405_5429del25 NP_001394582.1:p.Glu1803Glyfs frameshift NM_001407654.1:c.5405_5429del25 NP_001394583.1:p.Glu1803Glyfs frameshift NM_001407655.1:c.5405_5429del25 NP_001394584.1:p.Glu1803Glyfs frameshift NM_001407656.1:c.5402_5426del25 NP_001394585.1:p.Glu1802Glyfs frameshift NM_001407657.1:c.5402_5426del25 NP_001394586.1:p.Glu1802Glyfs frameshift NM_001407658.1:c.5402_5426del25 NP_001394587.1:p.Glu1802Glyfs frameshift NM_001407659.1:c.5399_5423del25 NP_001394588.1:p.Glu1801Glyfs frameshift NM_001407660.1:c.5399_5423del25 NP_001394589.1:p.Glu1801Glyfs frameshift NM_001407661.1:c.5399_5423del25 NP_001394590.1:p.Glu1801Glyfs frameshift NM_001407662.1:c.5399_5423del25 NP_001394591.1:p.Glu1801Glyfs frameshift NM_001407663.1:c.5399_5423del25 NP_001394592.1:p.Glu1801Glyfs frameshift NM_001407664.1:c.5360_5384del25 NP_001394593.1:p.Glu1788Glyfs frameshift NM_001407665.1:c.5360_5384del25 NP_001394594.1:p.Glu1788Glyfs frameshift NM_001407666.1:c.5360_5384del25 NP_001394595.1:p.Glu1788Glyfs frameshift NM_001407667.1:c.5360_5384del25 NP_001394596.1:p.Glu1788Glyfs frameshift NM_001407668.1:c.5360_5384del25 NP_001394597.1:p.Glu1788Glyfs frameshift NM_001407669.1:c.5360_5384del25 NP_001394598.1:p.Glu1788Glyfs frameshift NM_001407670.1:c.5357_5381del25 NP_001394599.1:p.Glu1787Glyfs frameshift NM_001407671.1:c.5357_5381del25 NP_001394600.1:p.Glu1787Glyfs frameshift NM_001407672.1:c.5357_5381del25 NP_001394601.1:p.Glu1787Glyfs frameshift NM_001407673.1:c.5357_5381del25 NP_001394602.1:p.Glu1787Glyfs frameshift NM_001407674.1:c.5357_5381del25 NP_001394603.1:p.Glu1787Glyfs frameshift NM_001407675.1:c.5357_5381del25 NP_001394604.1:p.Glu1787Glyfs frameshift NM_001407676.1:c.5357_5381del25 NP_001394605.1:p.Glu1787Glyfs frameshift NM_001407677.1:c.5357_5381del25 NP_001394606.1:p.Glu1787Glyfs frameshift NM_001407678.1:c.5357_5381del25 NP_001394607.1:p.Glu1787Glyfs frameshift NM_001407679.1:c.5357_5381del25 NP_001394608.1:p.Glu1787Glyfs frameshift NM_001407680.1:c.5357_5381del25 NP_001394609.1:p.Glu1787Glyfs frameshift NM_001407681.1:c.5354_5378del25 NP_001394610.1:p.Glu1786Glyfs frameshift NM_001407682.1:c.5354_5378del25 NP_001394611.1:p.Glu1786Glyfs frameshift NM_001407683.1:c.5354_5378del25 NP_001394612.1:p.Glu1786Glyfs frameshift NM_001407684.1:c.5354_5378del25 NP_001394613.1:p.Glu1786Glyfs frameshift NM_001407685.1:c.5354_5378del25 NP_001394614.1:p.Glu1786Glyfs frameshift NM_001407686.1:c.5354_5378del25 NP_001394615.1:p.Glu1786Glyfs frameshift NM_001407687.1:c.5354_5378del25 NP_001394616.1:p.Glu1786Glyfs frameshift NM_001407688.1:c.5354_5378del25 NP_001394617.1:p.Glu1786Glyfs frameshift NM_001407689.1:c.5354_5378del25 NP_001394618.1:p.Glu1786Glyfs frameshift NM_001407690.1:c.5351_5375del25 NP_001394619.1:p.Glu1785Glyfs frameshift NM_001407691.1:c.5351_5375del25 NP_001394620.1:p.Glu1785Glyfs frameshift NM_001407692.1:c.5342_5366del25 NP_001394621.1:p.Glu1782Glyfs frameshift NM_001407694.1:c.5342_5366del25 NP_001394623.1:p.Glu1782Glyfs frameshift NM_001407695.1:c.5342_5366del25 NP_001394624.1:p.Glu1782Glyfs frameshift NM_001407696.1:c.5342_5366del25 NP_001394625.1:p.Glu1782Glyfs frameshift NM_001407697.1:c.5342_5366del25 NP_001394626.1:p.Glu1782Glyfs frameshift NM_001407698.1:c.5342_5366del25 NP_001394627.1:p.Glu1782Glyfs frameshift NM_001407724.1:c.5342_5366del25 NP_001394653.1:p.Glu1782Glyfs frameshift NM_001407725.1:c.5342_5366del25 NP_001394654.1:p.Glu1782Glyfs frameshift NM_001407726.1:c.5342_5366del25 NP_001394655.1:p.Glu1782Glyfs frameshift NM_001407727.1:c.5342_5366del25 NP_001394656.1:p.Glu1782Glyfs frameshift NM_001407728.1:c.5342_5366del25 NP_001394657.1:p.Glu1782Glyfs frameshift NM_001407729.1:c.5342_5366del25 NP_001394658.1:p.Glu1782Glyfs frameshift NM_001407730.1:c.5342_5366del25 NP_001394659.1:p.Glu1782Glyfs frameshift NM_001407731.1:c.5342_5366del25 NP_001394660.1:p.Glu1782Glyfs frameshift NM_001407732.1:c.5339_5363del25 NP_001394661.1:p.Glu1781Glyfs frameshift NM_001407733.1:c.5339_5363del25 NP_001394662.1:p.Glu1781Glyfs frameshift NM_001407734.1:c.5339_5363del25 NP_001394663.1:p.Glu1781Glyfs frameshift NM_001407735.1:c.5339_5363del25 NP_001394664.1:p.Glu1781Glyfs frameshift NM_001407736.1:c.5339_5363del25 NP_001394665.1:p.Glu1781Glyfs frameshift NM_001407737.1:c.5339_5363del25 NP_001394666.1:p.Glu1781Glyfs frameshift NM_001407738.1:c.5339_5363del25 NP_001394667.1:p.Glu1781Glyfs frameshift NM_001407739.1:c.5339_5363del25 NP_001394668.1:p.Glu1781Glyfs frameshift NM_001407740.1:c.5339_5363del25 NP_001394669.1:p.Glu1781Glyfs frameshift NM_001407741.1:c.5339_5363del25 NP_001394670.1:p.Glu1781Glyfs frameshift NM_001407742.1:c.5339_5363del25 NP_001394671.1:p.Glu1781Glyfs frameshift NM_001407743.1:c.5339_5363del25 NP_001394672.1:p.Glu1781Glyfs frameshift NM_001407744.1:c.5339_5363del25 NP_001394673.1:p.Glu1781Glyfs frameshift NM_001407745.1:c.5339_5363del25 NP_001394674.1:p.Glu1781Glyfs frameshift NM_001407746.1:c.5339_5363del25 NP_001394675.1:p.Glu1781Glyfs frameshift NM_001407747.1:c.5339_5363del25 NP_001394676.1:p.Glu1781Glyfs frameshift NM_001407748.1:c.5339_5363del25 NP_001394677.1:p.Glu1781Glyfs frameshift NM_001407749.1:c.5339_5363del25 NP_001394678.1:p.Glu1781Glyfs frameshift NM_001407750.1:c.5339_5363del25 NP_001394679.1:p.Glu1781Glyfs frameshift NM_001407751.1:c.5339_5363del25 NP_001394680.1:p.Glu1781Glyfs frameshift NM_001407752.1:c.5339_5363del25 NP_001394681.1:p.Glu1781Glyfs frameshift NM_001407838.1:c.5336_5360del25 NP_001394767.1:p.Glu1780Glyfs frameshift NM_001407839.1:c.5336_5360del25 NP_001394768.1:p.Glu1780Glyfs frameshift NM_001407841.1:c.5336_5360del25 NP_001394770.1:p.Glu1780Glyfs frameshift NM_001407842.1:c.5336_5360del25 NP_001394771.1:p.Glu1780Glyfs frameshift NM_001407843.1:c.5336_5360del25 NP_001394772.1:p.Glu1780Glyfs frameshift NM_001407844.1:c.5336_5360del25 NP_001394773.1:p.Glu1780Glyfs frameshift NM_001407845.1:c.5336_5360del25 NP_001394774.1:p.Glu1780Glyfs frameshift NM_001407846.1:c.5336_5360del25 NP_001394775.1:p.Glu1780Glyfs frameshift NM_001407847.1:c.5336_5360del25 NP_001394776.1:p.Glu1780Glyfs frameshift NM_001407848.1:c.5336_5360del25 NP_001394777.1:p.Glu1780Glyfs frameshift NM_001407849.1:c.5336_5360del25 NP_001394778.1:p.Glu1780Glyfs frameshift NM_001407850.1:c.5336_5360del25 NP_001394779.1:p.Glu1780Glyfs frameshift NM_001407851.1:c.5336_5360del25 NP_001394780.1:p.Glu1780Glyfs frameshift NM_001407852.1:c.5336_5360del25 NP_001394781.1:p.Glu1780Glyfs frameshift NM_001407853.1:c.5336_5360del25 NP_001394782.1:p.Glu1780Glyfs frameshift NM_001407854.1:c.5409_*21del25 NP_001394783.1:p.Val1803_Ter(1804_?)(?) frameshift NM_001407858.1:c.5406_*21del25 NP_001394787.1:p.Val1802_Ter(1803_?)(?) frameshift NM_001407859.1:c.5406_*21del25 NP_001394788.1:p.Val1802_Ter(1803_?)(?) frameshift NM_001407860.1:c.5406_*21del25 NP_001394789.1:p.Val1802_Ter(1803_?)(?) frameshift NM_001407861.1:c.5403_*21del25 NP_001394790.1:p.Val1801_Ter(1802_?)(?) frameshift NM_001407862.1:c.5282_5306del25 NP_001394791.1:p.Glu1762Glyfs frameshift NM_001407863.1:c.5279_5303del25 NP_001394792.1:p.Glu1761Glyfs frameshift NM_001407874.1:c.5276_5300del25 NP_001394803.1:p.Glu1760Glyfs frameshift NM_001407875.1:c.5276_5300del25 NP_001394804.1:p.Glu1760Glyfs frameshift NM_001407879.1:c.5273_5297del25 NP_001394808.1:p.Glu1759Glyfs frameshift NM_001407881.1:c.5273_5297del25 NP_001394810.1:p.Glu1759Glyfs frameshift NM_001407882.1:c.5273_5297del25 NP_001394811.1:p.Glu1759Glyfs frameshift NM_001407884.1:c.5273_5297del25 NP_001394813.1:p.Glu1759Glyfs frameshift NM_001407885.1:c.5273_5297del25 NP_001394814.1:p.Glu1759Glyfs frameshift NM_001407886.1:c.5273_5297del25 NP_001394815.1:p.Glu1759Glyfs frameshift NM_001407887.1:c.5273_5297del25 NP_001394816.1:p.Glu1759Glyfs frameshift NM_001407889.1:c.5273_5297del25 NP_001394818.1:p.Glu1759Glyfs frameshift NM_001407894.1:c.5270_5294del25 NP_001394823.1:p.Glu1758Glyfs frameshift NM_001407895.1:c.5270_5294del25 NP_001394824.1:p.Glu1758Glyfs frameshift NM_001407896.1:c.5270_5294del25 NP_001394825.1:p.Glu1758Glyfs frameshift NM_001407897.1:c.5270_5294del25 NP_001394826.1:p.Glu1758Glyfs frameshift NM_001407898.1:c.5270_5294del25 NP_001394827.1:p.Glu1758Glyfs frameshift NM_001407899.1:c.5270_5294del25 NP_001394828.1:p.Glu1758Glyfs frameshift NM_001407900.1:c.5270_5294del25 NP_001394829.1:p.Glu1758Glyfs frameshift NM_001407902.1:c.5270_5294del25 NP_001394831.1:p.Glu1758Glyfs frameshift NM_001407904.1:c.5270_5294del25 NP_001394833.1:p.Glu1758Glyfs frameshift NM_001407906.1:c.5270_5294del25 NP_001394835.1:p.Glu1758Glyfs frameshift NM_001407907.1:c.5270_5294del25 NP_001394836.1:p.Glu1758Glyfs frameshift NM_001407908.1:c.5270_5294del25 NP_001394837.1:p.Glu1758Glyfs frameshift NM_001407909.1:c.5270_5294del25 NP_001394838.1:p.Glu1758Glyfs frameshift NM_001407910.1:c.5270_5294del25 NP_001394839.1:p.Glu1758Glyfs frameshift NM_001407915.1:c.5267_5291del25 NP_001394844.1:p.Glu1757Glyfs frameshift NM_001407916.1:c.5267_5291del25 NP_001394845.1:p.Glu1757Glyfs frameshift NM_001407917.1:c.5267_5291del25 NP_001394846.1:p.Glu1757Glyfs frameshift NM_001407918.1:c.5267_5291del25 NP_001394847.1:p.Glu1757Glyfs frameshift NM_001407919.1:c.5231_5255del25 NP_001394848.1:p.Glu1745Glyfs frameshift NM_001407920.1:c.5219_5243del25 NP_001394849.1:p.Glu1741Glyfs frameshift NM_001407921.1:c.5219_5243del25 NP_001394850.1:p.Glu1741Glyfs frameshift NM_001407922.1:c.5219_5243del25 NP_001394851.1:p.Glu1741Glyfs frameshift NM_001407923.1:c.5219_5243del25 NP_001394852.1:p.Glu1741Glyfs frameshift NM_001407924.1:c.5219_5243del25 NP_001394853.1:p.Glu1741Glyfs frameshift NM_001407925.1:c.5219_5243del25 NP_001394854.1:p.Glu1741Glyfs frameshift NM_001407926.1:c.5219_5243del25 NP_001394855.1:p.Glu1741Glyfs frameshift NM_001407927.1:c.5216_5240del25 NP_001394856.1:p.Glu1740Glyfs frameshift NM_001407928.1:c.5216_5240del25 NP_001394857.1:p.Glu1740Glyfs frameshift NM_001407929.1:c.5216_5240del25 NP_001394858.1:p.Glu1740Glyfs frameshift NM_001407930.1:c.5216_5240del25 NP_001394859.1:p.Glu1740Glyfs frameshift NM_001407931.1:c.5216_5240del25 NP_001394860.1:p.Glu1740Glyfs frameshift NM_001407932.1:c.5216_5240del25 NP_001394861.1:p.Glu1740Glyfs frameshift NM_001407933.1:c.5216_5240del25 NP_001394862.1:p.Glu1740Glyfs frameshift NM_001407934.1:c.5213_5237del25 NP_001394863.1:p.Glu1739Glyfs frameshift NM_001407935.1:c.5213_5237del25 NP_001394864.1:p.Glu1739Glyfs frameshift NM_001407936.1:c.5213_5237del25 NP_001394865.1:p.Glu1739Glyfs frameshift NM_001407937.1:c.5286_*21del25 NP_001394866.1:p.Val1762_Ter(1763_?)(?) frameshift NM_001407938.1:c.5286_*21del25 NP_001394867.1:p.Val1762_Ter(1763_?)(?) frameshift NM_001407939.1:c.5283_*21del25 NP_001394868.1:p.Val1761_Ter(1762_?)(?) frameshift NM_001407940.1:c.5283_*21del25 NP_001394869.1:p.Val1761_Ter(1762_?)(?) frameshift NM_001407941.1:c.5280_*21del25 NP_001394870.1:p.Val1760_Ter(1761_?)(?) frameshift NM_001407942.1:c.5268_*21del25 NP_001394871.1:p.Val1756_Ter(1757_?)(?) frameshift NM_001407943.1:c.5265_*21del25 NP_001394872.1:p.Val1755_Ter(1756_?)(?) frameshift NM_001407944.1:c.5265_*21del25 NP_001394873.1:p.Val1755_Ter(1756_?)(?) frameshift NM_001407945.1:c.5265_*21del25 NP_001394874.1:p.Val1755_Ter(1756_?)(?) frameshift NM_001407946.1:c.5150_5174del25 NP_001394875.1:p.Glu1718Glyfs frameshift NM_001407947.1:c.5150_5174del25 NP_001394876.1:p.Glu1718Glyfs frameshift NM_001407948.1:c.5150_5174del25 NP_001394877.1:p.Glu1718Glyfs frameshift NM_001407949.1:c.5150_5174del25 NP_001394878.1:p.Glu1718Glyfs frameshift NM_001407950.1:c.5147_5171del25 NP_001394879.1:p.Glu1717Glyfs frameshift NM_001407951.1:c.5147_5171del25 NP_001394880.1:p.Glu1717Glyfs frameshift NM_001407952.1:c.5147_5171del25 NP_001394881.1:p.Glu1717Glyfs frameshift NM_001407953.1:c.5147_5171del25 NP_001394882.1:p.Glu1717Glyfs frameshift NM_001407954.1:c.5147_5171del25 NP_001394883.1:p.Glu1717Glyfs frameshift NM_001407955.1:c.5147_5171del25 NP_001394884.1:p.Glu1717Glyfs frameshift NM_001407956.1:c.5144_5168del25 NP_001394885.1:p.Glu1716Glyfs frameshift NM_001407957.1:c.5144_5168del25 NP_001394886.1:p.Glu1716Glyfs frameshift NM_001407958.1:c.5144_5168del25 NP_001394887.1:p.Glu1716Glyfs frameshift NM_001407959.1:c.5102_5126del25 NP_001394888.1:p.Glu1702Glyfs frameshift NM_001407960.1:c.5099_5123del25 NP_001394889.1:p.Glu1701Glyfs frameshift NM_001407962.1:c.5099_5123del25 NP_001394891.1:p.Glu1701Glyfs frameshift NM_001407963.1:c.5096_5120del25 NP_001394892.1:p.Glu1700Glyfs frameshift NM_001407964.1:c.5021_5045del25 NP_001394893.1:p.Glu1675Glyfs frameshift NM_001407965.1:c.4976_5000del25 NP_001394894.1:p.Glu1660Glyfs frameshift NM_001407966.1:c.4595_4619del25 NP_001394895.1:p.Glu1533Glyfs frameshift NM_001407967.1:c.4592_4616del25 NP_001394896.1:p.Glu1532Glyfs frameshift NM_001407968.1:c.2879_2903del25 NP_001394897.1:p.Glu961Glyfs frameshift NM_001407969.1:c.2876_2900del25 NP_001394898.1:p.Glu960Glyfs frameshift NM_001407970.1:c.2240_2264del25 NP_001394899.1:p.Glu748Glyfs frameshift NM_001407971.1:c.2240_2264del25 NP_001394900.1:p.Glu748Glyfs frameshift NM_001407972.1:c.2237_2261del25 NP_001394901.1:p.Glu747Glyfs frameshift NM_001407973.1:c.2174_2198del25 NP_001394902.1:p.Glu726Glyfs frameshift NM_001407974.1:c.2174_2198del25 NP_001394903.1:p.Glu726Glyfs frameshift NM_001407975.1:c.2174_2198del25 NP_001394904.1:p.Glu726Glyfs frameshift NM_001407976.1:c.2174_2198del25 NP_001394905.1:p.Glu726Glyfs frameshift NM_001407977.1:c.2174_2198del25 NP_001394906.1:p.Glu726Glyfs frameshift NM_001407978.1:c.2174_2198del25 NP_001394907.1:p.Glu726Glyfs frameshift NM_001407979.1:c.2171_2195del25 NP_001394908.1:p.Glu725Glyfs frameshift NM_001407980.1:c.2171_2195del25 NP_001394909.1:p.Glu725Glyfs frameshift NM_001407981.1:c.2171_2195del25 NP_001394910.1:p.Glu725Glyfs frameshift NM_001407982.1:c.2171_2195del25 NP_001394911.1:p.Glu725Glyfs frameshift NM_001407983.1:c.2171_2195del25 NP_001394912.1:p.Glu725Glyfs frameshift NM_001407984.1:c.2171_2195del25 NP_001394913.1:p.Glu725Glyfs frameshift NM_001407985.1:c.2171_2195del25 NP_001394914.1:p.Glu725Glyfs frameshift NM_001407986.1:c.2171_2195del25 NP_001394915.1:p.Glu725Glyfs frameshift NM_001407990.1:c.2171_2195del25 NP_001394919.1:p.Glu725Glyfs frameshift NM_001407991.1:c.2171_2195del25 NP_001394920.1:p.Glu725Glyfs frameshift NM_001407992.1:c.2171_2195del25 NP_001394921.1:p.Glu725Glyfs frameshift NM_001407993.1:c.2171_2195del25 NP_001394922.1:p.Glu725Glyfs frameshift NM_001408392.1:c.2168_2192del25 NP_001395321.1:p.Glu724Glyfs frameshift NM_001408396.1:c.2168_2192del25 NP_001395325.1:p.Glu724Glyfs frameshift NM_001408397.1:c.2168_2192del25 NP_001395326.1:p.Glu724Glyfs frameshift NM_001408398.1:c.2168_2192del25 NP_001395327.1:p.Glu724Glyfs frameshift NM_001408399.1:c.2168_2192del25 NP_001395328.1:p.Glu724Glyfs frameshift NM_001408400.1:c.2168_2192del25 NP_001395329.1:p.Glu724Glyfs frameshift NM_001408401.1:c.2168_2192del25 NP_001395330.1:p.Glu724Glyfs frameshift NM_001408402.1:c.2168_2192del25 NP_001395331.1:p.Glu724Glyfs frameshift NM_001408403.1:c.2168_2192del25 NP_001395332.1:p.Glu724Glyfs frameshift NM_001408404.1:c.2168_2192del25 NP_001395333.1:p.Glu724Glyfs frameshift NM_001408406.1:c.2165_2189del25 NP_001395335.1:p.Glu723Glyfs frameshift NM_001408407.1:c.2165_2189del25 NP_001395336.1:p.Glu723Glyfs frameshift NM_001408408.1:c.2165_2189del25 NP_001395337.1:p.Glu723Glyfs frameshift NM_001408409.1:c.2162_2186del25 NP_001395338.1:p.Glu722Glyfs frameshift NM_001408410.1:c.2099_2123del25 NP_001395339.1:p.Glu701Glyfs frameshift NM_001408411.1:c.2096_2120del25 NP_001395340.1:p.Glu700Glyfs frameshift NM_001408412.1:c.2093_2117del25 NP_001395341.1:p.Glu699Glyfs frameshift NM_001408413.1:c.2093_2117del25 NP_001395342.1:p.Glu699Glyfs frameshift NM_001408414.1:c.2093_2117del25 NP_001395343.1:p.Glu699Glyfs frameshift NM_001408415.1:c.2093_2117del25 NP_001395344.1:p.Glu699Glyfs frameshift NM_001408416.1:c.2093_2117del25 NP_001395345.1:p.Glu699Glyfs frameshift NM_001408418.1:c.2057_2081del25 NP_001395347.1:p.Glu687Glyfs frameshift NM_001408419.1:c.2057_2081del25 NP_001395348.1:p.Glu687Glyfs frameshift NM_001408420.1:c.2057_2081del25 NP_001395349.1:p.Glu687Glyfs frameshift NM_001408421.1:c.2054_2078del25 NP_001395350.1:p.Glu686Glyfs frameshift NM_001408422.1:c.2054_2078del25 NP_001395351.1:p.Glu686Glyfs frameshift NM_001408423.1:c.2054_2078del25 NP_001395352.1:p.Glu686Glyfs frameshift NM_001408424.1:c.2054_2078del25 NP_001395353.1:p.Glu686Glyfs frameshift NM_001408425.1:c.2051_2075del25 NP_001395354.1:p.Glu685Glyfs frameshift NM_001408426.1:c.2051_2075del25 NP_001395355.1:p.Glu685Glyfs frameshift NM_001408427.1:c.2051_2075del25 NP_001395356.1:p.Glu685Glyfs frameshift NM_001408428.1:c.2051_2075del25 NP_001395357.1:p.Glu685Glyfs frameshift NM_001408429.1:c.2051_2075del25 NP_001395358.1:p.Glu685Glyfs frameshift NM_001408430.1:c.2051_2075del25 NP_001395359.1:p.Glu685Glyfs frameshift NM_001408431.1:c.2051_2075del25 NP_001395360.1:p.Glu685Glyfs frameshift NM_001408432.1:c.2048_2072del25 NP_001395361.1:p.Glu684Glyfs frameshift NM_001408433.1:c.2048_2072del25 NP_001395362.1:p.Glu684Glyfs frameshift NM_001408434.1:c.2048_2072del25 NP_001395363.1:p.Glu684Glyfs frameshift NM_001408435.1:c.2048_2072del25 NP_001395364.1:p.Glu684Glyfs frameshift NM_001408436.1:c.2048_2072del25 NP_001395365.1:p.Glu684Glyfs frameshift NM_001408437.1:c.2048_2072del25 NP_001395366.1:p.Glu684Glyfs frameshift NM_001408438.1:c.2048_2072del25 NP_001395367.1:p.Glu684Glyfs frameshift NM_001408439.1:c.2048_2072del25 NP_001395368.1:p.Glu684Glyfs frameshift NM_001408440.1:c.2048_2072del25 NP_001395369.1:p.Glu684Glyfs frameshift NM_001408441.1:c.2048_2072del25 NP_001395370.1:p.Glu684Glyfs frameshift NM_001408442.1:c.2048_2072del25 NP_001395371.1:p.Glu684Glyfs frameshift NM_001408443.1:c.2048_2072del25 NP_001395372.1:p.Glu684Glyfs frameshift NM_001408444.1:c.2048_2072del25 NP_001395373.1:p.Glu684Glyfs frameshift NM_001408445.1:c.2045_2069del25 NP_001395374.1:p.Glu683Glyfs frameshift NM_001408446.1:c.2045_2069del25 NP_001395375.1:p.Glu683Glyfs frameshift NM_001408447.1:c.2045_2069del25 NP_001395376.1:p.Glu683Glyfs frameshift NM_001408448.1:c.2045_2069del25 NP_001395377.1:p.Glu683Glyfs frameshift NM_001408450.1:c.2045_2069del25 NP_001395379.1:p.Glu683Glyfs frameshift NM_001408451.1:c.2039_2063del25 NP_001395380.1:p.Glu681Glyfs frameshift NM_001408452.1:c.2033_2057del25 NP_001395381.1:p.Glu679Glyfs frameshift NM_001408453.1:c.2033_2057del25 NP_001395382.1:p.Glu679Glyfs frameshift NM_001408454.1:c.2033_2057del25 NP_001395383.1:p.Glu679Glyfs frameshift NM_001408455.1:c.2033_2057del25 NP_001395384.1:p.Glu679Glyfs frameshift NM_001408456.1:c.2033_2057del25 NP_001395385.1:p.Glu679Glyfs frameshift NM_001408457.1:c.2033_2057del25 NP_001395386.1:p.Glu679Glyfs frameshift NM_001408458.1:c.2030_2054del25 NP_001395387.1:p.Glu678Glyfs frameshift NM_001408459.1:c.2030_2054del25 NP_001395388.1:p.Glu678Glyfs frameshift NM_001408460.1:c.2030_2054del25 NP_001395389.1:p.Glu678Glyfs frameshift NM_001408461.1:c.2030_2054del25 NP_001395390.1:p.Glu678Glyfs frameshift NM_001408462.1:c.2030_2054del25 NP_001395391.1:p.Glu678Glyfs frameshift NM_001408463.1:c.2030_2054del25 NP_001395392.1:p.Glu678Glyfs frameshift NM_001408464.1:c.2030_2054del25 NP_001395393.1:p.Glu678Glyfs frameshift NM_001408465.1:c.2030_2054del25 NP_001395394.1:p.Glu678Glyfs frameshift NM_001408466.1:c.2030_2054del25 NP_001395395.1:p.Glu678Glyfs frameshift NM_001408467.1:c.2030_2054del25 NP_001395396.1:p.Glu678Glyfs frameshift NM_001408468.1:c.2027_2051del25 NP_001395397.1:p.Glu677Glyfs frameshift NM_001408469.1:c.2027_2051del25 NP_001395398.1:p.Glu677Glyfs frameshift NM_001408470.1:c.2027_2051del25 NP_001395399.1:p.Glu677Glyfs frameshift NM_001408472.1:c.2097_*21del25 NP_001395401.1:p.Val699_Ter(700_?)(?) frameshift NM_001408473.1:c.2094_*21del25 NP_001395402.1:p.Val698_Ter(699_?)(?) frameshift NM_001408474.1:c.1973_1997del25 NP_001395403.1:p.Glu659Glyfs frameshift NM_001408475.1:c.1970_1994del25 NP_001395404.1:p.Glu658Glyfs frameshift NM_001408476.1:c.1970_1994del25 NP_001395405.1:p.Glu658Glyfs frameshift NM_001408478.1:c.1964_1988del25 NP_001395407.1:p.Glu656Glyfs frameshift NM_001408479.1:c.1964_1988del25 NP_001395408.1:p.Glu656Glyfs frameshift NM_001408480.1:c.1964_1988del25 NP_001395409.1:p.Glu656Glyfs frameshift NM_001408481.1:c.1961_1985del25 NP_001395410.1:p.Glu655Glyfs frameshift NM_001408482.1:c.1961_1985del25 NP_001395411.1:p.Glu655Glyfs frameshift NM_001408483.1:c.1961_1985del25 NP_001395412.1:p.Glu655Glyfs frameshift NM_001408484.1:c.1961_1985del25 NP_001395413.1:p.Glu655Glyfs frameshift NM_001408485.1:c.1961_1985del25 NP_001395414.1:p.Glu655Glyfs frameshift NM_001408489.1:c.1961_1985del25 NP_001395418.1:p.Glu655Glyfs frameshift NM_001408490.1:c.1961_1985del25 NP_001395419.1:p.Glu655Glyfs frameshift NM_001408491.1:c.1961_1985del25 NP_001395420.1:p.Glu655Glyfs frameshift NM_001408492.1:c.1958_1982del25 NP_001395421.1:p.Glu654Glyfs frameshift NM_001408493.1:c.1958_1982del25 NP_001395422.1:p.Glu654Glyfs frameshift NM_001408494.1:c.1934_1958del25 NP_001395423.1:p.Glu646Glyfs frameshift NM_001408495.1:c.1928_1952del25 NP_001395424.1:p.Glu644Glyfs frameshift NM_001408496.1:c.1910_1934del25 NP_001395425.1:p.Glu638Glyfs frameshift NM_001408497.1:c.1910_1934del25 NP_001395426.1:p.Glu638Glyfs frameshift NM_001408498.1:c.1910_1934del25 NP_001395427.1:p.Glu638Glyfs frameshift NM_001408499.1:c.1910_1934del25 NP_001395428.1:p.Glu638Glyfs frameshift NM_001408500.1:c.1910_1934del25 NP_001395429.1:p.Glu638Glyfs frameshift NM_001408501.1:c.1910_1934del25 NP_001395430.1:p.Glu638Glyfs frameshift NM_001408502.1:c.1907_1931del25 NP_001395431.1:p.Glu637Glyfs frameshift NM_001408503.1:c.1907_1931del25 NP_001395432.1:p.Glu637Glyfs frameshift NM_001408504.1:c.1907_1931del25 NP_001395433.1:p.Glu637Glyfs frameshift NM_001408505.1:c.1904_1928del25 NP_001395434.1:p.Glu636Glyfs frameshift NM_001408506.1:c.1847_1871del25 NP_001395435.1:p.Glu617Glyfs frameshift NM_001408507.1:c.1844_1868del25 NP_001395436.1:p.Glu616Glyfs frameshift NM_001408508.1:c.1835_1859del25 NP_001395437.1:p.Glu613Glyfs frameshift NM_001408509.1:c.1832_1856del25 NP_001395438.1:p.Glu612Glyfs frameshift NM_001408510.1:c.1793_1817del25 NP_001395439.1:p.Glu599Glyfs frameshift NM_001408511.1:c.1790_1814del25 NP_001395440.1:p.Glu598Glyfs frameshift NM_001408512.1:c.1670_1694del25 NP_001395441.1:p.Glu558Glyfs frameshift NM_001408513.1:c.1643_1667del25 NP_001395442.1:p.Glu549Glyfs frameshift NM_001408514.1:c.1247_1271del25 NP_001395443.1:p.Glu417Glyfs frameshift NM_007294.3:c.5483_5507del25 NP_009225.1:p.Glu1829Glyfs frameshift NM_007297.4:c.5345_5369del NP_009228.2:p.Glu1782fs frameshift NM_007298.4:c.2171_2195del25 NP_009229.2:p.Glu725Glyfs frameshift NM_007299.4:c.2100_*24del NP_009230.2:p.Ter700TrpextTer? frameshift stop lost NM_007300.4:c.5549_5573del NP_009231.2:p.Glu1850fs frameshift NM_007304.2:c.2171_2195del25 NP_009235.2:p.Glu725Glyfs frameshift NR_027676.2:n.5663_5687del non-coding transcript variant NC_000017.11:g.43045763_43045787del NC_000017.10:g.41197780_41197804del NG_005905.2:g.172200_172224del LRG_292:g.172200_172224del LRG_292t1:c.5486_5510del LRG_292p1:p.Glu1829fs - Protein change
- E1782fs, E1829fs, E1850fs, E725fs
- Other names
- 5605del25
- Canonical SPDI
- NC_000017.11:43045759:CACTCTCGGGTCACCACAGGTGCCTCAC:CAC
-
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
|
Oct 18, 2016 | RCV000256661.6 |
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
(Oct 18, 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: SCV000323878.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
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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: SCV000326335.4
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 rs886040297 ...
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.