ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5537_5556del (p.Gln1846fs)
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.5537_5556del (p.Gln1846fs)
Variation ID: 266561 Accession: VCV000266561.6
- Type and length
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Deletion, 20 bp
- Location
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Cytogenetic: 17q21.31 17: 41197731-41197750 (GRCh37) [ NCBI UCSC ] 17: 43045714-43045733 (GRCh38) [ 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.5537_5556del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1846fs frameshift NM_001407571.1:c.5321_5340del20 NP_001394500.1:p.Gln1775Leufs frameshift NM_001407581.1:c.5600_5619del20 NP_001394510.1:p.Gln1868Leufs frameshift NM_001407582.1:c.5600_5619del20 NP_001394511.1:p.Gln1868Leufs frameshift NM_001407583.1:c.5597_5616del20 NP_001394512.1:p.Gln1867Leufs frameshift NM_001407585.1:c.5597_5616del20 NP_001394514.1:p.Gln1867Leufs frameshift NM_001407587.1:c.5597_5616del20 NP_001394516.1:p.Gln1867Leufs frameshift NM_001407590.1:c.5594_5613del20 NP_001394519.1:p.Gln1866Leufs frameshift NM_001407591.1:c.5594_5613del20 NP_001394520.1:p.Gln1866Leufs frameshift NM_001407593.1:c.5534_5553del20 NP_001394522.1:p.Gln1846Leufs frameshift NM_001407594.1:c.5534_5553del20 NP_001394523.1:p.Gln1846Leufs frameshift NM_001407596.1:c.5534_5553del20 NP_001394525.1:p.Gln1846Leufs frameshift NM_001407597.1:c.5534_5553del20 NP_001394526.1:p.Gln1846Leufs frameshift NM_001407598.1:c.5534_5553del20 NP_001394527.1:p.Gln1846Leufs frameshift NM_001407602.1:c.5534_5553del20 NP_001394531.1:p.Gln1846Leufs frameshift NM_001407603.1:c.5534_5553del20 NP_001394532.1:p.Gln1846Leufs frameshift NM_001407605.1:c.5534_5553del20 NP_001394534.1:p.Gln1846Leufs frameshift NM_001407610.1:c.5531_5550del20 NP_001394539.1:p.Gln1845Leufs frameshift NM_001407611.1:c.5531_5550del20 NP_001394540.1:p.Gln1845Leufs frameshift NM_001407612.1:c.5531_5550del20 NP_001394541.1:p.Gln1845Leufs frameshift NM_001407613.1:c.5531_5550del20 NP_001394542.1:p.Gln1845Leufs frameshift NM_001407614.1:c.5531_5550del20 NP_001394543.1:p.Gln1845Leufs frameshift NM_001407615.1:c.5531_5550del20 NP_001394544.1:p.Gln1845Leufs frameshift NM_001407616.1:c.5531_5550del20 NP_001394545.1:p.Gln1845Leufs frameshift NM_001407617.1:c.5531_5550del20 NP_001394546.1:p.Gln1845Leufs frameshift NM_001407618.1:c.5531_5550del20 NP_001394547.1:p.Gln1845Leufs frameshift NM_001407619.1:c.5531_5550del20 NP_001394548.1:p.Gln1845Leufs frameshift NM_001407620.1:c.5531_5550del20 NP_001394549.1:p.Gln1845Leufs frameshift NM_001407621.1:c.5531_5550del20 NP_001394550.1:p.Gln1845Leufs frameshift NM_001407622.1:c.5531_5550del20 NP_001394551.1:p.Gln1845Leufs frameshift NM_001407623.1:c.5531_5550del20 NP_001394552.1:p.Gln1845Leufs frameshift NM_001407624.1:c.5531_5550del20 NP_001394553.1:p.Gln1845Leufs frameshift NM_001407625.1:c.5531_5550del20 NP_001394554.1:p.Gln1845Leufs frameshift NM_001407626.1:c.5531_5550del20 NP_001394555.1:p.Gln1845Leufs frameshift NM_001407627.1:c.5528_5547del20 NP_001394556.1:p.Gln1844Leufs frameshift NM_001407628.1:c.5528_5547del20 NP_001394557.1:p.Gln1844Leufs frameshift NM_001407629.1:c.5528_5547del20 NP_001394558.1:p.Gln1844Leufs frameshift NM_001407630.1:c.5528_5547del20 NP_001394559.1:p.Gln1844Leufs frameshift NM_001407631.1:c.5528_5547del20 NP_001394560.1:p.Gln1844Leufs frameshift NM_001407632.1:c.5528_5547del20 NP_001394561.1:p.Gln1844Leufs frameshift NM_001407633.1:c.5528_5547del20 NP_001394562.1:p.Gln1844Leufs frameshift NM_001407634.1:c.5528_5547del20 NP_001394563.1:p.Gln1844Leufs frameshift NM_001407635.1:c.5528_5547del20 NP_001394564.1:p.Gln1844Leufs frameshift NM_001407636.1:c.5528_5547del20 NP_001394565.1:p.Gln1844Leufs frameshift NM_001407637.1:c.5528_5547del20 NP_001394566.1:p.Gln1844Leufs frameshift NM_001407638.1:c.5528_5547del20 NP_001394567.1:p.Gln1844Leufs frameshift NM_001407639.1:c.5528_5547del20 NP_001394568.1:p.Gln1844Leufs frameshift NM_001407640.1:c.5528_5547del20 NP_001394569.1:p.Gln1844Leufs frameshift NM_001407641.1:c.5528_5547del20 NP_001394570.1:p.Gln1844Leufs frameshift NM_001407642.1:c.5528_5547del20 NP_001394571.1:p.Gln1844Leufs frameshift NM_001407644.1:c.5525_5544del20 NP_001394573.1:p.Gln1843Leufs frameshift NM_001407645.1:c.5525_5544del20 NP_001394574.1:p.Gln1843Leufs frameshift NM_001407646.1:c.5522_5541del20 NP_001394575.1:p.Gln1842Leufs frameshift NM_001407647.1:c.5519_5538del20 NP_001394576.1:p.Gln1841Leufs frameshift NM_001407648.1:c.5477_5496del20 NP_001394577.1:p.Gln1827Leufs frameshift NM_001407649.1:c.5474_5493del20 NP_001394578.1:p.Gln1826Leufs frameshift NM_001407652.1:c.5456_5475del20 NP_001394581.1:p.Gln1820Leufs frameshift NM_001407653.1:c.5456_5475del20 NP_001394582.1:p.Gln1820Leufs frameshift NM_001407654.1:c.5456_5475del20 NP_001394583.1:p.Gln1820Leufs frameshift NM_001407655.1:c.5456_5475del20 NP_001394584.1:p.Gln1820Leufs frameshift NM_001407656.1:c.5453_5472del20 NP_001394585.1:p.Gln1819Leufs frameshift NM_001407657.1:c.5453_5472del20 NP_001394586.1:p.Gln1819Leufs frameshift NM_001407658.1:c.5453_5472del20 NP_001394587.1:p.Gln1819Leufs frameshift NM_001407659.1:c.5450_5469del20 NP_001394588.1:p.Gln1818Leufs frameshift NM_001407660.1:c.5450_5469del20 NP_001394589.1:p.Gln1818Leufs frameshift NM_001407661.1:c.5450_5469del20 NP_001394590.1:p.Gln1818Leufs frameshift NM_001407662.1:c.5450_5469del20 NP_001394591.1:p.Gln1818Leufs frameshift NM_001407663.1:c.5450_5469del20 NP_001394592.1:p.Gln1818Leufs frameshift NM_001407664.1:c.5411_5430del20 NP_001394593.1:p.Gln1805Leufs frameshift NM_001407665.1:c.5411_5430del20 NP_001394594.1:p.Gln1805Leufs frameshift NM_001407666.1:c.5411_5430del20 NP_001394595.1:p.Gln1805Leufs frameshift NM_001407667.1:c.5411_5430del20 NP_001394596.1:p.Gln1805Leufs frameshift NM_001407668.1:c.5411_5430del20 NP_001394597.1:p.Gln1805Leufs frameshift NM_001407669.1:c.5411_5430del20 NP_001394598.1:p.Gln1805Leufs frameshift NM_001407670.1:c.5408_5427del20 NP_001394599.1:p.Gln1804Leufs frameshift NM_001407671.1:c.5408_5427del20 NP_001394600.1:p.Gln1804Leufs frameshift NM_001407672.1:c.5408_5427del20 NP_001394601.1:p.Gln1804Leufs frameshift NM_001407673.1:c.5408_5427del20 NP_001394602.1:p.Gln1804Leufs frameshift NM_001407674.1:c.5408_5427del20 NP_001394603.1:p.Gln1804Leufs frameshift NM_001407675.1:c.5408_5427del20 NP_001394604.1:p.Gln1804Leufs frameshift NM_001407676.1:c.5408_5427del20 NP_001394605.1:p.Gln1804Leufs frameshift NM_001407677.1:c.5408_5427del20 NP_001394606.1:p.Gln1804Leufs frameshift NM_001407678.1:c.5408_5427del20 NP_001394607.1:p.Gln1804Leufs frameshift NM_001407679.1:c.5408_5427del20 NP_001394608.1:p.Gln1804Leufs frameshift NM_001407680.1:c.5408_5427del20 NP_001394609.1:p.Gln1804Leufs frameshift NM_001407681.1:c.5405_5424del20 NP_001394610.1:p.Gln1803Leufs frameshift NM_001407682.1:c.5405_5424del20 NP_001394611.1:p.Gln1803Leufs frameshift NM_001407683.1:c.5405_5424del20 NP_001394612.1:p.Gln1803Leufs frameshift NM_001407684.1:c.5405_5424del20 NP_001394613.1:p.Gln1803Leufs frameshift NM_001407685.1:c.5405_5424del20 NP_001394614.1:p.Gln1803Leufs frameshift NM_001407686.1:c.5405_5424del20 NP_001394615.1:p.Gln1803Leufs frameshift NM_001407687.1:c.5405_5424del20 NP_001394616.1:p.Gln1803Leufs frameshift NM_001407688.1:c.5405_5424del20 NP_001394617.1:p.Gln1803Leufs frameshift NM_001407689.1:c.5405_5424del20 NP_001394618.1:p.Gln1803Leufs frameshift NM_001407690.1:c.5402_5421del20 NP_001394619.1:p.Gln1802Leufs frameshift NM_001407691.1:c.5402_5421del20 NP_001394620.1:p.Gln1802Leufs frameshift NM_001407692.1:c.5393_5412del20 NP_001394621.1:p.Gln1799Leufs frameshift NM_001407694.1:c.5393_5412del20 NP_001394623.1:p.Gln1799Leufs frameshift NM_001407695.1:c.5393_5412del20 NP_001394624.1:p.Gln1799Leufs frameshift NM_001407696.1:c.5393_5412del20 NP_001394625.1:p.Gln1799Leufs frameshift NM_001407697.1:c.5393_5412del20 NP_001394626.1:p.Gln1799Leufs frameshift NM_001407698.1:c.5393_5412del20 NP_001394627.1:p.Gln1799Leufs frameshift NM_001407724.1:c.5393_5412del20 NP_001394653.1:p.Gln1799Leufs frameshift NM_001407725.1:c.5393_5412del20 NP_001394654.1:p.Gln1799Leufs frameshift NM_001407726.1:c.5393_5412del20 NP_001394655.1:p.Gln1799Leufs frameshift NM_001407727.1:c.5393_5412del20 NP_001394656.1:p.Gln1799Leufs frameshift NM_001407728.1:c.5393_5412del20 NP_001394657.1:p.Gln1799Leufs frameshift NM_001407729.1:c.5393_5412del20 NP_001394658.1:p.Gln1799Leufs frameshift NM_001407730.1:c.5393_5412del20 NP_001394659.1:p.Gln1799Leufs frameshift NM_001407731.1:c.5393_5412del20 NP_001394660.1:p.Gln1799Leufs frameshift NM_001407732.1:c.5390_5409del20 NP_001394661.1:p.Gln1798Leufs frameshift NM_001407733.1:c.5390_5409del20 NP_001394662.1:p.Gln1798Leufs frameshift NM_001407734.1:c.5390_5409del20 NP_001394663.1:p.Gln1798Leufs frameshift NM_001407735.1:c.5390_5409del20 NP_001394664.1:p.Gln1798Leufs frameshift NM_001407736.1:c.5390_5409del20 NP_001394665.1:p.Gln1798Leufs frameshift NM_001407737.1:c.5390_5409del20 NP_001394666.1:p.Gln1798Leufs frameshift NM_001407738.1:c.5390_5409del20 NP_001394667.1:p.Gln1798Leufs frameshift NM_001407739.1:c.5390_5409del20 NP_001394668.1:p.Gln1798Leufs frameshift NM_001407740.1:c.5390_5409del20 NP_001394669.1:p.Gln1798Leufs frameshift NM_001407741.1:c.5390_5409del20 NP_001394670.1:p.Gln1798Leufs frameshift NM_001407742.1:c.5390_5409del20 NP_001394671.1:p.Gln1798Leufs frameshift NM_001407743.1:c.5390_5409del20 NP_001394672.1:p.Gln1798Leufs frameshift NM_001407744.1:c.5390_5409del20 NP_001394673.1:p.Gln1798Leufs frameshift NM_001407745.1:c.5390_5409del20 NP_001394674.1:p.Gln1798Leufs frameshift NM_001407746.1:c.5390_5409del20 NP_001394675.1:p.Gln1798Leufs frameshift NM_001407747.1:c.5390_5409del20 NP_001394676.1:p.Gln1798Leufs frameshift NM_001407748.1:c.5390_5409del20 NP_001394677.1:p.Gln1798Leufs frameshift NM_001407749.1:c.5390_5409del20 NP_001394678.1:p.Gln1798Leufs frameshift NM_001407750.1:c.5390_5409del20 NP_001394679.1:p.Gln1798Leufs frameshift NM_001407751.1:c.5390_5409del20 NP_001394680.1:p.Gln1798Leufs frameshift NM_001407752.1:c.5390_5409del20 NP_001394681.1:p.Gln1798Leufs frameshift NM_001407838.1:c.5387_5406del20 NP_001394767.1:p.Gln1797Leufs frameshift NM_001407839.1:c.5387_5406del20 NP_001394768.1:p.Gln1797Leufs frameshift NM_001407841.1:c.5387_5406del20 NP_001394770.1:p.Gln1797Leufs frameshift NM_001407842.1:c.5387_5406del20 NP_001394771.1:p.Gln1797Leufs frameshift NM_001407843.1:c.5387_5406del20 NP_001394772.1:p.Gln1797Leufs frameshift NM_001407844.1:c.5387_5406del20 NP_001394773.1:p.Gln1797Leufs frameshift NM_001407845.1:c.5387_5406del20 NP_001394774.1:p.Gln1797Leufs frameshift NM_001407846.1:c.5387_5406del20 NP_001394775.1:p.Gln1797Leufs frameshift NM_001407847.1:c.5387_5406del20 NP_001394776.1:p.Gln1797Leufs frameshift NM_001407848.1:c.5387_5406del20 NP_001394777.1:p.Gln1797Leufs frameshift NM_001407849.1:c.5387_5406del20 NP_001394778.1:p.Gln1797Leufs frameshift NM_001407850.1:c.5387_5406del20 NP_001394779.1:p.Gln1797Leufs frameshift NM_001407851.1:c.5387_5406del20 NP_001394780.1:p.Gln1797Leufs frameshift NM_001407852.1:c.5387_5406del20 NP_001394781.1:p.Gln1797Leufs frameshift NM_001407853.1:c.5387_5406del20 NP_001394782.1:p.Gln1797Leufs frameshift NM_001407854.1:c.*48_*67del20 NM_001407858.1:c.*48_*67del20 NM_001407859.1:c.*48_*67del20 NM_001407860.1:c.*48_*67del20 NM_001407861.1:c.*48_*67del20 NM_001407862.1:c.5333_5352del20 NP_001394791.1:p.Gln1779Leufs frameshift NM_001407863.1:c.5330_5349del20 NP_001394792.1:p.Gln1778Leufs frameshift NM_001407874.1:c.5327_5346del20 NP_001394803.1:p.Gln1777Leufs frameshift NM_001407875.1:c.5327_5346del20 NP_001394804.1:p.Gln1777Leufs frameshift NM_001407879.1:c.5324_5343del20 NP_001394808.1:p.Gln1776Leufs frameshift NM_001407881.1:c.5324_5343del20 NP_001394810.1:p.Gln1776Leufs frameshift NM_001407882.1:c.5324_5343del20 NP_001394811.1:p.Gln1776Leufs frameshift NM_001407884.1:c.5324_5343del20 NP_001394813.1:p.Gln1776Leufs frameshift NM_001407885.1:c.5324_5343del20 NP_001394814.1:p.Gln1776Leufs frameshift NM_001407886.1:c.5324_5343del20 NP_001394815.1:p.Gln1776Leufs frameshift NM_001407887.1:c.5324_5343del20 NP_001394816.1:p.Gln1776Leufs frameshift NM_001407889.1:c.5324_5343del20 NP_001394818.1:p.Gln1776Leufs frameshift NM_001407894.1:c.5321_5340del20 NP_001394823.1:p.Gln1775Leufs frameshift NM_001407895.1:c.5321_5340del20 NP_001394824.1:p.Gln1775Leufs frameshift NM_001407896.1:c.5321_5340del20 NP_001394825.1:p.Gln1775Leufs frameshift NM_001407897.1:c.5321_5340del20 NP_001394826.1:p.Gln1775Leufs frameshift NM_001407898.1:c.5321_5340del20 NP_001394827.1:p.Gln1775Leufs frameshift NM_001407899.1:c.5321_5340del20 NP_001394828.1:p.Gln1775Leufs frameshift NM_001407900.1:c.5321_5340del20 NP_001394829.1:p.Gln1775Leufs frameshift NM_001407902.1:c.5321_5340del20 NP_001394831.1:p.Gln1775Leufs frameshift NM_001407904.1:c.5321_5340del20 NP_001394833.1:p.Gln1775Leufs frameshift NM_001407906.1:c.5321_5340del20 NP_001394835.1:p.Gln1775Leufs frameshift NM_001407907.1:c.5321_5340del20 NP_001394836.1:p.Gln1775Leufs frameshift NM_001407908.1:c.5321_5340del20 NP_001394837.1:p.Gln1775Leufs frameshift NM_001407909.1:c.5321_5340del20 NP_001394838.1:p.Gln1775Leufs frameshift NM_001407910.1:c.5321_5340del20 NP_001394839.1:p.Gln1775Leufs frameshift NM_001407915.1:c.5318_5337del20 NP_001394844.1:p.Gln1774Leufs frameshift NM_001407916.1:c.5318_5337del20 NP_001394845.1:p.Gln1774Leufs frameshift NM_001407917.1:c.5318_5337del20 NP_001394846.1:p.Gln1774Leufs frameshift NM_001407918.1:c.5318_5337del20 NP_001394847.1:p.Gln1774Leufs frameshift NM_001407919.1:c.5282_5301del20 NP_001394848.1:p.Gln1762Leufs frameshift NM_001407920.1:c.5270_5289del20 NP_001394849.1:p.Gln1758Leufs frameshift NM_001407921.1:c.5270_5289del20 NP_001394850.1:p.Gln1758Leufs frameshift NM_001407922.1:c.5270_5289del20 NP_001394851.1:p.Gln1758Leufs frameshift NM_001407923.1:c.5270_5289del20 NP_001394852.1:p.Gln1758Leufs frameshift NM_001407924.1:c.5270_5289del20 NP_001394853.1:p.Gln1758Leufs frameshift NM_001407925.1:c.5270_5289del20 NP_001394854.1:p.Gln1758Leufs frameshift NM_001407926.1:c.5270_5289del20 NP_001394855.1:p.Gln1758Leufs frameshift NM_001407927.1:c.5267_5286del20 NP_001394856.1:p.Gln1757Leufs frameshift NM_001407928.1:c.5267_5286del20 NP_001394857.1:p.Gln1757Leufs frameshift NM_001407929.1:c.5267_5286del20 NP_001394858.1:p.Gln1757Leufs frameshift NM_001407930.1:c.5267_5286del20 NP_001394859.1:p.Gln1757Leufs frameshift NM_001407931.1:c.5267_5286del20 NP_001394860.1:p.Gln1757Leufs frameshift NM_001407932.1:c.5267_5286del20 NP_001394861.1:p.Gln1757Leufs frameshift NM_001407933.1:c.5267_5286del20 NP_001394862.1:p.Gln1757Leufs frameshift NM_001407934.1:c.5264_5283del20 NP_001394863.1:p.Gln1756Leufs frameshift NM_001407935.1:c.5264_5283del20 NP_001394864.1:p.Gln1756Leufs frameshift NM_001407936.1:c.5264_5283del20 NP_001394865.1:p.Gln1756Leufs frameshift NM_001407937.1:c.*48_*67del20 NM_001407938.1:c.*48_*67del20 NM_001407939.1:c.*48_*67del20 NM_001407940.1:c.*48_*67del20 NM_001407941.1:c.*48_*67del20 NM_001407942.1:c.*48_*67del20 NM_001407943.1:c.*48_*67del20 NM_001407944.1:c.*48_*67del20 NM_001407945.1:c.*48_*67del20 NM_001407946.1:c.5201_5220del20 NP_001394875.1:p.Gln1735Leufs frameshift NM_001407947.1:c.5201_5220del20 NP_001394876.1:p.Gln1735Leufs frameshift NM_001407948.1:c.5201_5220del20 NP_001394877.1:p.Gln1735Leufs frameshift NM_001407949.1:c.5201_5220del20 NP_001394878.1:p.Gln1735Leufs frameshift NM_001407950.1:c.5198_5217del20 NP_001394879.1:p.Gln1734Leufs frameshift NM_001407951.1:c.5198_5217del20 NP_001394880.1:p.Gln1734Leufs frameshift NM_001407952.1:c.5198_5217del20 NP_001394881.1:p.Gln1734Leufs frameshift NM_001407953.1:c.5198_5217del20 NP_001394882.1:p.Gln1734Leufs frameshift NM_001407954.1:c.5198_5217del20 NP_001394883.1:p.Gln1734Leufs frameshift NM_001407955.1:c.5198_5217del20 NP_001394884.1:p.Gln1734Leufs frameshift NM_001407956.1:c.5195_5214del20 NP_001394885.1:p.Gln1733Leufs frameshift NM_001407957.1:c.5195_5214del20 NP_001394886.1:p.Gln1733Leufs frameshift NM_001407958.1:c.5195_5214del20 NP_001394887.1:p.Gln1733Leufs frameshift NM_001407959.1:c.5153_5172del20 NP_001394888.1:p.Gln1719Leufs frameshift NM_001407960.1:c.5150_5169del20 NP_001394889.1:p.Gln1718Leufs frameshift NM_001407962.1:c.5150_5169del20 NP_001394891.1:p.Gln1718Leufs frameshift NM_001407963.1:c.5147_5166del20 NP_001394892.1:p.Gln1717Leufs frameshift NM_001407964.1:c.5072_5091del20 NP_001394893.1:p.Gln1692Leufs frameshift NM_001407965.1:c.5027_5046del20 NP_001394894.1:p.Gln1677Leufs frameshift NM_001407966.1:c.4646_4665del20 NP_001394895.1:p.Gln1550Leufs frameshift NM_001407967.1:c.4643_4662del20 NP_001394896.1:p.Gln1549Leufs frameshift NM_001407968.1:c.2930_2949del20 NP_001394897.1:p.Gln978Leufs frameshift NM_001407969.1:c.2927_2946del20 NP_001394898.1:p.Gln977Leufs frameshift NM_001407970.1:c.2291_2310del20 NP_001394899.1:p.Gln765Leufs frameshift NM_001407971.1:c.2291_2310del20 NP_001394900.1:p.Gln765Leufs frameshift NM_001407972.1:c.2288_2307del20 NP_001394901.1:p.Gln764Leufs frameshift NM_001407973.1:c.2225_2244del20 NP_001394902.1:p.Gln743Leufs frameshift NM_001407974.1:c.2225_2244del20 NP_001394903.1:p.Gln743Leufs frameshift NM_001407975.1:c.2225_2244del20 NP_001394904.1:p.Gln743Leufs frameshift NM_001407976.1:c.2225_2244del20 NP_001394905.1:p.Gln743Leufs frameshift NM_001407977.1:c.2225_2244del20 NP_001394906.1:p.Gln743Leufs frameshift NM_001407978.1:c.2225_2244del20 NP_001394907.1:p.Gln743Leufs frameshift NM_001407979.1:c.2222_2241del20 NP_001394908.1:p.Gln742Leufs frameshift NM_001407980.1:c.2222_2241del20 NP_001394909.1:p.Gln742Leufs frameshift NM_001407981.1:c.2222_2241del20 NP_001394910.1:p.Gln742Leufs frameshift NM_001407982.1:c.2222_2241del20 NP_001394911.1:p.Gln742Leufs frameshift NM_001407983.1:c.2222_2241del20 NP_001394912.1:p.Gln742Leufs frameshift NM_001407984.1:c.2222_2241del20 NP_001394913.1:p.Gln742Leufs frameshift NM_001407985.1:c.2222_2241del20 NP_001394914.1:p.Gln742Leufs frameshift NM_001407986.1:c.2222_2241del20 NP_001394915.1:p.Gln742Leufs frameshift NM_001407990.1:c.2222_2241del20 NP_001394919.1:p.Gln742Leufs frameshift NM_001407991.1:c.2222_2241del20 NP_001394920.1:p.Gln742Leufs frameshift NM_001407992.1:c.2222_2241del20 NP_001394921.1:p.Gln742Leufs frameshift NM_001407993.1:c.2222_2241del20 NP_001394922.1:p.Gln742Leufs frameshift NM_001408392.1:c.2219_2238del20 NP_001395321.1:p.Gln741Leufs frameshift NM_001408396.1:c.2219_2238del20 NP_001395325.1:p.Gln741Leufs frameshift NM_001408397.1:c.2219_2238del20 NP_001395326.1:p.Gln741Leufs frameshift NM_001408398.1:c.2219_2238del20 NP_001395327.1:p.Gln741Leufs frameshift NM_001408399.1:c.2219_2238del20 NP_001395328.1:p.Gln741Leufs frameshift NM_001408400.1:c.2219_2238del20 NP_001395329.1:p.Gln741Leufs frameshift NM_001408401.1:c.2219_2238del20 NP_001395330.1:p.Gln741Leufs frameshift NM_001408402.1:c.2219_2238del20 NP_001395331.1:p.Gln741Leufs frameshift NM_001408403.1:c.2219_2238del20 NP_001395332.1:p.Gln741Leufs frameshift NM_001408404.1:c.2219_2238del20 NP_001395333.1:p.Gln741Leufs frameshift NM_001408406.1:c.2216_2235del20 NP_001395335.1:p.Gln740Leufs frameshift NM_001408407.1:c.2216_2235del20 NP_001395336.1:p.Gln740Leufs frameshift NM_001408408.1:c.2216_2235del20 NP_001395337.1:p.Gln740Leufs frameshift NM_001408409.1:c.2213_2232del20 NP_001395338.1:p.Gln739Leufs frameshift NM_001408410.1:c.2150_2169del20 NP_001395339.1:p.Gln718Leufs frameshift NM_001408411.1:c.2147_2166del20 NP_001395340.1:p.Gln717Leufs frameshift NM_001408412.1:c.2144_2163del20 NP_001395341.1:p.Gln716Leufs frameshift NM_001408413.1:c.2144_2163del20 NP_001395342.1:p.Gln716Leufs frameshift NM_001408414.1:c.2144_2163del20 NP_001395343.1:p.Gln716Leufs frameshift NM_001408415.1:c.2144_2163del20 NP_001395344.1:p.Gln716Leufs frameshift NM_001408416.1:c.2144_2163del20 NP_001395345.1:p.Gln716Leufs frameshift NM_001408418.1:c.2108_2127del20 NP_001395347.1:p.Gln704Leufs frameshift NM_001408419.1:c.2108_2127del20 NP_001395348.1:p.Gln704Leufs frameshift NM_001408420.1:c.2108_2127del20 NP_001395349.1:p.Gln704Leufs frameshift NM_001408421.1:c.2105_2124del20 NP_001395350.1:p.Gln703Leufs frameshift NM_001408422.1:c.2105_2124del20 NP_001395351.1:p.Gln703Leufs frameshift NM_001408423.1:c.2105_2124del20 NP_001395352.1:p.Gln703Leufs frameshift NM_001408424.1:c.2105_2124del20 NP_001395353.1:p.Gln703Leufs frameshift NM_001408425.1:c.2102_2121del20 NP_001395354.1:p.Gln702Leufs frameshift NM_001408426.1:c.2102_2121del20 NP_001395355.1:p.Gln702Leufs frameshift NM_001408427.1:c.2102_2121del20 NP_001395356.1:p.Gln702Leufs frameshift NM_001408428.1:c.2102_2121del20 NP_001395357.1:p.Gln702Leufs frameshift NM_001408429.1:c.2102_2121del20 NP_001395358.1:p.Gln702Leufs frameshift NM_001408430.1:c.2102_2121del20 NP_001395359.1:p.Gln702Leufs frameshift NM_001408431.1:c.2102_2121del20 NP_001395360.1:p.Gln702Leufs frameshift NM_001408432.1:c.2099_2118del20 NP_001395361.1:p.Gln701Leufs frameshift NM_001408433.1:c.2099_2118del20 NP_001395362.1:p.Gln701Leufs frameshift NM_001408434.1:c.2099_2118del20 NP_001395363.1:p.Gln701Leufs frameshift NM_001408435.1:c.2099_2118del20 NP_001395364.1:p.Gln701Leufs frameshift NM_001408436.1:c.2099_2118del20 NP_001395365.1:p.Gln701Leufs frameshift NM_001408437.1:c.2099_2118del20 NP_001395366.1:p.Gln701Leufs frameshift NM_001408438.1:c.2099_2118del20 NP_001395367.1:p.Gln701Leufs frameshift NM_001408439.1:c.2099_2118del20 NP_001395368.1:p.Gln701Leufs frameshift NM_001408440.1:c.2099_2118del20 NP_001395369.1:p.Gln701Leufs frameshift NM_001408441.1:c.2099_2118del20 NP_001395370.1:p.Gln701Leufs frameshift NM_001408442.1:c.2099_2118del20 NP_001395371.1:p.Gln701Leufs frameshift NM_001408443.1:c.2099_2118del20 NP_001395372.1:p.Gln701Leufs frameshift NM_001408444.1:c.2099_2118del20 NP_001395373.1:p.Gln701Leufs frameshift NM_001408445.1:c.2096_2115del20 NP_001395374.1:p.Gln700Leufs frameshift NM_001408446.1:c.2096_2115del20 NP_001395375.1:p.Gln700Leufs frameshift NM_001408447.1:c.2096_2115del20 NP_001395376.1:p.Gln700Leufs frameshift NM_001408448.1:c.2096_2115del20 NP_001395377.1:p.Gln700Leufs frameshift NM_001408450.1:c.2096_2115del20 NP_001395379.1:p.Gln700Leufs frameshift NM_001408451.1:c.2090_2109del20 NP_001395380.1:p.Gln698Leufs frameshift NM_001408452.1:c.2084_2103del20 NP_001395381.1:p.Gln696Leufs frameshift NM_001408453.1:c.2084_2103del20 NP_001395382.1:p.Gln696Leufs frameshift NM_001408454.1:c.2084_2103del20 NP_001395383.1:p.Gln696Leufs frameshift NM_001408455.1:c.2084_2103del20 NP_001395384.1:p.Gln696Leufs frameshift NM_001408456.1:c.2084_2103del20 NP_001395385.1:p.Gln696Leufs frameshift NM_001408457.1:c.2084_2103del20 NP_001395386.1:p.Gln696Leufs frameshift NM_001408458.1:c.2081_2100del20 NP_001395387.1:p.Gln695Leufs frameshift NM_001408459.1:c.2081_2100del20 NP_001395388.1:p.Gln695Leufs frameshift NM_001408460.1:c.2081_2100del20 NP_001395389.1:p.Gln695Leufs frameshift NM_001408461.1:c.2081_2100del20 NP_001395390.1:p.Gln695Leufs frameshift NM_001408462.1:c.2081_2100del20 NP_001395391.1:p.Gln695Leufs frameshift NM_001408463.1:c.2081_2100del20 NP_001395392.1:p.Gln695Leufs frameshift NM_001408464.1:c.2081_2100del20 NP_001395393.1:p.Gln695Leufs frameshift NM_001408465.1:c.2081_2100del20 NP_001395394.1:p.Gln695Leufs frameshift NM_001408466.1:c.2081_2100del20 NP_001395395.1:p.Gln695Leufs frameshift NM_001408467.1:c.2081_2100del20 NP_001395396.1:p.Gln695Leufs frameshift NM_001408468.1:c.2078_2097del20 NP_001395397.1:p.Gln694Leufs frameshift NM_001408469.1:c.2078_2097del20 NP_001395398.1:p.Gln694Leufs frameshift NM_001408470.1:c.2078_2097del20 NP_001395399.1:p.Gln694Leufs frameshift NM_001408472.1:c.*48_*67del20 NM_001408473.1:c.*48_*67del20 NM_001408474.1:c.2024_2043del20 NP_001395403.1:p.Gln676Leufs frameshift NM_001408475.1:c.2021_2040del20 NP_001395404.1:p.Gln675Leufs frameshift NM_001408476.1:c.2021_2040del20 NP_001395405.1:p.Gln675Leufs frameshift NM_001408478.1:c.2015_2034del20 NP_001395407.1:p.Gln673Leufs frameshift NM_001408479.1:c.2015_2034del20 NP_001395408.1:p.Gln673Leufs frameshift NM_001408480.1:c.2015_2034del20 NP_001395409.1:p.Gln673Leufs frameshift NM_001408481.1:c.2012_2031del20 NP_001395410.1:p.Gln672Leufs frameshift NM_001408482.1:c.2012_2031del20 NP_001395411.1:p.Gln672Leufs frameshift NM_001408483.1:c.2012_2031del20 NP_001395412.1:p.Gln672Leufs frameshift NM_001408484.1:c.2012_2031del20 NP_001395413.1:p.Gln672Leufs frameshift NM_001408485.1:c.2012_2031del20 NP_001395414.1:p.Gln672Leufs frameshift NM_001408489.1:c.2012_2031del20 NP_001395418.1:p.Gln672Leufs frameshift NM_001408490.1:c.2012_2031del20 NP_001395419.1:p.Gln672Leufs frameshift NM_001408491.1:c.2012_2031del20 NP_001395420.1:p.Gln672Leufs frameshift NM_001408492.1:c.2009_2028del20 NP_001395421.1:p.Gln671Leufs frameshift NM_001408493.1:c.2009_2028del20 NP_001395422.1:p.Gln671Leufs frameshift NM_001408494.1:c.1985_2004del20 NP_001395423.1:p.Gln663Leufs frameshift NM_001408495.1:c.1979_1998del20 NP_001395424.1:p.Gln661Leufs frameshift NM_001408496.1:c.1961_1980del20 NP_001395425.1:p.Gln655Leufs frameshift NM_001408497.1:c.1961_1980del20 NP_001395426.1:p.Gln655Leufs frameshift NM_001408498.1:c.1961_1980del20 NP_001395427.1:p.Gln655Leufs frameshift NM_001408499.1:c.1961_1980del20 NP_001395428.1:p.Gln655Leufs frameshift NM_001408500.1:c.1961_1980del20 NP_001395429.1:p.Gln655Leufs frameshift NM_001408501.1:c.1961_1980del20 NP_001395430.1:p.Gln655Leufs frameshift NM_001408502.1:c.1958_1977del20 NP_001395431.1:p.Gln654Leufs frameshift NM_001408503.1:c.1958_1977del20 NP_001395432.1:p.Gln654Leufs frameshift NM_001408504.1:c.1958_1977del20 NP_001395433.1:p.Gln654Leufs frameshift NM_001408505.1:c.1955_1974del20 NP_001395434.1:p.Gln653Leufs frameshift NM_001408506.1:c.1898_1917del20 NP_001395435.1:p.Gln634Leufs frameshift NM_001408507.1:c.1895_1914del20 NP_001395436.1:p.Gln633Leufs frameshift NM_001408508.1:c.1886_1905del20 NP_001395437.1:p.Gln630Leufs frameshift NM_001408509.1:c.1883_1902del20 NP_001395438.1:p.Gln629Leufs frameshift NM_001408510.1:c.1844_1863del20 NP_001395439.1:p.Gln616Leufs frameshift NM_001408511.1:c.1841_1860del20 NP_001395440.1:p.Gln615Leufs frameshift NM_001408512.1:c.1721_1740del20 NP_001395441.1:p.Gln575Leufs frameshift NM_001408513.1:c.1694_1713del20 NP_001395442.1:p.Gln566Leufs frameshift NM_001408514.1:c.1298_1317del20 NP_001395443.1:p.Gln434Leufs frameshift NM_007294.3:c.5534_5553del20 NP_009225.1:p.Gln1846Leufs frameshift NM_007297.4:c.5396_5415del NP_009228.2:p.Gln1799fs frameshift NM_007298.4:c.2222_2241del20 NP_009229.2:p.Gln742Leufs frameshift NM_007299.4:c.*51_*70del 3 prime UTR NM_007300.4:c.5600_5619del NP_009231.2:p.Gln1867fs frameshift NM_007304.2:c.2222_2241del20 NP_009235.2:p.Gln742Leufs frameshift NR_027676.2:n.5714_5733del non-coding transcript variant NC_000017.11:g.43045717_43045736del NC_000017.10:g.41197734_41197753del NG_005905.2:g.172251_172270del LRG_292:g.172251_172270del LRG_292t1:c.5537_5556del LRG_292p1:p.Gln1846fs - Protein change
- Q1799fs, Q1846fs, Q742fs, Q1867fs
- Other names
- 5656del20
- Canonical SPDI
- NC_000017.11:43045713:GGTGTCCAGCTCCTGGCACTGGT:GGT
-
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 |
12746 | 14510 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257628.6 |
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: SCV000323886.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
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: SCV000326355.4
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 rs886040302 ...
HelpRecord last updated Jul 29, 2023
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.