ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5533_5534insG (p.Tyr1845Ter)
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.5533_5534insG (p.Tyr1845Ter)
Variation ID: 548197 Accession: VCV000548197.2
- Type and length
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Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045736-43045737 (GRCh38) [ NCBI UCSC ] 17: 41197753-41197754 (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 Jul 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5533_5534insG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1845Ter nonsense NM_001407571.1:c.5320_5321insG NP_001394500.1:p.Tyr1774Terfs frameshift nonsense NM_001407581.1:c.5599_5600insG NP_001394510.1:p.Tyr1867Terfs frameshift nonsense NM_001407582.1:c.5599_5600insG NP_001394511.1:p.Tyr1867Terfs frameshift nonsense NM_001407583.1:c.5596_5597insG NP_001394512.1:p.Tyr1866Terfs frameshift nonsense NM_001407585.1:c.5596_5597insG NP_001394514.1:p.Tyr1866Terfs frameshift nonsense NM_001407587.1:c.5596_5597insG NP_001394516.1:p.Tyr1866Terfs frameshift nonsense NM_001407590.1:c.5593_5594insG NP_001394519.1:p.Tyr1865Terfs frameshift nonsense NM_001407591.1:c.5593_5594insG NP_001394520.1:p.Tyr1865Terfs frameshift nonsense NM_001407593.1:c.5533_5534insG NP_001394522.1:p.Tyr1845Terfs frameshift nonsense NM_001407594.1:c.5533_5534insG NP_001394523.1:p.Tyr1845Terfs frameshift nonsense NM_001407596.1:c.5533_5534insG NP_001394525.1:p.Tyr1845Terfs frameshift nonsense NM_001407597.1:c.5533_5534insG NP_001394526.1:p.Tyr1845Terfs frameshift nonsense NM_001407598.1:c.5533_5534insG NP_001394527.1:p.Tyr1845Terfs frameshift nonsense NM_001407602.1:c.5533_5534insG NP_001394531.1:p.Tyr1845Terfs frameshift nonsense NM_001407603.1:c.5533_5534insG NP_001394532.1:p.Tyr1845Terfs frameshift nonsense NM_001407605.1:c.5533_5534insG NP_001394534.1:p.Tyr1845Terfs frameshift nonsense NM_001407610.1:c.5530_5531insG NP_001394539.1:p.Tyr1844Terfs frameshift nonsense NM_001407611.1:c.5530_5531insG NP_001394540.1:p.Tyr1844Terfs frameshift nonsense NM_001407612.1:c.5530_5531insG NP_001394541.1:p.Tyr1844Terfs frameshift nonsense NM_001407613.1:c.5530_5531insG NP_001394542.1:p.Tyr1844Terfs frameshift nonsense NM_001407614.1:c.5530_5531insG NP_001394543.1:p.Tyr1844Terfs frameshift nonsense NM_001407615.1:c.5530_5531insG NP_001394544.1:p.Tyr1844Terfs frameshift nonsense NM_001407616.1:c.5530_5531insG NP_001394545.1:p.Tyr1844Terfs frameshift nonsense NM_001407617.1:c.5530_5531insG NP_001394546.1:p.Tyr1844Terfs frameshift nonsense NM_001407618.1:c.5530_5531insG NP_001394547.1:p.Tyr1844Terfs frameshift nonsense NM_001407619.1:c.5530_5531insG NP_001394548.1:p.Tyr1844Terfs frameshift nonsense NM_001407620.1:c.5530_5531insG NP_001394549.1:p.Tyr1844Terfs frameshift nonsense NM_001407621.1:c.5530_5531insG NP_001394550.1:p.Tyr1844Terfs frameshift nonsense NM_001407622.1:c.5530_5531insG NP_001394551.1:p.Tyr1844Terfs frameshift nonsense NM_001407623.1:c.5530_5531insG NP_001394552.1:p.Tyr1844Terfs frameshift nonsense NM_001407624.1:c.5530_5531insG NP_001394553.1:p.Tyr1844Terfs frameshift nonsense NM_001407625.1:c.5530_5531insG NP_001394554.1:p.Tyr1844Terfs frameshift nonsense NM_001407626.1:c.5530_5531insG NP_001394555.1:p.Tyr1844Terfs frameshift nonsense NM_001407627.1:c.5527_5528insG NP_001394556.1:p.Tyr1843Terfs frameshift nonsense NM_001407628.1:c.5527_5528insG NP_001394557.1:p.Tyr1843Terfs frameshift nonsense NM_001407629.1:c.5527_5528insG NP_001394558.1:p.Tyr1843Terfs frameshift nonsense NM_001407630.1:c.5527_5528insG NP_001394559.1:p.Tyr1843Terfs frameshift nonsense NM_001407631.1:c.5527_5528insG NP_001394560.1:p.Tyr1843Terfs frameshift nonsense NM_001407632.1:c.5527_5528insG NP_001394561.1:p.Tyr1843Terfs frameshift nonsense NM_001407633.1:c.5527_5528insG NP_001394562.1:p.Tyr1843Terfs frameshift nonsense NM_001407634.1:c.5527_5528insG NP_001394563.1:p.Tyr1843Terfs frameshift nonsense NM_001407635.1:c.5527_5528insG NP_001394564.1:p.Tyr1843Terfs frameshift nonsense NM_001407636.1:c.5527_5528insG NP_001394565.1:p.Tyr1843Terfs frameshift nonsense NM_001407637.1:c.5527_5528insG NP_001394566.1:p.Tyr1843Terfs frameshift nonsense NM_001407638.1:c.5527_5528insG NP_001394567.1:p.Tyr1843Terfs frameshift nonsense NM_001407639.1:c.5527_5528insG NP_001394568.1:p.Tyr1843Terfs frameshift nonsense NM_001407640.1:c.5527_5528insG NP_001394569.1:p.Tyr1843Terfs frameshift nonsense NM_001407641.1:c.5527_5528insG NP_001394570.1:p.Tyr1843Terfs frameshift nonsense NM_001407642.1:c.5527_5528insG NP_001394571.1:p.Tyr1843Terfs frameshift nonsense NM_001407644.1:c.5524_5525insG NP_001394573.1:p.Tyr1842Terfs frameshift nonsense NM_001407645.1:c.5524_5525insG NP_001394574.1:p.Tyr1842Terfs frameshift nonsense NM_001407646.1:c.5521_5522insG NP_001394575.1:p.Tyr1841Terfs frameshift nonsense NM_001407647.1:c.5518_5519insG NP_001394576.1:p.Tyr1840Terfs frameshift nonsense NM_001407648.1:c.5476_5477insG NP_001394577.1:p.Tyr1826Terfs frameshift nonsense NM_001407649.1:c.5473_5474insG NP_001394578.1:p.Tyr1825Terfs frameshift nonsense NM_001407652.1:c.5455_5456insG NP_001394581.1:p.Tyr1819Terfs frameshift nonsense NM_001407653.1:c.5455_5456insG NP_001394582.1:p.Tyr1819Terfs frameshift nonsense NM_001407654.1:c.5455_5456insG NP_001394583.1:p.Tyr1819Terfs frameshift nonsense NM_001407655.1:c.5455_5456insG NP_001394584.1:p.Tyr1819Terfs frameshift nonsense NM_001407656.1:c.5452_5453insG NP_001394585.1:p.Tyr1818Terfs frameshift nonsense NM_001407657.1:c.5452_5453insG NP_001394586.1:p.Tyr1818Terfs frameshift nonsense NM_001407658.1:c.5452_5453insG NP_001394587.1:p.Tyr1818Terfs frameshift nonsense NM_001407659.1:c.5449_5450insG NP_001394588.1:p.Tyr1817Terfs frameshift nonsense NM_001407660.1:c.5449_5450insG NP_001394589.1:p.Tyr1817Terfs frameshift nonsense NM_001407661.1:c.5449_5450insG NP_001394590.1:p.Tyr1817Terfs frameshift nonsense NM_001407662.1:c.5449_5450insG NP_001394591.1:p.Tyr1817Terfs frameshift nonsense NM_001407663.1:c.5449_5450insG NP_001394592.1:p.Tyr1817Terfs frameshift nonsense NM_001407664.1:c.5410_5411insG NP_001394593.1:p.Tyr1804Terfs frameshift nonsense NM_001407665.1:c.5410_5411insG NP_001394594.1:p.Tyr1804Terfs frameshift nonsense NM_001407666.1:c.5410_5411insG NP_001394595.1:p.Tyr1804Terfs frameshift nonsense NM_001407667.1:c.5410_5411insG NP_001394596.1:p.Tyr1804Terfs frameshift nonsense NM_001407668.1:c.5410_5411insG NP_001394597.1:p.Tyr1804Terfs frameshift nonsense NM_001407669.1:c.5410_5411insG NP_001394598.1:p.Tyr1804Terfs frameshift nonsense NM_001407670.1:c.5407_5408insG NP_001394599.1:p.Tyr1803Terfs frameshift nonsense NM_001407671.1:c.5407_5408insG NP_001394600.1:p.Tyr1803Terfs frameshift nonsense NM_001407672.1:c.5407_5408insG NP_001394601.1:p.Tyr1803Terfs frameshift nonsense NM_001407673.1:c.5407_5408insG NP_001394602.1:p.Tyr1803Terfs frameshift nonsense NM_001407674.1:c.5407_5408insG NP_001394603.1:p.Tyr1803Terfs frameshift nonsense NM_001407675.1:c.5407_5408insG NP_001394604.1:p.Tyr1803Terfs frameshift nonsense NM_001407676.1:c.5407_5408insG NP_001394605.1:p.Tyr1803Terfs frameshift nonsense NM_001407677.1:c.5407_5408insG NP_001394606.1:p.Tyr1803Terfs frameshift nonsense NM_001407678.1:c.5407_5408insG NP_001394607.1:p.Tyr1803Terfs frameshift nonsense NM_001407679.1:c.5407_5408insG NP_001394608.1:p.Tyr1803Terfs frameshift nonsense NM_001407680.1:c.5407_5408insG NP_001394609.1:p.Tyr1803Terfs frameshift nonsense NM_001407681.1:c.5404_5405insG NP_001394610.1:p.Tyr1802Terfs frameshift nonsense NM_001407682.1:c.5404_5405insG NP_001394611.1:p.Tyr1802Terfs frameshift nonsense NM_001407683.1:c.5404_5405insG NP_001394612.1:p.Tyr1802Terfs frameshift nonsense NM_001407684.1:c.5404_5405insG NP_001394613.1:p.Tyr1802Terfs frameshift nonsense NM_001407685.1:c.5404_5405insG NP_001394614.1:p.Tyr1802Terfs frameshift nonsense NM_001407686.1:c.5404_5405insG NP_001394615.1:p.Tyr1802Terfs frameshift nonsense NM_001407687.1:c.5404_5405insG NP_001394616.1:p.Tyr1802Terfs frameshift nonsense NM_001407688.1:c.5404_5405insG NP_001394617.1:p.Tyr1802Terfs frameshift nonsense NM_001407689.1:c.5404_5405insG NP_001394618.1:p.Tyr1802Terfs frameshift nonsense NM_001407690.1:c.5401_5402insG NP_001394619.1:p.Tyr1801Terfs frameshift nonsense NM_001407691.1:c.5401_5402insG NP_001394620.1:p.Tyr1801Terfs frameshift nonsense NM_001407692.1:c.5392_5393insG NP_001394621.1:p.Tyr1798Terfs frameshift nonsense NM_001407694.1:c.5392_5393insG NP_001394623.1:p.Tyr1798Terfs frameshift nonsense NM_001407695.1:c.5392_5393insG NP_001394624.1:p.Tyr1798Terfs frameshift nonsense NM_001407696.1:c.5392_5393insG NP_001394625.1:p.Tyr1798Terfs frameshift nonsense NM_001407697.1:c.5392_5393insG NP_001394626.1:p.Tyr1798Terfs frameshift nonsense NM_001407698.1:c.5392_5393insG NP_001394627.1:p.Tyr1798Terfs frameshift nonsense NM_001407724.1:c.5392_5393insG NP_001394653.1:p.Tyr1798Terfs frameshift nonsense NM_001407725.1:c.5392_5393insG NP_001394654.1:p.Tyr1798Terfs frameshift nonsense NM_001407726.1:c.5392_5393insG NP_001394655.1:p.Tyr1798Terfs frameshift nonsense NM_001407727.1:c.5392_5393insG NP_001394656.1:p.Tyr1798Terfs frameshift nonsense NM_001407728.1:c.5392_5393insG NP_001394657.1:p.Tyr1798Terfs frameshift nonsense NM_001407729.1:c.5392_5393insG NP_001394658.1:p.Tyr1798Terfs frameshift nonsense NM_001407730.1:c.5392_5393insG NP_001394659.1:p.Tyr1798Terfs frameshift nonsense NM_001407731.1:c.5392_5393insG NP_001394660.1:p.Tyr1798Terfs frameshift nonsense NM_001407732.1:c.5389_5390insG NP_001394661.1:p.Tyr1797Terfs frameshift nonsense NM_001407733.1:c.5389_5390insG NP_001394662.1:p.Tyr1797Terfs frameshift nonsense NM_001407734.1:c.5389_5390insG NP_001394663.1:p.Tyr1797Terfs frameshift nonsense NM_001407735.1:c.5389_5390insG NP_001394664.1:p.Tyr1797Terfs frameshift nonsense NM_001407736.1:c.5389_5390insG NP_001394665.1:p.Tyr1797Terfs frameshift nonsense NM_001407737.1:c.5389_5390insG NP_001394666.1:p.Tyr1797Terfs frameshift nonsense NM_001407738.1:c.5389_5390insG NP_001394667.1:p.Tyr1797Terfs frameshift nonsense NM_001407739.1:c.5389_5390insG NP_001394668.1:p.Tyr1797Terfs frameshift nonsense NM_001407740.1:c.5389_5390insG NP_001394669.1:p.Tyr1797Terfs frameshift nonsense NM_001407741.1:c.5389_5390insG NP_001394670.1:p.Tyr1797Terfs frameshift nonsense NM_001407742.1:c.5389_5390insG NP_001394671.1:p.Tyr1797Terfs frameshift nonsense NM_001407743.1:c.5389_5390insG NP_001394672.1:p.Tyr1797Terfs frameshift nonsense NM_001407744.1:c.5389_5390insG NP_001394673.1:p.Tyr1797Terfs frameshift nonsense NM_001407745.1:c.5389_5390insG NP_001394674.1:p.Tyr1797Terfs frameshift nonsense NM_001407746.1:c.5389_5390insG NP_001394675.1:p.Tyr1797Terfs frameshift nonsense NM_001407747.1:c.5389_5390insG NP_001394676.1:p.Tyr1797Terfs frameshift nonsense NM_001407748.1:c.5389_5390insG NP_001394677.1:p.Tyr1797Terfs frameshift nonsense NM_001407749.1:c.5389_5390insG NP_001394678.1:p.Tyr1797Terfs frameshift nonsense NM_001407750.1:c.5389_5390insG NP_001394679.1:p.Tyr1797Terfs frameshift nonsense NM_001407751.1:c.5389_5390insG NP_001394680.1:p.Tyr1797Terfs frameshift nonsense NM_001407752.1:c.5389_5390insG NP_001394681.1:p.Tyr1797Terfs frameshift nonsense NM_001407838.1:c.5386_5387insG NP_001394767.1:p.Tyr1796Terfs frameshift nonsense NM_001407839.1:c.5386_5387insG NP_001394768.1:p.Tyr1796Terfs frameshift nonsense NM_001407841.1:c.5386_5387insG NP_001394770.1:p.Tyr1796Terfs frameshift nonsense NM_001407842.1:c.5386_5387insG NP_001394771.1:p.Tyr1796Terfs frameshift nonsense NM_001407843.1:c.5386_5387insG NP_001394772.1:p.Tyr1796Terfs frameshift nonsense NM_001407844.1:c.5386_5387insG NP_001394773.1:p.Tyr1796Terfs frameshift nonsense NM_001407845.1:c.5386_5387insG NP_001394774.1:p.Tyr1796Terfs frameshift nonsense NM_001407846.1:c.5386_5387insG NP_001394775.1:p.Tyr1796Terfs frameshift nonsense NM_001407847.1:c.5386_5387insG NP_001394776.1:p.Tyr1796Terfs frameshift nonsense NM_001407848.1:c.5386_5387insG NP_001394777.1:p.Tyr1796Terfs frameshift nonsense NM_001407849.1:c.5386_5387insG NP_001394778.1:p.Tyr1796Terfs frameshift nonsense NM_001407850.1:c.5386_5387insG NP_001394779.1:p.Tyr1796Terfs frameshift nonsense NM_001407851.1:c.5386_5387insG NP_001394780.1:p.Tyr1796Terfs frameshift nonsense NM_001407852.1:c.5386_5387insG NP_001394781.1:p.Tyr1796Terfs frameshift nonsense NM_001407853.1:c.5386_5387insG NP_001394782.1:p.Tyr1796Terfs frameshift nonsense NM_001407854.1:c.*47_*48insG NM_001407858.1:c.*47_*48insG NM_001407859.1:c.*47_*48insG NM_001407860.1:c.*47_*48insG NM_001407861.1:c.*47_*48insG NM_001407862.1:c.5332_5333insG NP_001394791.1:p.Tyr1778Terfs frameshift nonsense NM_001407863.1:c.5329_5330insG NP_001394792.1:p.Tyr1777Terfs frameshift nonsense NM_001407874.1:c.5326_5327insG NP_001394803.1:p.Tyr1776Terfs frameshift nonsense NM_001407875.1:c.5326_5327insG NP_001394804.1:p.Tyr1776Terfs frameshift nonsense NM_001407879.1:c.5323_5324insG NP_001394808.1:p.Tyr1775Terfs frameshift nonsense NM_001407881.1:c.5323_5324insG NP_001394810.1:p.Tyr1775Terfs frameshift nonsense NM_001407882.1:c.5323_5324insG NP_001394811.1:p.Tyr1775Terfs frameshift nonsense NM_001407884.1:c.5323_5324insG NP_001394813.1:p.Tyr1775Terfs frameshift nonsense NM_001407885.1:c.5323_5324insG NP_001394814.1:p.Tyr1775Terfs frameshift nonsense NM_001407886.1:c.5323_5324insG NP_001394815.1:p.Tyr1775Terfs frameshift nonsense NM_001407887.1:c.5323_5324insG NP_001394816.1:p.Tyr1775Terfs frameshift nonsense NM_001407889.1:c.5323_5324insG NP_001394818.1:p.Tyr1775Terfs frameshift nonsense NM_001407894.1:c.5320_5321insG NP_001394823.1:p.Tyr1774Terfs frameshift nonsense NM_001407895.1:c.5320_5321insG NP_001394824.1:p.Tyr1774Terfs frameshift nonsense NM_001407896.1:c.5320_5321insG NP_001394825.1:p.Tyr1774Terfs frameshift nonsense NM_001407897.1:c.5320_5321insG NP_001394826.1:p.Tyr1774Terfs frameshift nonsense NM_001407898.1:c.5320_5321insG NP_001394827.1:p.Tyr1774Terfs frameshift nonsense NM_001407899.1:c.5320_5321insG NP_001394828.1:p.Tyr1774Terfs frameshift nonsense NM_001407900.1:c.5320_5321insG NP_001394829.1:p.Tyr1774Terfs frameshift nonsense NM_001407902.1:c.5320_5321insG NP_001394831.1:p.Tyr1774Terfs frameshift nonsense NM_001407904.1:c.5320_5321insG NP_001394833.1:p.Tyr1774Terfs frameshift nonsense NM_001407906.1:c.5320_5321insG NP_001394835.1:p.Tyr1774Terfs frameshift nonsense NM_001407907.1:c.5320_5321insG NP_001394836.1:p.Tyr1774Terfs frameshift nonsense NM_001407908.1:c.5320_5321insG NP_001394837.1:p.Tyr1774Terfs frameshift nonsense NM_001407909.1:c.5320_5321insG NP_001394838.1:p.Tyr1774Terfs frameshift nonsense NM_001407910.1:c.5320_5321insG NP_001394839.1:p.Tyr1774Terfs frameshift nonsense NM_001407915.1:c.5317_5318insG NP_001394844.1:p.Tyr1773Terfs frameshift nonsense NM_001407916.1:c.5317_5318insG NP_001394845.1:p.Tyr1773Terfs frameshift nonsense NM_001407917.1:c.5317_5318insG NP_001394846.1:p.Tyr1773Terfs frameshift nonsense NM_001407918.1:c.5317_5318insG NP_001394847.1:p.Tyr1773Terfs frameshift nonsense NM_001407919.1:c.5281_5282insG NP_001394848.1:p.Tyr1761Terfs frameshift nonsense NM_001407920.1:c.5269_5270insG NP_001394849.1:p.Tyr1757Terfs frameshift nonsense NM_001407921.1:c.5269_5270insG NP_001394850.1:p.Tyr1757Terfs frameshift nonsense NM_001407922.1:c.5269_5270insG NP_001394851.1:p.Tyr1757Terfs frameshift nonsense NM_001407923.1:c.5269_5270insG NP_001394852.1:p.Tyr1757Terfs frameshift nonsense NM_001407924.1:c.5269_5270insG NP_001394853.1:p.Tyr1757Terfs frameshift nonsense NM_001407925.1:c.5269_5270insG NP_001394854.1:p.Tyr1757Terfs frameshift nonsense NM_001407926.1:c.5269_5270insG NP_001394855.1:p.Tyr1757Terfs frameshift nonsense NM_001407927.1:c.5266_5267insG NP_001394856.1:p.Tyr1756Terfs frameshift nonsense NM_001407928.1:c.5266_5267insG NP_001394857.1:p.Tyr1756Terfs frameshift nonsense NM_001407929.1:c.5266_5267insG NP_001394858.1:p.Tyr1756Terfs frameshift nonsense NM_001407930.1:c.5266_5267insG NP_001394859.1:p.Tyr1756Terfs frameshift nonsense NM_001407931.1:c.5266_5267insG NP_001394860.1:p.Tyr1756Terfs frameshift nonsense NM_001407932.1:c.5266_5267insG NP_001394861.1:p.Tyr1756Terfs frameshift nonsense NM_001407933.1:c.5266_5267insG NP_001394862.1:p.Tyr1756Terfs frameshift nonsense NM_001407934.1:c.5263_5264insG NP_001394863.1:p.Tyr1755Terfs frameshift nonsense NM_001407935.1:c.5263_5264insG NP_001394864.1:p.Tyr1755Terfs frameshift nonsense NM_001407936.1:c.5263_5264insG NP_001394865.1:p.Tyr1755Terfs frameshift nonsense NM_001407937.1:c.*47_*48insG NM_001407938.1:c.*47_*48insG NM_001407939.1:c.*47_*48insG NM_001407940.1:c.*47_*48insG NM_001407941.1:c.*47_*48insG NM_001407942.1:c.*47_*48insG NM_001407943.1:c.*47_*48insG NM_001407944.1:c.*47_*48insG NM_001407945.1:c.*47_*48insG NM_001407946.1:c.5200_5201insG NP_001394875.1:p.Tyr1734Terfs frameshift nonsense NM_001407947.1:c.5200_5201insG NP_001394876.1:p.Tyr1734Terfs frameshift nonsense NM_001407948.1:c.5200_5201insG NP_001394877.1:p.Tyr1734Terfs frameshift nonsense NM_001407949.1:c.5200_5201insG NP_001394878.1:p.Tyr1734Terfs frameshift nonsense NM_001407950.1:c.5197_5198insG NP_001394879.1:p.Tyr1733Terfs frameshift nonsense NM_001407951.1:c.5197_5198insG NP_001394880.1:p.Tyr1733Terfs frameshift nonsense NM_001407952.1:c.5197_5198insG NP_001394881.1:p.Tyr1733Terfs frameshift nonsense NM_001407953.1:c.5197_5198insG NP_001394882.1:p.Tyr1733Terfs frameshift nonsense NM_001407954.1:c.5197_5198insG NP_001394883.1:p.Tyr1733Terfs frameshift nonsense NM_001407955.1:c.5197_5198insG NP_001394884.1:p.Tyr1733Terfs frameshift nonsense NM_001407956.1:c.5194_5195insG NP_001394885.1:p.Tyr1732Terfs frameshift nonsense NM_001407957.1:c.5194_5195insG NP_001394886.1:p.Tyr1732Terfs frameshift nonsense NM_001407958.1:c.5194_5195insG NP_001394887.1:p.Tyr1732Terfs frameshift nonsense NM_001407959.1:c.5152_5153insG NP_001394888.1:p.Tyr1718Terfs frameshift nonsense NM_001407960.1:c.5149_5150insG NP_001394889.1:p.Tyr1717Terfs frameshift nonsense NM_001407962.1:c.5149_5150insG NP_001394891.1:p.Tyr1717Terfs frameshift nonsense NM_001407963.1:c.5146_5147insG NP_001394892.1:p.Tyr1716Terfs frameshift nonsense NM_001407964.1:c.5071_5072insG NP_001394893.1:p.Tyr1691Terfs frameshift nonsense NM_001407965.1:c.5026_5027insG NP_001394894.1:p.Tyr1676Terfs frameshift nonsense NM_001407966.1:c.4645_4646insG NP_001394895.1:p.Tyr1549Terfs frameshift nonsense NM_001407967.1:c.4642_4643insG NP_001394896.1:p.Tyr1548Terfs frameshift nonsense NM_001407968.1:c.2929_2930insG NP_001394897.1:p.Tyr977Terfs frameshift nonsense NM_001407969.1:c.2926_2927insG NP_001394898.1:p.Tyr976Terfs frameshift nonsense NM_001407970.1:c.2290_2291insG NP_001394899.1:p.Tyr764Terfs frameshift nonsense NM_001407971.1:c.2290_2291insG NP_001394900.1:p.Tyr764Terfs frameshift nonsense NM_001407972.1:c.2287_2288insG NP_001394901.1:p.Tyr763Terfs frameshift nonsense NM_001407973.1:c.2224_2225insG NP_001394902.1:p.Tyr742Terfs frameshift nonsense NM_001407974.1:c.2224_2225insG NP_001394903.1:p.Tyr742Terfs frameshift nonsense NM_001407975.1:c.2224_2225insG NP_001394904.1:p.Tyr742Terfs frameshift nonsense NM_001407976.1:c.2224_2225insG NP_001394905.1:p.Tyr742Terfs frameshift nonsense NM_001407977.1:c.2224_2225insG NP_001394906.1:p.Tyr742Terfs frameshift nonsense NM_001407978.1:c.2224_2225insG NP_001394907.1:p.Tyr742Terfs frameshift nonsense NM_001407979.1:c.2221_2222insG NP_001394908.1:p.Tyr741Terfs frameshift nonsense NM_001407980.1:c.2221_2222insG NP_001394909.1:p.Tyr741Terfs frameshift nonsense NM_001407981.1:c.2221_2222insG NP_001394910.1:p.Tyr741Terfs frameshift nonsense NM_001407982.1:c.2221_2222insG NP_001394911.1:p.Tyr741Terfs frameshift nonsense NM_001407983.1:c.2221_2222insG NP_001394912.1:p.Tyr741Terfs frameshift nonsense NM_001407984.1:c.2221_2222insG NP_001394913.1:p.Tyr741Terfs frameshift nonsense NM_001407985.1:c.2221_2222insG NP_001394914.1:p.Tyr741Terfs frameshift nonsense NM_001407986.1:c.2221_2222insG NP_001394915.1:p.Tyr741Terfs frameshift nonsense NM_001407990.1:c.2221_2222insG NP_001394919.1:p.Tyr741Terfs frameshift nonsense NM_001407991.1:c.2221_2222insG NP_001394920.1:p.Tyr741Terfs frameshift nonsense NM_001407992.1:c.2221_2222insG NP_001394921.1:p.Tyr741Terfs frameshift nonsense NM_001407993.1:c.2221_2222insG NP_001394922.1:p.Tyr741Terfs frameshift nonsense NM_001408392.1:c.2218_2219insG NP_001395321.1:p.Tyr740Terfs frameshift nonsense NM_001408396.1:c.2218_2219insG NP_001395325.1:p.Tyr740Terfs frameshift nonsense NM_001408397.1:c.2218_2219insG NP_001395326.1:p.Tyr740Terfs frameshift nonsense NM_001408398.1:c.2218_2219insG NP_001395327.1:p.Tyr740Terfs frameshift nonsense NM_001408399.1:c.2218_2219insG NP_001395328.1:p.Tyr740Terfs frameshift nonsense NM_001408400.1:c.2218_2219insG NP_001395329.1:p.Tyr740Terfs frameshift nonsense NM_001408401.1:c.2218_2219insG NP_001395330.1:p.Tyr740Terfs frameshift nonsense NM_001408402.1:c.2218_2219insG NP_001395331.1:p.Tyr740Terfs frameshift nonsense NM_001408403.1:c.2218_2219insG NP_001395332.1:p.Tyr740Terfs frameshift nonsense NM_001408404.1:c.2218_2219insG NP_001395333.1:p.Tyr740Terfs frameshift nonsense NM_001408406.1:c.2215_2216insG NP_001395335.1:p.Tyr739Terfs frameshift nonsense NM_001408407.1:c.2215_2216insG NP_001395336.1:p.Tyr739Terfs frameshift nonsense NM_001408408.1:c.2215_2216insG NP_001395337.1:p.Tyr739Terfs frameshift nonsense NM_001408409.1:c.2212_2213insG NP_001395338.1:p.Tyr738Terfs frameshift nonsense NM_001408410.1:c.2149_2150insG NP_001395339.1:p.Tyr717Terfs frameshift nonsense NM_001408411.1:c.2146_2147insG NP_001395340.1:p.Tyr716Terfs frameshift nonsense NM_001408412.1:c.2143_2144insG NP_001395341.1:p.Tyr715Terfs frameshift nonsense NM_001408413.1:c.2143_2144insG NP_001395342.1:p.Tyr715Terfs frameshift nonsense NM_001408414.1:c.2143_2144insG NP_001395343.1:p.Tyr715Terfs frameshift nonsense NM_001408415.1:c.2143_2144insG NP_001395344.1:p.Tyr715Terfs frameshift nonsense NM_001408416.1:c.2143_2144insG NP_001395345.1:p.Tyr715Terfs frameshift nonsense NM_001408418.1:c.2107_2108insG NP_001395347.1:p.Tyr703Terfs frameshift nonsense NM_001408419.1:c.2107_2108insG NP_001395348.1:p.Tyr703Terfs frameshift nonsense NM_001408420.1:c.2107_2108insG NP_001395349.1:p.Tyr703Terfs frameshift nonsense NM_001408421.1:c.2104_2105insG NP_001395350.1:p.Tyr702Terfs frameshift nonsense NM_001408422.1:c.2104_2105insG NP_001395351.1:p.Tyr702Terfs frameshift nonsense NM_001408423.1:c.2104_2105insG NP_001395352.1:p.Tyr702Terfs frameshift nonsense NM_001408424.1:c.2104_2105insG NP_001395353.1:p.Tyr702Terfs frameshift nonsense NM_001408425.1:c.2101_2102insG NP_001395354.1:p.Tyr701Terfs frameshift nonsense NM_001408426.1:c.2101_2102insG NP_001395355.1:p.Tyr701Terfs frameshift nonsense NM_001408427.1:c.2101_2102insG NP_001395356.1:p.Tyr701Terfs frameshift nonsense NM_001408428.1:c.2101_2102insG NP_001395357.1:p.Tyr701Terfs frameshift nonsense NM_001408429.1:c.2101_2102insG NP_001395358.1:p.Tyr701Terfs frameshift nonsense NM_001408430.1:c.2101_2102insG NP_001395359.1:p.Tyr701Terfs frameshift nonsense NM_001408431.1:c.2101_2102insG NP_001395360.1:p.Tyr701Terfs frameshift nonsense NM_001408432.1:c.2098_2099insG NP_001395361.1:p.Tyr700Terfs frameshift nonsense NM_001408433.1:c.2098_2099insG NP_001395362.1:p.Tyr700Terfs frameshift nonsense NM_001408434.1:c.2098_2099insG NP_001395363.1:p.Tyr700Terfs frameshift nonsense NM_001408435.1:c.2098_2099insG NP_001395364.1:p.Tyr700Terfs frameshift nonsense NM_001408436.1:c.2098_2099insG NP_001395365.1:p.Tyr700Terfs frameshift nonsense NM_001408437.1:c.2098_2099insG NP_001395366.1:p.Tyr700Terfs frameshift nonsense NM_001408438.1:c.2098_2099insG NP_001395367.1:p.Tyr700Terfs frameshift nonsense NM_001408439.1:c.2098_2099insG NP_001395368.1:p.Tyr700Terfs frameshift nonsense NM_001408440.1:c.2098_2099insG NP_001395369.1:p.Tyr700Terfs frameshift nonsense NM_001408441.1:c.2098_2099insG NP_001395370.1:p.Tyr700Terfs frameshift nonsense NM_001408442.1:c.2098_2099insG NP_001395371.1:p.Tyr700Terfs frameshift nonsense NM_001408443.1:c.2098_2099insG NP_001395372.1:p.Tyr700Terfs frameshift nonsense NM_001408444.1:c.2098_2099insG NP_001395373.1:p.Tyr700Terfs frameshift nonsense NM_001408445.1:c.2095_2096insG NP_001395374.1:p.Tyr699Terfs frameshift nonsense NM_001408446.1:c.2095_2096insG NP_001395375.1:p.Tyr699Terfs frameshift nonsense NM_001408447.1:c.2095_2096insG NP_001395376.1:p.Tyr699Terfs frameshift nonsense NM_001408448.1:c.2095_2096insG NP_001395377.1:p.Tyr699Terfs frameshift nonsense NM_001408450.1:c.2095_2096insG NP_001395379.1:p.Tyr699Terfs frameshift nonsense NM_001408451.1:c.2089_2090insG NP_001395380.1:p.Tyr697Terfs frameshift nonsense NM_001408452.1:c.2083_2084insG NP_001395381.1:p.Tyr695Terfs frameshift nonsense NM_001408453.1:c.2083_2084insG NP_001395382.1:p.Tyr695Terfs frameshift nonsense NM_001408454.1:c.2083_2084insG NP_001395383.1:p.Tyr695Terfs frameshift nonsense NM_001408455.1:c.2083_2084insG NP_001395384.1:p.Tyr695Terfs frameshift nonsense NM_001408456.1:c.2083_2084insG NP_001395385.1:p.Tyr695Terfs frameshift nonsense NM_001408457.1:c.2083_2084insG NP_001395386.1:p.Tyr695Terfs frameshift nonsense NM_001408458.1:c.2080_2081insG NP_001395387.1:p.Tyr694Terfs frameshift nonsense NM_001408459.1:c.2080_2081insG NP_001395388.1:p.Tyr694Terfs frameshift nonsense NM_001408460.1:c.2080_2081insG NP_001395389.1:p.Tyr694Terfs frameshift nonsense NM_001408461.1:c.2080_2081insG NP_001395390.1:p.Tyr694Terfs frameshift nonsense NM_001408462.1:c.2080_2081insG NP_001395391.1:p.Tyr694Terfs frameshift nonsense NM_001408463.1:c.2080_2081insG NP_001395392.1:p.Tyr694Terfs frameshift nonsense NM_001408464.1:c.2080_2081insG NP_001395393.1:p.Tyr694Terfs frameshift nonsense NM_001408465.1:c.2080_2081insG NP_001395394.1:p.Tyr694Terfs frameshift nonsense NM_001408466.1:c.2080_2081insG NP_001395395.1:p.Tyr694Terfs frameshift nonsense NM_001408467.1:c.2080_2081insG NP_001395396.1:p.Tyr694Terfs frameshift nonsense NM_001408468.1:c.2077_2078insG NP_001395397.1:p.Tyr693Terfs frameshift nonsense NM_001408469.1:c.2077_2078insG NP_001395398.1:p.Tyr693Terfs frameshift nonsense NM_001408470.1:c.2077_2078insG NP_001395399.1:p.Tyr693Terfs frameshift nonsense NM_001408472.1:c.*47_*48insG NM_001408473.1:c.*47_*48insG NM_001408474.1:c.2023_2024insG NP_001395403.1:p.Tyr675Terfs frameshift nonsense NM_001408475.1:c.2020_2021insG NP_001395404.1:p.Tyr674Terfs frameshift nonsense NM_001408476.1:c.2020_2021insG NP_001395405.1:p.Tyr674Terfs frameshift nonsense NM_001408478.1:c.2014_2015insG NP_001395407.1:p.Tyr672Terfs frameshift nonsense NM_001408479.1:c.2014_2015insG NP_001395408.1:p.Tyr672Terfs frameshift nonsense NM_001408480.1:c.2014_2015insG NP_001395409.1:p.Tyr672Terfs frameshift nonsense NM_001408481.1:c.2011_2012insG NP_001395410.1:p.Tyr671Terfs frameshift nonsense NM_001408482.1:c.2011_2012insG NP_001395411.1:p.Tyr671Terfs frameshift nonsense NM_001408483.1:c.2011_2012insG NP_001395412.1:p.Tyr671Terfs frameshift nonsense NM_001408484.1:c.2011_2012insG NP_001395413.1:p.Tyr671Terfs frameshift nonsense NM_001408485.1:c.2011_2012insG NP_001395414.1:p.Tyr671Terfs frameshift nonsense NM_001408489.1:c.2011_2012insG NP_001395418.1:p.Tyr671Terfs frameshift nonsense NM_001408490.1:c.2011_2012insG NP_001395419.1:p.Tyr671Terfs frameshift nonsense NM_001408491.1:c.2011_2012insG NP_001395420.1:p.Tyr671Terfs frameshift nonsense NM_001408492.1:c.2008_2009insG NP_001395421.1:p.Tyr670Terfs frameshift nonsense NM_001408493.1:c.2008_2009insG NP_001395422.1:p.Tyr670Terfs frameshift nonsense NM_001408494.1:c.1984_1985insG NP_001395423.1:p.Tyr662Terfs frameshift nonsense NM_001408495.1:c.1978_1979insG NP_001395424.1:p.Tyr660Terfs frameshift nonsense NM_001408496.1:c.1960_1961insG NP_001395425.1:p.Tyr654Terfs frameshift nonsense NM_001408497.1:c.1960_1961insG NP_001395426.1:p.Tyr654Terfs frameshift nonsense NM_001408498.1:c.1960_1961insG NP_001395427.1:p.Tyr654Terfs frameshift nonsense NM_001408499.1:c.1960_1961insG NP_001395428.1:p.Tyr654Terfs frameshift nonsense NM_001408500.1:c.1960_1961insG NP_001395429.1:p.Tyr654Terfs frameshift nonsense NM_001408501.1:c.1960_1961insG NP_001395430.1:p.Tyr654Terfs frameshift nonsense NM_001408502.1:c.1957_1958insG NP_001395431.1:p.Tyr653Terfs frameshift nonsense NM_001408503.1:c.1957_1958insG NP_001395432.1:p.Tyr653Terfs frameshift nonsense NM_001408504.1:c.1957_1958insG NP_001395433.1:p.Tyr653Terfs frameshift nonsense NM_001408505.1:c.1954_1955insG NP_001395434.1:p.Tyr652Terfs frameshift nonsense NM_001408506.1:c.1897_1898insG NP_001395435.1:p.Tyr633Terfs frameshift nonsense NM_001408507.1:c.1894_1895insG NP_001395436.1:p.Tyr632Terfs frameshift nonsense NM_001408508.1:c.1885_1886insG NP_001395437.1:p.Tyr629Terfs frameshift nonsense NM_001408509.1:c.1882_1883insG NP_001395438.1:p.Tyr628Terfs frameshift nonsense NM_001408510.1:c.1843_1844insG NP_001395439.1:p.Tyr615Terfs frameshift nonsense NM_001408511.1:c.1840_1841insG NP_001395440.1:p.Tyr614Terfs frameshift nonsense NM_001408512.1:c.1720_1721insG NP_001395441.1:p.Tyr574Terfs frameshift nonsense NM_001408513.1:c.1693_1694insG NP_001395442.1:p.Tyr565Terfs frameshift nonsense NM_001408514.1:c.1297_1298insG NP_001395443.1:p.Tyr433Terfs frameshift nonsense NM_007297.4:c.5392_5393insG NP_009228.2:p.Tyr1798Ter nonsense NM_007298.4:c.2221_2222insG NP_009229.2:p.Tyr741Terfs frameshift nonsense NM_007299.4:c.*47_*48insG 3 prime UTR NM_007300.4:c.5596_5597insG NP_009231.2:p.Tyr1866Ter nonsense NM_007304.2:c.2221_2222insG NP_009235.2:p.Tyr741Terfs frameshift nonsense NR_027676.2:n.5710_5711insG non-coding transcript variant NC_000017.11:g.43045736_43045737insC NC_000017.10:g.41197753_41197754insC NG_005905.2:g.172247_172248insG LRG_292:g.172247_172248insG LRG_292t1:c.5533_5534insG LRG_292p1:p.Tyr1845Terfs - Protein change
- Y1798*, Y1845*, Y1866*, Y741*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045736::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.
-
- Links
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 |
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 (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661014.2 |
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: SCV000783256.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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 rs1555574384 ...
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.