ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5536del (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.5536del (p.Gln1846fs)
Variation ID: 266560 Accession: VCV000266560.4
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045734 (GRCh38) [ NCBI UCSC ] 17: 41197751 (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.5536del 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.5322delC NP_001394500.1:p.Gln1775Serfs frameshift NM_001407581.1:c.5601delC NP_001394510.1:p.Gln1868Serfs frameshift NM_001407582.1:c.5601delC NP_001394511.1:p.Gln1868Serfs frameshift NM_001407583.1:c.5598delC NP_001394512.1:p.Gln1867Serfs frameshift NM_001407585.1:c.5598delC NP_001394514.1:p.Gln1867Serfs frameshift NM_001407587.1:c.5598delC NP_001394516.1:p.Gln1867Serfs frameshift NM_001407590.1:c.5595delC NP_001394519.1:p.Gln1866Serfs frameshift NM_001407591.1:c.5595delC NP_001394520.1:p.Gln1866Serfs frameshift NM_001407593.1:c.5535delC NP_001394522.1:p.Gln1846Serfs frameshift NM_001407594.1:c.5535delC NP_001394523.1:p.Gln1846Serfs frameshift NM_001407596.1:c.5535delC NP_001394525.1:p.Gln1846Serfs frameshift NM_001407597.1:c.5535delC NP_001394526.1:p.Gln1846Serfs frameshift NM_001407598.1:c.5535delC NP_001394527.1:p.Gln1846Serfs frameshift NM_001407602.1:c.5535delC NP_001394531.1:p.Gln1846Serfs frameshift NM_001407603.1:c.5535delC NP_001394532.1:p.Gln1846Serfs frameshift NM_001407605.1:c.5535delC NP_001394534.1:p.Gln1846Serfs frameshift NM_001407610.1:c.5532delC NP_001394539.1:p.Gln1845Serfs frameshift NM_001407611.1:c.5532delC NP_001394540.1:p.Gln1845Serfs frameshift NM_001407612.1:c.5532delC NP_001394541.1:p.Gln1845Serfs frameshift NM_001407613.1:c.5532delC NP_001394542.1:p.Gln1845Serfs frameshift NM_001407614.1:c.5532delC NP_001394543.1:p.Gln1845Serfs frameshift NM_001407615.1:c.5532delC NP_001394544.1:p.Gln1845Serfs frameshift NM_001407616.1:c.5532delC NP_001394545.1:p.Gln1845Serfs frameshift NM_001407617.1:c.5532delC NP_001394546.1:p.Gln1845Serfs frameshift NM_001407618.1:c.5532delC NP_001394547.1:p.Gln1845Serfs frameshift NM_001407619.1:c.5532delC NP_001394548.1:p.Gln1845Serfs frameshift NM_001407620.1:c.5532delC NP_001394549.1:p.Gln1845Serfs frameshift NM_001407621.1:c.5532delC NP_001394550.1:p.Gln1845Serfs frameshift NM_001407622.1:c.5532delC NP_001394551.1:p.Gln1845Serfs frameshift NM_001407623.1:c.5532delC NP_001394552.1:p.Gln1845Serfs frameshift NM_001407624.1:c.5532delC NP_001394553.1:p.Gln1845Serfs frameshift NM_001407625.1:c.5532delC NP_001394554.1:p.Gln1845Serfs frameshift NM_001407626.1:c.5532delC NP_001394555.1:p.Gln1845Serfs frameshift NM_001407627.1:c.5529delC NP_001394556.1:p.Gln1844Serfs frameshift NM_001407628.1:c.5529delC NP_001394557.1:p.Gln1844Serfs frameshift NM_001407629.1:c.5529delC NP_001394558.1:p.Gln1844Serfs frameshift NM_001407630.1:c.5529delC NP_001394559.1:p.Gln1844Serfs frameshift NM_001407631.1:c.5529delC NP_001394560.1:p.Gln1844Serfs frameshift NM_001407632.1:c.5529delC NP_001394561.1:p.Gln1844Serfs frameshift NM_001407633.1:c.5529delC NP_001394562.1:p.Gln1844Serfs frameshift NM_001407634.1:c.5529delC NP_001394563.1:p.Gln1844Serfs frameshift NM_001407635.1:c.5529delC NP_001394564.1:p.Gln1844Serfs frameshift NM_001407636.1:c.5529delC NP_001394565.1:p.Gln1844Serfs frameshift NM_001407637.1:c.5529delC NP_001394566.1:p.Gln1844Serfs frameshift NM_001407638.1:c.5529delC NP_001394567.1:p.Gln1844Serfs frameshift NM_001407639.1:c.5529delC NP_001394568.1:p.Gln1844Serfs frameshift NM_001407640.1:c.5529delC NP_001394569.1:p.Gln1844Serfs frameshift NM_001407641.1:c.5529delC NP_001394570.1:p.Gln1844Serfs frameshift NM_001407642.1:c.5529delC NP_001394571.1:p.Gln1844Serfs frameshift NM_001407644.1:c.5526delC NP_001394573.1:p.Gln1843Serfs frameshift NM_001407645.1:c.5526delC NP_001394574.1:p.Gln1843Serfs frameshift NM_001407646.1:c.5523delC NP_001394575.1:p.Gln1842Serfs frameshift NM_001407647.1:c.5520delC NP_001394576.1:p.Gln1841Serfs frameshift NM_001407648.1:c.5478delC NP_001394577.1:p.Gln1827Serfs frameshift NM_001407649.1:c.5475delC NP_001394578.1:p.Gln1826Serfs frameshift NM_001407652.1:c.5457delC NP_001394581.1:p.Gln1820Serfs frameshift NM_001407653.1:c.5457delC NP_001394582.1:p.Gln1820Serfs frameshift NM_001407654.1:c.5457delC NP_001394583.1:p.Gln1820Serfs frameshift NM_001407655.1:c.5457delC NP_001394584.1:p.Gln1820Serfs frameshift NM_001407656.1:c.5454delC NP_001394585.1:p.Gln1819Serfs frameshift NM_001407657.1:c.5454delC NP_001394586.1:p.Gln1819Serfs frameshift NM_001407658.1:c.5454delC NP_001394587.1:p.Gln1819Serfs frameshift NM_001407659.1:c.5451delC NP_001394588.1:p.Gln1818Serfs frameshift NM_001407660.1:c.5451delC NP_001394589.1:p.Gln1818Serfs frameshift NM_001407661.1:c.5451delC NP_001394590.1:p.Gln1818Serfs frameshift NM_001407662.1:c.5451delC NP_001394591.1:p.Gln1818Serfs frameshift NM_001407663.1:c.5451delC NP_001394592.1:p.Gln1818Serfs frameshift NM_001407664.1:c.5412delC NP_001394593.1:p.Gln1805Serfs frameshift NM_001407665.1:c.5412delC NP_001394594.1:p.Gln1805Serfs frameshift NM_001407666.1:c.5412delC NP_001394595.1:p.Gln1805Serfs frameshift NM_001407667.1:c.5412delC NP_001394596.1:p.Gln1805Serfs frameshift NM_001407668.1:c.5412delC NP_001394597.1:p.Gln1805Serfs frameshift NM_001407669.1:c.5412delC NP_001394598.1:p.Gln1805Serfs frameshift NM_001407670.1:c.5409delC NP_001394599.1:p.Gln1804Serfs frameshift NM_001407671.1:c.5409delC NP_001394600.1:p.Gln1804Serfs frameshift NM_001407672.1:c.5409delC NP_001394601.1:p.Gln1804Serfs frameshift NM_001407673.1:c.5409delC NP_001394602.1:p.Gln1804Serfs frameshift NM_001407674.1:c.5409delC NP_001394603.1:p.Gln1804Serfs frameshift NM_001407675.1:c.5409delC NP_001394604.1:p.Gln1804Serfs frameshift NM_001407676.1:c.5409delC NP_001394605.1:p.Gln1804Serfs frameshift NM_001407677.1:c.5409delC NP_001394606.1:p.Gln1804Serfs frameshift NM_001407678.1:c.5409delC NP_001394607.1:p.Gln1804Serfs frameshift NM_001407679.1:c.5409delC NP_001394608.1:p.Gln1804Serfs frameshift NM_001407680.1:c.5409delC NP_001394609.1:p.Gln1804Serfs frameshift NM_001407681.1:c.5406delC NP_001394610.1:p.Gln1803Serfs frameshift NM_001407682.1:c.5406delC NP_001394611.1:p.Gln1803Serfs frameshift NM_001407683.1:c.5406delC NP_001394612.1:p.Gln1803Serfs frameshift NM_001407684.1:c.5406delC NP_001394613.1:p.Gln1803Serfs frameshift NM_001407685.1:c.5406delC NP_001394614.1:p.Gln1803Serfs frameshift NM_001407686.1:c.5406delC NP_001394615.1:p.Gln1803Serfs frameshift NM_001407687.1:c.5406delC NP_001394616.1:p.Gln1803Serfs frameshift NM_001407688.1:c.5406delC NP_001394617.1:p.Gln1803Serfs frameshift NM_001407689.1:c.5406delC NP_001394618.1:p.Gln1803Serfs frameshift NM_001407690.1:c.5403delC NP_001394619.1:p.Gln1802Serfs frameshift NM_001407691.1:c.5403delC NP_001394620.1:p.Gln1802Serfs frameshift NM_001407692.1:c.5394delC NP_001394621.1:p.Gln1799Serfs frameshift NM_001407694.1:c.5394delC NP_001394623.1:p.Gln1799Serfs frameshift NM_001407695.1:c.5394delC NP_001394624.1:p.Gln1799Serfs frameshift NM_001407696.1:c.5394delC NP_001394625.1:p.Gln1799Serfs frameshift NM_001407697.1:c.5394delC NP_001394626.1:p.Gln1799Serfs frameshift NM_001407698.1:c.5394delC NP_001394627.1:p.Gln1799Serfs frameshift NM_001407724.1:c.5394delC NP_001394653.1:p.Gln1799Serfs frameshift NM_001407725.1:c.5394delC NP_001394654.1:p.Gln1799Serfs frameshift NM_001407726.1:c.5394delC NP_001394655.1:p.Gln1799Serfs frameshift NM_001407727.1:c.5394delC NP_001394656.1:p.Gln1799Serfs frameshift NM_001407728.1:c.5394delC NP_001394657.1:p.Gln1799Serfs frameshift NM_001407729.1:c.5394delC NP_001394658.1:p.Gln1799Serfs frameshift NM_001407730.1:c.5394delC NP_001394659.1:p.Gln1799Serfs frameshift NM_001407731.1:c.5394delC NP_001394660.1:p.Gln1799Serfs frameshift NM_001407732.1:c.5391delC NP_001394661.1:p.Gln1798Serfs frameshift NM_001407733.1:c.5391delC NP_001394662.1:p.Gln1798Serfs frameshift NM_001407734.1:c.5391delC NP_001394663.1:p.Gln1798Serfs frameshift NM_001407735.1:c.5391delC NP_001394664.1:p.Gln1798Serfs frameshift NM_001407736.1:c.5391delC NP_001394665.1:p.Gln1798Serfs frameshift NM_001407737.1:c.5391delC NP_001394666.1:p.Gln1798Serfs frameshift NM_001407738.1:c.5391delC NP_001394667.1:p.Gln1798Serfs frameshift NM_001407739.1:c.5391delC NP_001394668.1:p.Gln1798Serfs frameshift NM_001407740.1:c.5391delC NP_001394669.1:p.Gln1798Serfs frameshift NM_001407741.1:c.5391delC NP_001394670.1:p.Gln1798Serfs frameshift NM_001407742.1:c.5391delC NP_001394671.1:p.Gln1798Serfs frameshift NM_001407743.1:c.5391delC NP_001394672.1:p.Gln1798Serfs frameshift NM_001407744.1:c.5391delC NP_001394673.1:p.Gln1798Serfs frameshift NM_001407745.1:c.5391delC NP_001394674.1:p.Gln1798Serfs frameshift NM_001407746.1:c.5391delC NP_001394675.1:p.Gln1798Serfs frameshift NM_001407747.1:c.5391delC NP_001394676.1:p.Gln1798Serfs frameshift NM_001407748.1:c.5391delC NP_001394677.1:p.Gln1798Serfs frameshift NM_001407749.1:c.5391delC NP_001394678.1:p.Gln1798Serfs frameshift NM_001407750.1:c.5391delC NP_001394679.1:p.Gln1798Serfs frameshift NM_001407751.1:c.5391delC NP_001394680.1:p.Gln1798Serfs frameshift NM_001407752.1:c.5391delC NP_001394681.1:p.Gln1798Serfs frameshift NM_001407838.1:c.5388delC NP_001394767.1:p.Gln1797Serfs frameshift NM_001407839.1:c.5388delC NP_001394768.1:p.Gln1797Serfs frameshift NM_001407841.1:c.5388delC NP_001394770.1:p.Gln1797Serfs frameshift NM_001407842.1:c.5388delC NP_001394771.1:p.Gln1797Serfs frameshift NM_001407843.1:c.5388delC NP_001394772.1:p.Gln1797Serfs frameshift NM_001407844.1:c.5388delC NP_001394773.1:p.Gln1797Serfs frameshift NM_001407845.1:c.5388delC NP_001394774.1:p.Gln1797Serfs frameshift NM_001407846.1:c.5388delC NP_001394775.1:p.Gln1797Serfs frameshift NM_001407847.1:c.5388delC NP_001394776.1:p.Gln1797Serfs frameshift NM_001407848.1:c.5388delC NP_001394777.1:p.Gln1797Serfs frameshift NM_001407849.1:c.5388delC NP_001394778.1:p.Gln1797Serfs frameshift NM_001407850.1:c.5388delC NP_001394779.1:p.Gln1797Serfs frameshift NM_001407851.1:c.5388delC NP_001394780.1:p.Gln1797Serfs frameshift NM_001407852.1:c.5388delC NP_001394781.1:p.Gln1797Serfs frameshift NM_001407853.1:c.5388delC NP_001394782.1:p.Gln1797Serfs frameshift NM_001407854.1:c.*49delC NM_001407858.1:c.*49delC NM_001407859.1:c.*49delC NM_001407860.1:c.*49delC NM_001407861.1:c.*49delC NM_001407862.1:c.5334delC NP_001394791.1:p.Gln1779Serfs frameshift NM_001407863.1:c.5331delC NP_001394792.1:p.Gln1778Serfs frameshift NM_001407874.1:c.5328delC NP_001394803.1:p.Gln1777Serfs frameshift NM_001407875.1:c.5328delC NP_001394804.1:p.Gln1777Serfs frameshift NM_001407879.1:c.5325delC NP_001394808.1:p.Gln1776Serfs frameshift NM_001407881.1:c.5325delC NP_001394810.1:p.Gln1776Serfs frameshift NM_001407882.1:c.5325delC NP_001394811.1:p.Gln1776Serfs frameshift NM_001407884.1:c.5325delC NP_001394813.1:p.Gln1776Serfs frameshift NM_001407885.1:c.5325delC NP_001394814.1:p.Gln1776Serfs frameshift NM_001407886.1:c.5325delC NP_001394815.1:p.Gln1776Serfs frameshift NM_001407887.1:c.5325delC NP_001394816.1:p.Gln1776Serfs frameshift NM_001407889.1:c.5325delC NP_001394818.1:p.Gln1776Serfs frameshift NM_001407894.1:c.5322delC NP_001394823.1:p.Gln1775Serfs frameshift NM_001407895.1:c.5322delC NP_001394824.1:p.Gln1775Serfs frameshift NM_001407896.1:c.5322delC NP_001394825.1:p.Gln1775Serfs frameshift NM_001407897.1:c.5322delC NP_001394826.1:p.Gln1775Serfs frameshift NM_001407898.1:c.5322delC NP_001394827.1:p.Gln1775Serfs frameshift NM_001407899.1:c.5322delC NP_001394828.1:p.Gln1775Serfs frameshift NM_001407900.1:c.5322delC NP_001394829.1:p.Gln1775Serfs frameshift NM_001407902.1:c.5322delC NP_001394831.1:p.Gln1775Serfs frameshift NM_001407904.1:c.5322delC NP_001394833.1:p.Gln1775Serfs frameshift NM_001407906.1:c.5322delC NP_001394835.1:p.Gln1775Serfs frameshift NM_001407907.1:c.5322delC NP_001394836.1:p.Gln1775Serfs frameshift NM_001407908.1:c.5322delC NP_001394837.1:p.Gln1775Serfs frameshift NM_001407909.1:c.5322delC NP_001394838.1:p.Gln1775Serfs frameshift NM_001407910.1:c.5322delC NP_001394839.1:p.Gln1775Serfs frameshift NM_001407915.1:c.5319delC NP_001394844.1:p.Gln1774Serfs frameshift NM_001407916.1:c.5319delC NP_001394845.1:p.Gln1774Serfs frameshift NM_001407917.1:c.5319delC NP_001394846.1:p.Gln1774Serfs frameshift NM_001407918.1:c.5319delC NP_001394847.1:p.Gln1774Serfs frameshift NM_001407919.1:c.5283delC NP_001394848.1:p.Gln1762Serfs frameshift NM_001407920.1:c.5271delC NP_001394849.1:p.Gln1758Serfs frameshift NM_001407921.1:c.5271delC NP_001394850.1:p.Gln1758Serfs frameshift NM_001407922.1:c.5271delC NP_001394851.1:p.Gln1758Serfs frameshift NM_001407923.1:c.5271delC NP_001394852.1:p.Gln1758Serfs frameshift NM_001407924.1:c.5271delC NP_001394853.1:p.Gln1758Serfs frameshift NM_001407925.1:c.5271delC NP_001394854.1:p.Gln1758Serfs frameshift NM_001407926.1:c.5271delC NP_001394855.1:p.Gln1758Serfs frameshift NM_001407927.1:c.5268delC NP_001394856.1:p.Gln1757Serfs frameshift NM_001407928.1:c.5268delC NP_001394857.1:p.Gln1757Serfs frameshift NM_001407929.1:c.5268delC NP_001394858.1:p.Gln1757Serfs frameshift NM_001407930.1:c.5268delC NP_001394859.1:p.Gln1757Serfs frameshift NM_001407931.1:c.5268delC NP_001394860.1:p.Gln1757Serfs frameshift NM_001407932.1:c.5268delC NP_001394861.1:p.Gln1757Serfs frameshift NM_001407933.1:c.5268delC NP_001394862.1:p.Gln1757Serfs frameshift NM_001407934.1:c.5265delC NP_001394863.1:p.Gln1756Serfs frameshift NM_001407935.1:c.5265delC NP_001394864.1:p.Gln1756Serfs frameshift NM_001407936.1:c.5265delC NP_001394865.1:p.Gln1756Serfs frameshift NM_001407937.1:c.*49delC NM_001407938.1:c.*49delC NM_001407939.1:c.*49delC NM_001407940.1:c.*49delC NM_001407941.1:c.*49delC NM_001407942.1:c.*49delC NM_001407943.1:c.*49delC NM_001407944.1:c.*49delC NM_001407945.1:c.*49delC NM_001407946.1:c.5202delC NP_001394875.1:p.Gln1735Serfs frameshift NM_001407947.1:c.5202delC NP_001394876.1:p.Gln1735Serfs frameshift NM_001407948.1:c.5202delC NP_001394877.1:p.Gln1735Serfs frameshift NM_001407949.1:c.5202delC NP_001394878.1:p.Gln1735Serfs frameshift NM_001407950.1:c.5199delC NP_001394879.1:p.Gln1734Serfs frameshift NM_001407951.1:c.5199delC NP_001394880.1:p.Gln1734Serfs frameshift NM_001407952.1:c.5199delC NP_001394881.1:p.Gln1734Serfs frameshift NM_001407953.1:c.5199delC NP_001394882.1:p.Gln1734Serfs frameshift NM_001407954.1:c.5199delC NP_001394883.1:p.Gln1734Serfs frameshift NM_001407955.1:c.5199delC NP_001394884.1:p.Gln1734Serfs frameshift NM_001407956.1:c.5196delC NP_001394885.1:p.Gln1733Serfs frameshift NM_001407957.1:c.5196delC NP_001394886.1:p.Gln1733Serfs frameshift NM_001407958.1:c.5196delC NP_001394887.1:p.Gln1733Serfs frameshift NM_001407959.1:c.5154delC NP_001394888.1:p.Gln1719Serfs frameshift NM_001407960.1:c.5151delC NP_001394889.1:p.Gln1718Serfs frameshift NM_001407962.1:c.5151delC NP_001394891.1:p.Gln1718Serfs frameshift NM_001407963.1:c.5148delC NP_001394892.1:p.Gln1717Serfs frameshift NM_001407964.1:c.5073delC NP_001394893.1:p.Gln1692Serfs frameshift NM_001407965.1:c.5028delC NP_001394894.1:p.Gln1677Serfs frameshift NM_001407966.1:c.4647delC NP_001394895.1:p.Gln1550Serfs frameshift NM_001407967.1:c.4644delC NP_001394896.1:p.Gln1549Serfs frameshift NM_001407968.1:c.2931delC NP_001394897.1:p.Gln978Serfs frameshift NM_001407969.1:c.2928delC NP_001394898.1:p.Gln977Serfs frameshift NM_001407970.1:c.2292delC NP_001394899.1:p.Gln765Serfs frameshift NM_001407971.1:c.2292delC NP_001394900.1:p.Gln765Serfs frameshift NM_001407972.1:c.2289delC NP_001394901.1:p.Gln764Serfs frameshift NM_001407973.1:c.2226delC NP_001394902.1:p.Gln743Serfs frameshift NM_001407974.1:c.2226delC NP_001394903.1:p.Gln743Serfs frameshift NM_001407975.1:c.2226delC NP_001394904.1:p.Gln743Serfs frameshift NM_001407976.1:c.2226delC NP_001394905.1:p.Gln743Serfs frameshift NM_001407977.1:c.2226delC NP_001394906.1:p.Gln743Serfs frameshift NM_001407978.1:c.2226delC NP_001394907.1:p.Gln743Serfs frameshift NM_001407979.1:c.2223delC NP_001394908.1:p.Gln742Serfs frameshift NM_001407980.1:c.2223delC NP_001394909.1:p.Gln742Serfs frameshift NM_001407981.1:c.2223delC NP_001394910.1:p.Gln742Serfs frameshift NM_001407982.1:c.2223delC NP_001394911.1:p.Gln742Serfs frameshift NM_001407983.1:c.2223delC NP_001394912.1:p.Gln742Serfs frameshift NM_001407984.1:c.2223delC NP_001394913.1:p.Gln742Serfs frameshift NM_001407985.1:c.2223delC NP_001394914.1:p.Gln742Serfs frameshift NM_001407986.1:c.2223delC NP_001394915.1:p.Gln742Serfs frameshift NM_001407990.1:c.2223delC NP_001394919.1:p.Gln742Serfs frameshift NM_001407991.1:c.2223delC NP_001394920.1:p.Gln742Serfs frameshift NM_001407992.1:c.2223delC NP_001394921.1:p.Gln742Serfs frameshift NM_001407993.1:c.2223delC NP_001394922.1:p.Gln742Serfs frameshift NM_001408392.1:c.2220delC NP_001395321.1:p.Gln741Serfs frameshift NM_001408396.1:c.2220delC NP_001395325.1:p.Gln741Serfs frameshift NM_001408397.1:c.2220delC NP_001395326.1:p.Gln741Serfs frameshift NM_001408398.1:c.2220delC NP_001395327.1:p.Gln741Serfs frameshift NM_001408399.1:c.2220delC NP_001395328.1:p.Gln741Serfs frameshift NM_001408400.1:c.2220delC NP_001395329.1:p.Gln741Serfs frameshift NM_001408401.1:c.2220delC NP_001395330.1:p.Gln741Serfs frameshift NM_001408402.1:c.2220delC NP_001395331.1:p.Gln741Serfs frameshift NM_001408403.1:c.2220delC NP_001395332.1:p.Gln741Serfs frameshift NM_001408404.1:c.2220delC NP_001395333.1:p.Gln741Serfs frameshift NM_001408406.1:c.2217delC NP_001395335.1:p.Gln740Serfs frameshift NM_001408407.1:c.2217delC NP_001395336.1:p.Gln740Serfs frameshift NM_001408408.1:c.2217delC NP_001395337.1:p.Gln740Serfs frameshift NM_001408409.1:c.2214delC NP_001395338.1:p.Gln739Serfs frameshift NM_001408410.1:c.2151delC NP_001395339.1:p.Gln718Serfs frameshift NM_001408411.1:c.2148delC NP_001395340.1:p.Gln717Serfs frameshift NM_001408412.1:c.2145delC NP_001395341.1:p.Gln716Serfs frameshift NM_001408413.1:c.2145delC NP_001395342.1:p.Gln716Serfs frameshift NM_001408414.1:c.2145delC NP_001395343.1:p.Gln716Serfs frameshift NM_001408415.1:c.2145delC NP_001395344.1:p.Gln716Serfs frameshift NM_001408416.1:c.2145delC NP_001395345.1:p.Gln716Serfs frameshift NM_001408418.1:c.2109delC NP_001395347.1:p.Gln704Serfs frameshift NM_001408419.1:c.2109delC NP_001395348.1:p.Gln704Serfs frameshift NM_001408420.1:c.2109delC NP_001395349.1:p.Gln704Serfs frameshift NM_001408421.1:c.2106delC NP_001395350.1:p.Gln703Serfs frameshift NM_001408422.1:c.2106delC NP_001395351.1:p.Gln703Serfs frameshift NM_001408423.1:c.2106delC NP_001395352.1:p.Gln703Serfs frameshift NM_001408424.1:c.2106delC NP_001395353.1:p.Gln703Serfs frameshift NM_001408425.1:c.2103delC NP_001395354.1:p.Gln702Serfs frameshift NM_001408426.1:c.2103delC NP_001395355.1:p.Gln702Serfs frameshift NM_001408427.1:c.2103delC NP_001395356.1:p.Gln702Serfs frameshift NM_001408428.1:c.2103delC NP_001395357.1:p.Gln702Serfs frameshift NM_001408429.1:c.2103delC NP_001395358.1:p.Gln702Serfs frameshift NM_001408430.1:c.2103delC NP_001395359.1:p.Gln702Serfs frameshift NM_001408431.1:c.2103delC NP_001395360.1:p.Gln702Serfs frameshift NM_001408432.1:c.2100delC NP_001395361.1:p.Gln701Serfs frameshift NM_001408433.1:c.2100delC NP_001395362.1:p.Gln701Serfs frameshift NM_001408434.1:c.2100delC NP_001395363.1:p.Gln701Serfs frameshift NM_001408435.1:c.2100delC NP_001395364.1:p.Gln701Serfs frameshift NM_001408436.1:c.2100delC NP_001395365.1:p.Gln701Serfs frameshift NM_001408437.1:c.2100delC NP_001395366.1:p.Gln701Serfs frameshift NM_001408438.1:c.2100delC NP_001395367.1:p.Gln701Serfs frameshift NM_001408439.1:c.2100delC NP_001395368.1:p.Gln701Serfs frameshift NM_001408440.1:c.2100delC NP_001395369.1:p.Gln701Serfs frameshift NM_001408441.1:c.2100delC NP_001395370.1:p.Gln701Serfs frameshift NM_001408442.1:c.2100delC NP_001395371.1:p.Gln701Serfs frameshift NM_001408443.1:c.2100delC NP_001395372.1:p.Gln701Serfs frameshift NM_001408444.1:c.2100delC NP_001395373.1:p.Gln701Serfs frameshift NM_001408445.1:c.2097delC NP_001395374.1:p.Gln700Serfs frameshift NM_001408446.1:c.2097delC NP_001395375.1:p.Gln700Serfs frameshift NM_001408447.1:c.2097delC NP_001395376.1:p.Gln700Serfs frameshift NM_001408448.1:c.2097delC NP_001395377.1:p.Gln700Serfs frameshift NM_001408450.1:c.2097delC NP_001395379.1:p.Gln700Serfs frameshift NM_001408451.1:c.2091delC NP_001395380.1:p.Gln698Serfs frameshift NM_001408452.1:c.2085delC NP_001395381.1:p.Gln696Serfs frameshift NM_001408453.1:c.2085delC NP_001395382.1:p.Gln696Serfs frameshift NM_001408454.1:c.2085delC NP_001395383.1:p.Gln696Serfs frameshift NM_001408455.1:c.2085delC NP_001395384.1:p.Gln696Serfs frameshift NM_001408456.1:c.2085delC NP_001395385.1:p.Gln696Serfs frameshift NM_001408457.1:c.2085delC NP_001395386.1:p.Gln696Serfs frameshift NM_001408458.1:c.2082delC NP_001395387.1:p.Gln695Serfs frameshift NM_001408459.1:c.2082delC NP_001395388.1:p.Gln695Serfs frameshift NM_001408460.1:c.2082delC NP_001395389.1:p.Gln695Serfs frameshift NM_001408461.1:c.2082delC NP_001395390.1:p.Gln695Serfs frameshift NM_001408462.1:c.2082delC NP_001395391.1:p.Gln695Serfs frameshift NM_001408463.1:c.2082delC NP_001395392.1:p.Gln695Serfs frameshift NM_001408464.1:c.2082delC NP_001395393.1:p.Gln695Serfs frameshift NM_001408465.1:c.2082delC NP_001395394.1:p.Gln695Serfs frameshift NM_001408466.1:c.2082delC NP_001395395.1:p.Gln695Serfs frameshift NM_001408467.1:c.2082delC NP_001395396.1:p.Gln695Serfs frameshift NM_001408468.1:c.2079delC NP_001395397.1:p.Gln694Serfs frameshift NM_001408469.1:c.2079delC NP_001395398.1:p.Gln694Serfs frameshift NM_001408470.1:c.2079delC NP_001395399.1:p.Gln694Serfs frameshift NM_001408472.1:c.*49delC NM_001408473.1:c.*49delC NM_001408474.1:c.2025delC NP_001395403.1:p.Gln676Serfs frameshift NM_001408475.1:c.2022delC NP_001395404.1:p.Gln675Serfs frameshift NM_001408476.1:c.2022delC NP_001395405.1:p.Gln675Serfs frameshift NM_001408478.1:c.2016delC NP_001395407.1:p.Gln673Serfs frameshift NM_001408479.1:c.2016delC NP_001395408.1:p.Gln673Serfs frameshift NM_001408480.1:c.2016delC NP_001395409.1:p.Gln673Serfs frameshift NM_001408481.1:c.2013delC NP_001395410.1:p.Gln672Serfs frameshift NM_001408482.1:c.2013delC NP_001395411.1:p.Gln672Serfs frameshift NM_001408483.1:c.2013delC NP_001395412.1:p.Gln672Serfs frameshift NM_001408484.1:c.2013delC NP_001395413.1:p.Gln672Serfs frameshift NM_001408485.1:c.2013delC NP_001395414.1:p.Gln672Serfs frameshift NM_001408489.1:c.2013delC NP_001395418.1:p.Gln672Serfs frameshift NM_001408490.1:c.2013delC NP_001395419.1:p.Gln672Serfs frameshift NM_001408491.1:c.2013delC NP_001395420.1:p.Gln672Serfs frameshift NM_001408492.1:c.2010delC NP_001395421.1:p.Gln671Serfs frameshift NM_001408493.1:c.2010delC NP_001395422.1:p.Gln671Serfs frameshift NM_001408494.1:c.1986delC NP_001395423.1:p.Gln663Serfs frameshift NM_001408495.1:c.1980delC NP_001395424.1:p.Gln661Serfs frameshift NM_001408496.1:c.1962delC NP_001395425.1:p.Gln655Serfs frameshift NM_001408497.1:c.1962delC NP_001395426.1:p.Gln655Serfs frameshift NM_001408498.1:c.1962delC NP_001395427.1:p.Gln655Serfs frameshift NM_001408499.1:c.1962delC NP_001395428.1:p.Gln655Serfs frameshift NM_001408500.1:c.1962delC NP_001395429.1:p.Gln655Serfs frameshift NM_001408501.1:c.1962delC NP_001395430.1:p.Gln655Serfs frameshift NM_001408502.1:c.1959delC NP_001395431.1:p.Gln654Serfs frameshift NM_001408503.1:c.1959delC NP_001395432.1:p.Gln654Serfs frameshift NM_001408504.1:c.1959delC NP_001395433.1:p.Gln654Serfs frameshift NM_001408505.1:c.1956delC NP_001395434.1:p.Gln653Serfs frameshift NM_001408506.1:c.1899delC NP_001395435.1:p.Gln634Serfs frameshift NM_001408507.1:c.1896delC NP_001395436.1:p.Gln633Serfs frameshift NM_001408508.1:c.1887delC NP_001395437.1:p.Gln630Serfs frameshift NM_001408509.1:c.1884delC NP_001395438.1:p.Gln629Serfs frameshift NM_001408510.1:c.1845delC NP_001395439.1:p.Gln616Serfs frameshift NM_001408511.1:c.1842delC NP_001395440.1:p.Gln615Serfs frameshift NM_001408512.1:c.1722delC NP_001395441.1:p.Gln575Serfs frameshift NM_001408513.1:c.1695delC NP_001395442.1:p.Gln566Serfs frameshift NM_001408514.1:c.1299delC NP_001395443.1:p.Gln434Serfs frameshift NM_007294.3:c.5535delC NP_009225.1:p.Gln1846Serfs frameshift NM_007297.4:c.5395del NP_009228.2:p.Gln1799fs frameshift NM_007298.4:c.2223delC NP_009229.2:p.Gln742Serfs frameshift NM_007299.4:c.*50del 3 prime UTR NM_007300.4:c.5599del NP_009231.2:p.Gln1867fs frameshift NM_007304.2:c.2223delC NP_009235.2:p.Gln742Serfs frameshift NR_027676.2:n.5713del non-coding transcript variant NC_000017.11:g.43045735del NC_000017.10:g.41197752del NG_005905.2:g.172250del LRG_292:g.172250del LRG_292t1:c.5536del LRG_292p1:p.Gln1846fs - Protein change
- Q1867fs, Q742fs, Q1846fs, Q1799fs
- Other names
- 5655delC
- Canonical SPDI
- NC_000017.11:43045733:GG:G
-
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.
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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 |
12752 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257265.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(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: SCV000323885.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
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 rs886040301 ...
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.