ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5518del (p.Asp1840fs)
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.5518del (p.Asp1840fs)
Variation ID: 548201 Accession: VCV000548201.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045752 (GRCh38) [ NCBI UCSC ] 17: 41197769 (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 Feb 14, 2024 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5518del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1840fs frameshift NM_001407571.1:c.5304delG NP_001394500.1:p.Asp1769Thrfs frameshift NM_001407581.1:c.5583delG NP_001394510.1:p.Asp1862Thrfs frameshift NM_001407582.1:c.5583delG NP_001394511.1:p.Asp1862Thrfs frameshift NM_001407583.1:c.5580delG NP_001394512.1:p.Asp1861Thrfs frameshift NM_001407585.1:c.5580delG NP_001394514.1:p.Asp1861Thrfs frameshift NM_001407587.1:c.5580delG NP_001394516.1:p.Asp1861Thrfs frameshift NM_001407590.1:c.5577delG NP_001394519.1:p.Asp1860Thrfs frameshift NM_001407591.1:c.5577delG NP_001394520.1:p.Asp1860Thrfs frameshift NM_001407593.1:c.5517delG NP_001394522.1:p.Asp1840Thrfs frameshift NM_001407594.1:c.5517delG NP_001394523.1:p.Asp1840Thrfs frameshift NM_001407596.1:c.5517delG NP_001394525.1:p.Asp1840Thrfs frameshift NM_001407597.1:c.5517delG NP_001394526.1:p.Asp1840Thrfs frameshift NM_001407598.1:c.5517delG NP_001394527.1:p.Asp1840Thrfs frameshift NM_001407602.1:c.5517delG NP_001394531.1:p.Asp1840Thrfs frameshift NM_001407603.1:c.5517delG NP_001394532.1:p.Asp1840Thrfs frameshift NM_001407605.1:c.5517delG NP_001394534.1:p.Asp1840Thrfs frameshift NM_001407610.1:c.5514delG NP_001394539.1:p.Asp1839Thrfs frameshift NM_001407611.1:c.5514delG NP_001394540.1:p.Asp1839Thrfs frameshift NM_001407612.1:c.5514delG NP_001394541.1:p.Asp1839Thrfs frameshift NM_001407613.1:c.5514delG NP_001394542.1:p.Asp1839Thrfs frameshift NM_001407614.1:c.5514delG NP_001394543.1:p.Asp1839Thrfs frameshift NM_001407615.1:c.5514delG NP_001394544.1:p.Asp1839Thrfs frameshift NM_001407616.1:c.5514delG NP_001394545.1:p.Asp1839Thrfs frameshift NM_001407617.1:c.5514delG NP_001394546.1:p.Asp1839Thrfs frameshift NM_001407618.1:c.5514delG NP_001394547.1:p.Asp1839Thrfs frameshift NM_001407619.1:c.5514delG NP_001394548.1:p.Asp1839Thrfs frameshift NM_001407620.1:c.5514delG NP_001394549.1:p.Asp1839Thrfs frameshift NM_001407621.1:c.5514delG NP_001394550.1:p.Asp1839Thrfs frameshift NM_001407622.1:c.5514delG NP_001394551.1:p.Asp1839Thrfs frameshift NM_001407623.1:c.5514delG NP_001394552.1:p.Asp1839Thrfs frameshift NM_001407624.1:c.5514delG NP_001394553.1:p.Asp1839Thrfs frameshift NM_001407625.1:c.5514delG NP_001394554.1:p.Asp1839Thrfs frameshift NM_001407626.1:c.5514delG NP_001394555.1:p.Asp1839Thrfs frameshift NM_001407627.1:c.5511delG NP_001394556.1:p.Asp1838Thrfs frameshift NM_001407628.1:c.5511delG NP_001394557.1:p.Asp1838Thrfs frameshift NM_001407629.1:c.5511delG NP_001394558.1:p.Asp1838Thrfs frameshift NM_001407630.1:c.5511delG NP_001394559.1:p.Asp1838Thrfs frameshift NM_001407631.1:c.5511delG NP_001394560.1:p.Asp1838Thrfs frameshift NM_001407632.1:c.5511delG NP_001394561.1:p.Asp1838Thrfs frameshift NM_001407633.1:c.5511delG NP_001394562.1:p.Asp1838Thrfs frameshift NM_001407634.1:c.5511delG NP_001394563.1:p.Asp1838Thrfs frameshift NM_001407635.1:c.5511delG NP_001394564.1:p.Asp1838Thrfs frameshift NM_001407636.1:c.5511delG NP_001394565.1:p.Asp1838Thrfs frameshift NM_001407637.1:c.5511delG NP_001394566.1:p.Asp1838Thrfs frameshift NM_001407638.1:c.5511delG NP_001394567.1:p.Asp1838Thrfs frameshift NM_001407639.1:c.5511delG NP_001394568.1:p.Asp1838Thrfs frameshift NM_001407640.1:c.5511delG NP_001394569.1:p.Asp1838Thrfs frameshift NM_001407641.1:c.5511delG NP_001394570.1:p.Asp1838Thrfs frameshift NM_001407642.1:c.5511delG NP_001394571.1:p.Asp1838Thrfs frameshift NM_001407644.1:c.5508delG NP_001394573.1:p.Asp1837Thrfs frameshift NM_001407645.1:c.5508delG NP_001394574.1:p.Asp1837Thrfs frameshift NM_001407646.1:c.5505delG NP_001394575.1:p.Asp1836Thrfs frameshift NM_001407647.1:c.5502delG NP_001394576.1:p.Asp1835Thrfs frameshift NM_001407648.1:c.5460delG NP_001394577.1:p.Asp1821Thrfs frameshift NM_001407649.1:c.5457delG NP_001394578.1:p.Asp1820Thrfs frameshift NM_001407652.1:c.5439delG NP_001394581.1:p.Asp1814Thrfs frameshift NM_001407653.1:c.5439delG NP_001394582.1:p.Asp1814Thrfs frameshift NM_001407654.1:c.5439delG NP_001394583.1:p.Asp1814Thrfs frameshift NM_001407655.1:c.5439delG NP_001394584.1:p.Asp1814Thrfs frameshift NM_001407656.1:c.5436delG NP_001394585.1:p.Asp1813Thrfs frameshift NM_001407657.1:c.5436delG NP_001394586.1:p.Asp1813Thrfs frameshift NM_001407658.1:c.5436delG NP_001394587.1:p.Asp1813Thrfs frameshift NM_001407659.1:c.5433delG NP_001394588.1:p.Asp1812Thrfs frameshift NM_001407660.1:c.5433delG NP_001394589.1:p.Asp1812Thrfs frameshift NM_001407661.1:c.5433delG NP_001394590.1:p.Asp1812Thrfs frameshift NM_001407662.1:c.5433delG NP_001394591.1:p.Asp1812Thrfs frameshift NM_001407663.1:c.5433delG NP_001394592.1:p.Asp1812Thrfs frameshift NM_001407664.1:c.5394delG NP_001394593.1:p.Asp1799Thrfs frameshift NM_001407665.1:c.5394delG NP_001394594.1:p.Asp1799Thrfs frameshift NM_001407666.1:c.5394delG NP_001394595.1:p.Asp1799Thrfs frameshift NM_001407667.1:c.5394delG NP_001394596.1:p.Asp1799Thrfs frameshift NM_001407668.1:c.5394delG NP_001394597.1:p.Asp1799Thrfs frameshift NM_001407669.1:c.5394delG NP_001394598.1:p.Asp1799Thrfs frameshift NM_001407670.1:c.5391delG NP_001394599.1:p.Asp1798Thrfs frameshift NM_001407671.1:c.5391delG NP_001394600.1:p.Asp1798Thrfs frameshift NM_001407672.1:c.5391delG NP_001394601.1:p.Asp1798Thrfs frameshift NM_001407673.1:c.5391delG NP_001394602.1:p.Asp1798Thrfs frameshift NM_001407674.1:c.5391delG NP_001394603.1:p.Asp1798Thrfs frameshift NM_001407675.1:c.5391delG NP_001394604.1:p.Asp1798Thrfs frameshift NM_001407676.1:c.5391delG NP_001394605.1:p.Asp1798Thrfs frameshift NM_001407677.1:c.5391delG NP_001394606.1:p.Asp1798Thrfs frameshift NM_001407678.1:c.5391delG NP_001394607.1:p.Asp1798Thrfs frameshift NM_001407679.1:c.5391delG NP_001394608.1:p.Asp1798Thrfs frameshift NM_001407680.1:c.5391delG NP_001394609.1:p.Asp1798Thrfs frameshift NM_001407681.1:c.5388delG NP_001394610.1:p.Asp1797Thrfs frameshift NM_001407682.1:c.5388delG NP_001394611.1:p.Asp1797Thrfs frameshift NM_001407683.1:c.5388delG NP_001394612.1:p.Asp1797Thrfs frameshift NM_001407684.1:c.5388delG NP_001394613.1:p.Asp1797Thrfs frameshift NM_001407685.1:c.5388delG NP_001394614.1:p.Asp1797Thrfs frameshift NM_001407686.1:c.5388delG NP_001394615.1:p.Asp1797Thrfs frameshift NM_001407687.1:c.5388delG NP_001394616.1:p.Asp1797Thrfs frameshift NM_001407688.1:c.5388delG NP_001394617.1:p.Asp1797Thrfs frameshift NM_001407689.1:c.5388delG NP_001394618.1:p.Asp1797Thrfs frameshift NM_001407690.1:c.5385delG NP_001394619.1:p.Asp1796Thrfs frameshift NM_001407691.1:c.5385delG NP_001394620.1:p.Asp1796Thrfs frameshift NM_001407692.1:c.5376delG NP_001394621.1:p.Asp1793Thrfs frameshift NM_001407694.1:c.5376delG NP_001394623.1:p.Asp1793Thrfs frameshift NM_001407695.1:c.5376delG NP_001394624.1:p.Asp1793Thrfs frameshift NM_001407696.1:c.5376delG NP_001394625.1:p.Asp1793Thrfs frameshift NM_001407697.1:c.5376delG NP_001394626.1:p.Asp1793Thrfs frameshift NM_001407698.1:c.5376delG NP_001394627.1:p.Asp1793Thrfs frameshift NM_001407724.1:c.5376delG NP_001394653.1:p.Asp1793Thrfs frameshift NM_001407725.1:c.5376delG NP_001394654.1:p.Asp1793Thrfs frameshift NM_001407726.1:c.5376delG NP_001394655.1:p.Asp1793Thrfs frameshift NM_001407727.1:c.5376delG NP_001394656.1:p.Asp1793Thrfs frameshift NM_001407728.1:c.5376delG NP_001394657.1:p.Asp1793Thrfs frameshift NM_001407729.1:c.5376delG NP_001394658.1:p.Asp1793Thrfs frameshift NM_001407730.1:c.5376delG NP_001394659.1:p.Asp1793Thrfs frameshift NM_001407731.1:c.5376delG NP_001394660.1:p.Asp1793Thrfs frameshift NM_001407732.1:c.5373delG NP_001394661.1:p.Asp1792Thrfs frameshift NM_001407733.1:c.5373delG NP_001394662.1:p.Asp1792Thrfs frameshift NM_001407734.1:c.5373delG NP_001394663.1:p.Asp1792Thrfs frameshift NM_001407735.1:c.5373delG NP_001394664.1:p.Asp1792Thrfs frameshift NM_001407736.1:c.5373delG NP_001394665.1:p.Asp1792Thrfs frameshift NM_001407737.1:c.5373delG NP_001394666.1:p.Asp1792Thrfs frameshift NM_001407738.1:c.5373delG NP_001394667.1:p.Asp1792Thrfs frameshift NM_001407739.1:c.5373delG NP_001394668.1:p.Asp1792Thrfs frameshift NM_001407740.1:c.5373delG NP_001394669.1:p.Asp1792Thrfs frameshift NM_001407741.1:c.5373delG NP_001394670.1:p.Asp1792Thrfs frameshift NM_001407742.1:c.5373delG NP_001394671.1:p.Asp1792Thrfs frameshift NM_001407743.1:c.5373delG NP_001394672.1:p.Asp1792Thrfs frameshift NM_001407744.1:c.5373delG NP_001394673.1:p.Asp1792Thrfs frameshift NM_001407745.1:c.5373delG NP_001394674.1:p.Asp1792Thrfs frameshift NM_001407746.1:c.5373delG NP_001394675.1:p.Asp1792Thrfs frameshift NM_001407747.1:c.5373delG NP_001394676.1:p.Asp1792Thrfs frameshift NM_001407748.1:c.5373delG NP_001394677.1:p.Asp1792Thrfs frameshift NM_001407749.1:c.5373delG NP_001394678.1:p.Asp1792Thrfs frameshift NM_001407750.1:c.5373delG NP_001394679.1:p.Asp1792Thrfs frameshift NM_001407751.1:c.5373delG NP_001394680.1:p.Asp1792Thrfs frameshift NM_001407752.1:c.5373delG NP_001394681.1:p.Asp1792Thrfs frameshift NM_001407838.1:c.5370delG NP_001394767.1:p.Asp1791Thrfs frameshift NM_001407839.1:c.5370delG NP_001394768.1:p.Asp1791Thrfs frameshift NM_001407841.1:c.5370delG NP_001394770.1:p.Asp1791Thrfs frameshift NM_001407842.1:c.5370delG NP_001394771.1:p.Asp1791Thrfs frameshift NM_001407843.1:c.5370delG NP_001394772.1:p.Asp1791Thrfs frameshift NM_001407844.1:c.5370delG NP_001394773.1:p.Asp1791Thrfs frameshift NM_001407845.1:c.5370delG NP_001394774.1:p.Asp1791Thrfs frameshift NM_001407846.1:c.5370delG NP_001394775.1:p.Asp1791Thrfs frameshift NM_001407847.1:c.5370delG NP_001394776.1:p.Asp1791Thrfs frameshift NM_001407848.1:c.5370delG NP_001394777.1:p.Asp1791Thrfs frameshift NM_001407849.1:c.5370delG NP_001394778.1:p.Asp1791Thrfs frameshift NM_001407850.1:c.5370delG NP_001394779.1:p.Asp1791Thrfs frameshift NM_001407851.1:c.5370delG NP_001394780.1:p.Asp1791Thrfs frameshift NM_001407852.1:c.5370delG NP_001394781.1:p.Asp1791Thrfs frameshift NM_001407853.1:c.5370delG NP_001394782.1:p.Asp1791Thrfs frameshift NM_001407854.1:c.*31delG NM_001407858.1:c.*31delG NM_001407859.1:c.*31delG NM_001407860.1:c.*31delG NM_001407861.1:c.*31delG NM_001407862.1:c.5316delG NP_001394791.1:p.Asp1773Thrfs frameshift NM_001407863.1:c.5313delG NP_001394792.1:p.Asp1772Thrfs frameshift NM_001407874.1:c.5310delG NP_001394803.1:p.Asp1771Thrfs frameshift NM_001407875.1:c.5310delG NP_001394804.1:p.Asp1771Thrfs frameshift NM_001407879.1:c.5307delG NP_001394808.1:p.Asp1770Thrfs frameshift NM_001407881.1:c.5307delG NP_001394810.1:p.Asp1770Thrfs frameshift NM_001407882.1:c.5307delG NP_001394811.1:p.Asp1770Thrfs frameshift NM_001407884.1:c.5307delG NP_001394813.1:p.Asp1770Thrfs frameshift NM_001407885.1:c.5307delG NP_001394814.1:p.Asp1770Thrfs frameshift NM_001407886.1:c.5307delG NP_001394815.1:p.Asp1770Thrfs frameshift NM_001407887.1:c.5307delG NP_001394816.1:p.Asp1770Thrfs frameshift NM_001407889.1:c.5307delG NP_001394818.1:p.Asp1770Thrfs frameshift NM_001407894.1:c.5304delG NP_001394823.1:p.Asp1769Thrfs frameshift NM_001407895.1:c.5304delG NP_001394824.1:p.Asp1769Thrfs frameshift NM_001407896.1:c.5304delG NP_001394825.1:p.Asp1769Thrfs frameshift NM_001407897.1:c.5304delG NP_001394826.1:p.Asp1769Thrfs frameshift NM_001407898.1:c.5304delG NP_001394827.1:p.Asp1769Thrfs frameshift NM_001407899.1:c.5304delG NP_001394828.1:p.Asp1769Thrfs frameshift NM_001407900.1:c.5304delG NP_001394829.1:p.Asp1769Thrfs frameshift NM_001407902.1:c.5304delG NP_001394831.1:p.Asp1769Thrfs frameshift NM_001407904.1:c.5304delG NP_001394833.1:p.Asp1769Thrfs frameshift NM_001407906.1:c.5304delG NP_001394835.1:p.Asp1769Thrfs frameshift NM_001407907.1:c.5304delG NP_001394836.1:p.Asp1769Thrfs frameshift NM_001407908.1:c.5304delG NP_001394837.1:p.Asp1769Thrfs frameshift NM_001407909.1:c.5304delG NP_001394838.1:p.Asp1769Thrfs frameshift NM_001407910.1:c.5304delG NP_001394839.1:p.Asp1769Thrfs frameshift NM_001407915.1:c.5301delG NP_001394844.1:p.Asp1768Thrfs frameshift NM_001407916.1:c.5301delG NP_001394845.1:p.Asp1768Thrfs frameshift NM_001407917.1:c.5301delG NP_001394846.1:p.Asp1768Thrfs frameshift NM_001407918.1:c.5301delG NP_001394847.1:p.Asp1768Thrfs frameshift NM_001407919.1:c.5265delG NP_001394848.1:p.Asp1756Thrfs frameshift NM_001407920.1:c.5253delG NP_001394849.1:p.Asp1752Thrfs frameshift NM_001407921.1:c.5253delG NP_001394850.1:p.Asp1752Thrfs frameshift NM_001407922.1:c.5253delG NP_001394851.1:p.Asp1752Thrfs frameshift NM_001407923.1:c.5253delG NP_001394852.1:p.Asp1752Thrfs frameshift NM_001407924.1:c.5253delG NP_001394853.1:p.Asp1752Thrfs frameshift NM_001407925.1:c.5253delG NP_001394854.1:p.Asp1752Thrfs frameshift NM_001407926.1:c.5253delG NP_001394855.1:p.Asp1752Thrfs frameshift NM_001407927.1:c.5250delG NP_001394856.1:p.Asp1751Thrfs frameshift NM_001407928.1:c.5250delG NP_001394857.1:p.Asp1751Thrfs frameshift NM_001407929.1:c.5250delG NP_001394858.1:p.Asp1751Thrfs frameshift NM_001407930.1:c.5250delG NP_001394859.1:p.Asp1751Thrfs frameshift NM_001407931.1:c.5250delG NP_001394860.1:p.Asp1751Thrfs frameshift NM_001407932.1:c.5250delG NP_001394861.1:p.Asp1751Thrfs frameshift NM_001407933.1:c.5250delG NP_001394862.1:p.Asp1751Thrfs frameshift NM_001407934.1:c.5247delG NP_001394863.1:p.Asp1750Thrfs frameshift NM_001407935.1:c.5247delG NP_001394864.1:p.Asp1750Thrfs frameshift NM_001407936.1:c.5247delG NP_001394865.1:p.Asp1750Thrfs frameshift NM_001407937.1:c.*31delG NM_001407938.1:c.*31delG NM_001407939.1:c.*31delG NM_001407940.1:c.*31delG NM_001407941.1:c.*31delG NM_001407942.1:c.*31delG NM_001407943.1:c.*31delG NM_001407944.1:c.*31delG NM_001407945.1:c.*31delG NM_001407946.1:c.5184delG NP_001394875.1:p.Asp1729Thrfs frameshift NM_001407947.1:c.5184delG NP_001394876.1:p.Asp1729Thrfs frameshift NM_001407948.1:c.5184delG NP_001394877.1:p.Asp1729Thrfs frameshift NM_001407949.1:c.5184delG NP_001394878.1:p.Asp1729Thrfs frameshift NM_001407950.1:c.5181delG NP_001394879.1:p.Asp1728Thrfs frameshift NM_001407951.1:c.5181delG NP_001394880.1:p.Asp1728Thrfs frameshift NM_001407952.1:c.5181delG NP_001394881.1:p.Asp1728Thrfs frameshift NM_001407953.1:c.5181delG NP_001394882.1:p.Asp1728Thrfs frameshift NM_001407954.1:c.5181delG NP_001394883.1:p.Asp1728Thrfs frameshift NM_001407955.1:c.5181delG NP_001394884.1:p.Asp1728Thrfs frameshift NM_001407956.1:c.5178delG NP_001394885.1:p.Asp1727Thrfs frameshift NM_001407957.1:c.5178delG NP_001394886.1:p.Asp1727Thrfs frameshift NM_001407958.1:c.5178delG NP_001394887.1:p.Asp1727Thrfs frameshift NM_001407959.1:c.5136delG NP_001394888.1:p.Asp1713Thrfs frameshift NM_001407960.1:c.5133delG NP_001394889.1:p.Asp1712Thrfs frameshift NM_001407962.1:c.5133delG NP_001394891.1:p.Asp1712Thrfs frameshift NM_001407963.1:c.5130delG NP_001394892.1:p.Asp1711Thrfs frameshift NM_001407964.1:c.5055delG NP_001394893.1:p.Asp1686Thrfs frameshift NM_001407965.1:c.5010delG NP_001394894.1:p.Asp1671Thrfs frameshift NM_001407966.1:c.4629delG NP_001394895.1:p.Asp1544Thrfs frameshift NM_001407967.1:c.4626delG NP_001394896.1:p.Asp1543Thrfs frameshift NM_001407968.1:c.2913delG NP_001394897.1:p.Asp972Thrfs frameshift NM_001407969.1:c.2910delG NP_001394898.1:p.Asp971Thrfs frameshift NM_001407970.1:c.2274delG NP_001394899.1:p.Asp759Thrfs frameshift NM_001407971.1:c.2274delG NP_001394900.1:p.Asp759Thrfs frameshift NM_001407972.1:c.2271delG NP_001394901.1:p.Asp758Thrfs frameshift NM_001407973.1:c.2208delG NP_001394902.1:p.Asp737Thrfs frameshift NM_001407974.1:c.2208delG NP_001394903.1:p.Asp737Thrfs frameshift NM_001407975.1:c.2208delG NP_001394904.1:p.Asp737Thrfs frameshift NM_001407976.1:c.2208delG NP_001394905.1:p.Asp737Thrfs frameshift NM_001407977.1:c.2208delG NP_001394906.1:p.Asp737Thrfs frameshift NM_001407978.1:c.2208delG NP_001394907.1:p.Asp737Thrfs frameshift NM_001407979.1:c.2205delG NP_001394908.1:p.Asp736Thrfs frameshift NM_001407980.1:c.2205delG NP_001394909.1:p.Asp736Thrfs frameshift NM_001407981.1:c.2205delG NP_001394910.1:p.Asp736Thrfs frameshift NM_001407982.1:c.2205delG NP_001394911.1:p.Asp736Thrfs frameshift NM_001407983.1:c.2205delG NP_001394912.1:p.Asp736Thrfs frameshift NM_001407984.1:c.2205delG NP_001394913.1:p.Asp736Thrfs frameshift NM_001407985.1:c.2205delG NP_001394914.1:p.Asp736Thrfs frameshift NM_001407986.1:c.2205delG NP_001394915.1:p.Asp736Thrfs frameshift NM_001407990.1:c.2205delG NP_001394919.1:p.Asp736Thrfs frameshift NM_001407991.1:c.2205delG NP_001394920.1:p.Asp736Thrfs frameshift NM_001407992.1:c.2205delG NP_001394921.1:p.Asp736Thrfs frameshift NM_001407993.1:c.2205delG NP_001394922.1:p.Asp736Thrfs frameshift NM_001408392.1:c.2202delG NP_001395321.1:p.Asp735Thrfs frameshift NM_001408396.1:c.2202delG NP_001395325.1:p.Asp735Thrfs frameshift NM_001408397.1:c.2202delG NP_001395326.1:p.Asp735Thrfs frameshift NM_001408398.1:c.2202delG NP_001395327.1:p.Asp735Thrfs frameshift NM_001408399.1:c.2202delG NP_001395328.1:p.Asp735Thrfs frameshift NM_001408400.1:c.2202delG NP_001395329.1:p.Asp735Thrfs frameshift NM_001408401.1:c.2202delG NP_001395330.1:p.Asp735Thrfs frameshift NM_001408402.1:c.2202delG NP_001395331.1:p.Asp735Thrfs frameshift NM_001408403.1:c.2202delG NP_001395332.1:p.Asp735Thrfs frameshift NM_001408404.1:c.2202delG NP_001395333.1:p.Asp735Thrfs frameshift NM_001408406.1:c.2199delG NP_001395335.1:p.Asp734Thrfs frameshift NM_001408407.1:c.2199delG NP_001395336.1:p.Asp734Thrfs frameshift NM_001408408.1:c.2199delG NP_001395337.1:p.Asp734Thrfs frameshift NM_001408409.1:c.2196delG NP_001395338.1:p.Asp733Thrfs frameshift NM_001408410.1:c.2133delG NP_001395339.1:p.Asp712Thrfs frameshift NM_001408411.1:c.2130delG NP_001395340.1:p.Asp711Thrfs frameshift NM_001408412.1:c.2127delG NP_001395341.1:p.Asp710Thrfs frameshift NM_001408413.1:c.2127delG NP_001395342.1:p.Asp710Thrfs frameshift NM_001408414.1:c.2127delG NP_001395343.1:p.Asp710Thrfs frameshift NM_001408415.1:c.2127delG NP_001395344.1:p.Asp710Thrfs frameshift NM_001408416.1:c.2127delG NP_001395345.1:p.Asp710Thrfs frameshift NM_001408418.1:c.2091delG NP_001395347.1:p.Asp698Thrfs frameshift NM_001408419.1:c.2091delG NP_001395348.1:p.Asp698Thrfs frameshift NM_001408420.1:c.2091delG NP_001395349.1:p.Asp698Thrfs frameshift NM_001408421.1:c.2088delG NP_001395350.1:p.Asp697Thrfs frameshift NM_001408422.1:c.2088delG NP_001395351.1:p.Asp697Thrfs frameshift NM_001408423.1:c.2088delG NP_001395352.1:p.Asp697Thrfs frameshift NM_001408424.1:c.2088delG NP_001395353.1:p.Asp697Thrfs frameshift NM_001408425.1:c.2085delG NP_001395354.1:p.Asp696Thrfs frameshift NM_001408426.1:c.2085delG NP_001395355.1:p.Asp696Thrfs frameshift NM_001408427.1:c.2085delG NP_001395356.1:p.Asp696Thrfs frameshift NM_001408428.1:c.2085delG NP_001395357.1:p.Asp696Thrfs frameshift NM_001408429.1:c.2085delG NP_001395358.1:p.Asp696Thrfs frameshift NM_001408430.1:c.2085delG NP_001395359.1:p.Asp696Thrfs frameshift NM_001408431.1:c.2085delG NP_001395360.1:p.Asp696Thrfs frameshift NM_001408432.1:c.2082delG NP_001395361.1:p.Asp695Thrfs frameshift NM_001408433.1:c.2082delG NP_001395362.1:p.Asp695Thrfs frameshift NM_001408434.1:c.2082delG NP_001395363.1:p.Asp695Thrfs frameshift NM_001408435.1:c.2082delG NP_001395364.1:p.Asp695Thrfs frameshift NM_001408436.1:c.2082delG NP_001395365.1:p.Asp695Thrfs frameshift NM_001408437.1:c.2082delG NP_001395366.1:p.Asp695Thrfs frameshift NM_001408438.1:c.2082delG NP_001395367.1:p.Asp695Thrfs frameshift NM_001408439.1:c.2082delG NP_001395368.1:p.Asp695Thrfs frameshift NM_001408440.1:c.2082delG NP_001395369.1:p.Asp695Thrfs frameshift NM_001408441.1:c.2082delG NP_001395370.1:p.Asp695Thrfs frameshift NM_001408442.1:c.2082delG NP_001395371.1:p.Asp695Thrfs frameshift NM_001408443.1:c.2082delG NP_001395372.1:p.Asp695Thrfs frameshift NM_001408444.1:c.2082delG NP_001395373.1:p.Asp695Thrfs frameshift NM_001408445.1:c.2079delG NP_001395374.1:p.Asp694Thrfs frameshift NM_001408446.1:c.2079delG NP_001395375.1:p.Asp694Thrfs frameshift NM_001408447.1:c.2079delG NP_001395376.1:p.Asp694Thrfs frameshift NM_001408448.1:c.2079delG NP_001395377.1:p.Asp694Thrfs frameshift NM_001408450.1:c.2079delG NP_001395379.1:p.Asp694Thrfs frameshift NM_001408451.1:c.2073delG NP_001395380.1:p.Asp692Thrfs frameshift NM_001408452.1:c.2067delG NP_001395381.1:p.Asp690Thrfs frameshift NM_001408453.1:c.2067delG NP_001395382.1:p.Asp690Thrfs frameshift NM_001408454.1:c.2067delG NP_001395383.1:p.Asp690Thrfs frameshift NM_001408455.1:c.2067delG NP_001395384.1:p.Asp690Thrfs frameshift NM_001408456.1:c.2067delG NP_001395385.1:p.Asp690Thrfs frameshift NM_001408457.1:c.2067delG NP_001395386.1:p.Asp690Thrfs frameshift NM_001408458.1:c.2064delG NP_001395387.1:p.Asp689Thrfs frameshift NM_001408459.1:c.2064delG NP_001395388.1:p.Asp689Thrfs frameshift NM_001408460.1:c.2064delG NP_001395389.1:p.Asp689Thrfs frameshift NM_001408461.1:c.2064delG NP_001395390.1:p.Asp689Thrfs frameshift NM_001408462.1:c.2064delG NP_001395391.1:p.Asp689Thrfs frameshift NM_001408463.1:c.2064delG NP_001395392.1:p.Asp689Thrfs frameshift NM_001408464.1:c.2064delG NP_001395393.1:p.Asp689Thrfs frameshift NM_001408465.1:c.2064delG NP_001395394.1:p.Asp689Thrfs frameshift NM_001408466.1:c.2064delG NP_001395395.1:p.Asp689Thrfs frameshift NM_001408467.1:c.2064delG NP_001395396.1:p.Asp689Thrfs frameshift NM_001408468.1:c.2061delG NP_001395397.1:p.Asp688Thrfs frameshift NM_001408469.1:c.2061delG NP_001395398.1:p.Asp688Thrfs frameshift NM_001408470.1:c.2061delG NP_001395399.1:p.Asp688Thrfs frameshift NM_001408472.1:c.*31delG NM_001408473.1:c.*31delG NM_001408474.1:c.2007delG NP_001395403.1:p.Asp670Thrfs frameshift NM_001408475.1:c.2004delG NP_001395404.1:p.Asp669Thrfs frameshift NM_001408476.1:c.2004delG NP_001395405.1:p.Asp669Thrfs frameshift NM_001408478.1:c.1998delG NP_001395407.1:p.Asp667Thrfs frameshift NM_001408479.1:c.1998delG NP_001395408.1:p.Asp667Thrfs frameshift NM_001408480.1:c.1998delG NP_001395409.1:p.Asp667Thrfs frameshift NM_001408481.1:c.1995delG NP_001395410.1:p.Asp666Thrfs frameshift NM_001408482.1:c.1995delG NP_001395411.1:p.Asp666Thrfs frameshift NM_001408483.1:c.1995delG NP_001395412.1:p.Asp666Thrfs frameshift NM_001408484.1:c.1995delG NP_001395413.1:p.Asp666Thrfs frameshift NM_001408485.1:c.1995delG NP_001395414.1:p.Asp666Thrfs frameshift NM_001408489.1:c.1995delG NP_001395418.1:p.Asp666Thrfs frameshift NM_001408490.1:c.1995delG NP_001395419.1:p.Asp666Thrfs frameshift NM_001408491.1:c.1995delG NP_001395420.1:p.Asp666Thrfs frameshift NM_001408492.1:c.1992delG NP_001395421.1:p.Asp665Thrfs frameshift NM_001408493.1:c.1992delG NP_001395422.1:p.Asp665Thrfs frameshift NM_001408494.1:c.1968delG NP_001395423.1:p.Asp657Thrfs frameshift NM_001408495.1:c.1962delG NP_001395424.1:p.Asp655Thrfs frameshift NM_001408496.1:c.1944delG NP_001395425.1:p.Asp649Thrfs frameshift NM_001408497.1:c.1944delG NP_001395426.1:p.Asp649Thrfs frameshift NM_001408498.1:c.1944delG NP_001395427.1:p.Asp649Thrfs frameshift NM_001408499.1:c.1944delG NP_001395428.1:p.Asp649Thrfs frameshift NM_001408500.1:c.1944delG NP_001395429.1:p.Asp649Thrfs frameshift NM_001408501.1:c.1944delG NP_001395430.1:p.Asp649Thrfs frameshift NM_001408502.1:c.1941delG NP_001395431.1:p.Asp648Thrfs frameshift NM_001408503.1:c.1941delG NP_001395432.1:p.Asp648Thrfs frameshift NM_001408504.1:c.1941delG NP_001395433.1:p.Asp648Thrfs frameshift NM_001408505.1:c.1938delG NP_001395434.1:p.Asp647Thrfs frameshift NM_001408506.1:c.1881delG NP_001395435.1:p.Asp628Thrfs frameshift NM_001408507.1:c.1878delG NP_001395436.1:p.Asp627Thrfs frameshift NM_001408508.1:c.1869delG NP_001395437.1:p.Asp624Thrfs frameshift NM_001408509.1:c.1866delG NP_001395438.1:p.Asp623Thrfs frameshift NM_001408510.1:c.1827delG NP_001395439.1:p.Asp610Thrfs frameshift NM_001408511.1:c.1824delG NP_001395440.1:p.Asp609Thrfs frameshift NM_001408512.1:c.1704delG NP_001395441.1:p.Asp569Thrfs frameshift NM_001408513.1:c.1677delG NP_001395442.1:p.Asp560Thrfs frameshift NM_001408514.1:c.1281delG NP_001395443.1:p.Asp428Thrfs frameshift NM_007294.3:c.5517delG NP_009225.1:p.Asp1840Thrfs frameshift NM_007294.3:c.5518delG frameshift NM_007297.4:c.5377del NP_009228.2:p.Asp1793fs frameshift NM_007298.4:c.2205delG NP_009229.2:p.Asp736Thrfs frameshift NM_007299.4:c.*32del 3 prime UTR NM_007300.4:c.5581del NP_009231.2:p.Asp1861fs frameshift NM_007304.2:c.2205delG NP_009235.2:p.Asp736Thrfs frameshift NR_027676.2:n.5695del non-coding transcript variant NC_000017.11:g.43045753del NC_000017.10:g.41197770del NG_005905.2:g.172232del LRG_292:g.172232del LRG_292t1:c.5518del - Protein change
- D1840fs, D1793fs, D1861fs, D736fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045751:CC:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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. |
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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. |
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Pathogenic (1) |
reviewed by expert panel
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Dec 15, 2017 | RCV000661027.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 6, 2023 | RCV001179869.6 |
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. |
|
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Pathogenic
(Dec 15, 2017)
|
reviewed by expert panel
Method: curation
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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: SCV000783271.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Mar 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001344666.4
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 23 of the BRCA1 gene, creating a premature translation stop signal in the last coding exon. While this … (more)
This variant deletes 1 nucleotide in exon 23 of the BRCA1 gene, creating a premature translation stop signal in the last coding exon. While this variant is not expected to trigger nonsense-mediated decay, the truncation is predicted to delete the C-terminus of the BRCT domain that is important for phosphopeptide binding and DNA damage response (PMID: 25701377). To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. However, two variants resulting in the nonsense mutation, p.Tyr1853*, that is C-terminal to codon 1840, have been detected in individuals affected with breast and ovarian cancer (PMID: 7894493, 20104584, 24504028, 24728189). The deleted C-terminus includes codons 1841, 1843 and 1853, where missense variants have been reported as disease-causing in ClinVar (variation ID: 37681, 55614, 55627), suggesting that the deleted region is functionally important. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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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
HelpTitle | Author | Journal | Year | Link |
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Phosphopeptide interactions with BRCA1 BRCT domains: More than just a motif. | Wu Q | Progress in biophysics and molecular biology | 2015 | PMID: 25701377 |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
Text-mined citations for rs1555574414 ...
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.