ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer)
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.5497del (p.Val1832_Val1833insTer)
Variation ID: 1453808 Accession: VCV001453808.7
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045773 (GRCh38) [ NCBI UCSC ] 17: 41197790 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Mar 28, 2022 Feb 28, 2024 Nov 27, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5497del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1832_Val1833insTer nonsense NM_001407571.1:c.5283delG NP_001394500.1:p.Val1762Terfs frameshift nonsense NM_001407581.1:c.5562delG NP_001394510.1:p.Val1855Terfs frameshift nonsense NM_001407582.1:c.5562delG NP_001394511.1:p.Val1855Terfs frameshift nonsense NM_001407583.1:c.5559delG NP_001394512.1:p.Val1854Terfs frameshift nonsense NM_001407585.1:c.5559delG NP_001394514.1:p.Val1854Terfs frameshift nonsense NM_001407587.1:c.5559delG NP_001394516.1:p.Val1854Terfs frameshift nonsense NM_001407590.1:c.5556delG NP_001394519.1:p.Val1853Terfs frameshift nonsense NM_001407591.1:c.5556delG NP_001394520.1:p.Val1853Terfs frameshift nonsense NM_001407593.1:c.5496delG NP_001394522.1:p.Val1833Terfs frameshift nonsense NM_001407594.1:c.5496delG NP_001394523.1:p.Val1833Terfs frameshift nonsense NM_001407596.1:c.5496delG NP_001394525.1:p.Val1833Terfs frameshift nonsense NM_001407597.1:c.5496delG NP_001394526.1:p.Val1833Terfs frameshift nonsense NM_001407598.1:c.5496delG NP_001394527.1:p.Val1833Terfs frameshift nonsense NM_001407602.1:c.5496delG NP_001394531.1:p.Val1833Terfs frameshift nonsense NM_001407603.1:c.5496delG NP_001394532.1:p.Val1833Terfs frameshift nonsense NM_001407605.1:c.5496delG NP_001394534.1:p.Val1833Terfs frameshift nonsense NM_001407610.1:c.5493delG NP_001394539.1:p.Val1832Terfs frameshift nonsense NM_001407611.1:c.5493delG NP_001394540.1:p.Val1832Terfs frameshift nonsense NM_001407612.1:c.5493delG NP_001394541.1:p.Val1832Terfs frameshift nonsense NM_001407613.1:c.5493delG NP_001394542.1:p.Val1832Terfs frameshift nonsense NM_001407614.1:c.5493delG NP_001394543.1:p.Val1832Terfs frameshift nonsense NM_001407615.1:c.5493delG NP_001394544.1:p.Val1832Terfs frameshift nonsense NM_001407616.1:c.5493delG NP_001394545.1:p.Val1832Terfs frameshift nonsense NM_001407617.1:c.5493delG NP_001394546.1:p.Val1832Terfs frameshift nonsense NM_001407618.1:c.5493delG NP_001394547.1:p.Val1832Terfs frameshift nonsense NM_001407619.1:c.5493delG NP_001394548.1:p.Val1832Terfs frameshift nonsense NM_001407620.1:c.5493delG NP_001394549.1:p.Val1832Terfs frameshift nonsense NM_001407621.1:c.5493delG NP_001394550.1:p.Val1832Terfs frameshift nonsense NM_001407622.1:c.5493delG NP_001394551.1:p.Val1832Terfs frameshift nonsense NM_001407623.1:c.5493delG NP_001394552.1:p.Val1832Terfs frameshift nonsense NM_001407624.1:c.5493delG NP_001394553.1:p.Val1832Terfs frameshift nonsense NM_001407625.1:c.5493delG NP_001394554.1:p.Val1832Terfs frameshift nonsense NM_001407626.1:c.5493delG NP_001394555.1:p.Val1832Terfs frameshift nonsense NM_001407627.1:c.5490delG NP_001394556.1:p.Val1831Terfs frameshift nonsense NM_001407628.1:c.5490delG NP_001394557.1:p.Val1831Terfs frameshift nonsense NM_001407629.1:c.5490delG NP_001394558.1:p.Val1831Terfs frameshift nonsense NM_001407630.1:c.5490delG NP_001394559.1:p.Val1831Terfs frameshift nonsense NM_001407631.1:c.5490delG NP_001394560.1:p.Val1831Terfs frameshift nonsense NM_001407632.1:c.5490delG NP_001394561.1:p.Val1831Terfs frameshift nonsense NM_001407633.1:c.5490delG NP_001394562.1:p.Val1831Terfs frameshift nonsense NM_001407634.1:c.5490delG NP_001394563.1:p.Val1831Terfs frameshift nonsense NM_001407635.1:c.5490delG NP_001394564.1:p.Val1831Terfs frameshift nonsense NM_001407636.1:c.5490delG NP_001394565.1:p.Val1831Terfs frameshift nonsense NM_001407637.1:c.5490delG NP_001394566.1:p.Val1831Terfs frameshift nonsense NM_001407638.1:c.5490delG NP_001394567.1:p.Val1831Terfs frameshift nonsense NM_001407639.1:c.5490delG NP_001394568.1:p.Val1831Terfs frameshift nonsense NM_001407640.1:c.5490delG NP_001394569.1:p.Val1831Terfs frameshift nonsense NM_001407641.1:c.5490delG NP_001394570.1:p.Val1831Terfs frameshift nonsense NM_001407642.1:c.5490delG NP_001394571.1:p.Val1831Terfs frameshift nonsense NM_001407644.1:c.5487delG NP_001394573.1:p.Val1830Terfs frameshift nonsense NM_001407645.1:c.5487delG NP_001394574.1:p.Val1830Terfs frameshift nonsense NM_001407646.1:c.5484delG NP_001394575.1:p.Val1829Terfs frameshift nonsense NM_001407647.1:c.5481delG NP_001394576.1:p.Val1828Terfs frameshift nonsense NM_001407648.1:c.5439delG NP_001394577.1:p.Val1814Terfs frameshift nonsense NM_001407649.1:c.5436delG NP_001394578.1:p.Val1813Terfs frameshift nonsense NM_001407652.1:c.5418delG NP_001394581.1:p.Val1807Terfs frameshift nonsense NM_001407653.1:c.5418delG NP_001394582.1:p.Val1807Terfs frameshift nonsense NM_001407654.1:c.5418delG NP_001394583.1:p.Val1807Terfs frameshift nonsense NM_001407655.1:c.5418delG NP_001394584.1:p.Val1807Terfs frameshift nonsense NM_001407656.1:c.5415delG NP_001394585.1:p.Val1806Terfs frameshift nonsense NM_001407657.1:c.5415delG NP_001394586.1:p.Val1806Terfs frameshift nonsense NM_001407658.1:c.5415delG NP_001394587.1:p.Val1806Terfs frameshift nonsense NM_001407659.1:c.5412delG NP_001394588.1:p.Val1805Terfs frameshift nonsense NM_001407660.1:c.5412delG NP_001394589.1:p.Val1805Terfs frameshift nonsense NM_001407661.1:c.5412delG NP_001394590.1:p.Val1805Terfs frameshift nonsense NM_001407662.1:c.5412delG NP_001394591.1:p.Val1805Terfs frameshift nonsense NM_001407663.1:c.5412delG NP_001394592.1:p.Val1805Terfs frameshift nonsense NM_001407664.1:c.5373delG NP_001394593.1:p.Val1792Terfs frameshift nonsense NM_001407665.1:c.5373delG NP_001394594.1:p.Val1792Terfs frameshift nonsense NM_001407666.1:c.5373delG NP_001394595.1:p.Val1792Terfs frameshift nonsense NM_001407667.1:c.5373delG NP_001394596.1:p.Val1792Terfs frameshift nonsense NM_001407668.1:c.5373delG NP_001394597.1:p.Val1792Terfs frameshift nonsense NM_001407669.1:c.5373delG NP_001394598.1:p.Val1792Terfs frameshift nonsense NM_001407670.1:c.5370delG NP_001394599.1:p.Val1791Terfs frameshift nonsense NM_001407671.1:c.5370delG NP_001394600.1:p.Val1791Terfs frameshift nonsense NM_001407672.1:c.5370delG NP_001394601.1:p.Val1791Terfs frameshift nonsense NM_001407673.1:c.5370delG NP_001394602.1:p.Val1791Terfs frameshift nonsense NM_001407674.1:c.5370delG NP_001394603.1:p.Val1791Terfs frameshift nonsense NM_001407675.1:c.5370delG NP_001394604.1:p.Val1791Terfs frameshift nonsense NM_001407676.1:c.5370delG NP_001394605.1:p.Val1791Terfs frameshift nonsense NM_001407677.1:c.5370delG NP_001394606.1:p.Val1791Terfs frameshift nonsense NM_001407678.1:c.5370delG NP_001394607.1:p.Val1791Terfs frameshift nonsense NM_001407679.1:c.5370delG NP_001394608.1:p.Val1791Terfs frameshift nonsense NM_001407680.1:c.5370delG NP_001394609.1:p.Val1791Terfs frameshift nonsense NM_001407681.1:c.5367delG NP_001394610.1:p.Val1790Terfs frameshift nonsense NM_001407682.1:c.5367delG NP_001394611.1:p.Val1790Terfs frameshift nonsense NM_001407683.1:c.5367delG NP_001394612.1:p.Val1790Terfs frameshift nonsense NM_001407684.1:c.5367delG NP_001394613.1:p.Val1790Terfs frameshift nonsense NM_001407685.1:c.5367delG NP_001394614.1:p.Val1790Terfs frameshift nonsense NM_001407686.1:c.5367delG NP_001394615.1:p.Val1790Terfs frameshift nonsense NM_001407687.1:c.5367delG NP_001394616.1:p.Val1790Terfs frameshift nonsense NM_001407688.1:c.5367delG NP_001394617.1:p.Val1790Terfs frameshift nonsense NM_001407689.1:c.5367delG NP_001394618.1:p.Val1790Terfs frameshift nonsense NM_001407690.1:c.5364delG NP_001394619.1:p.Val1789Terfs frameshift nonsense NM_001407691.1:c.5364delG NP_001394620.1:p.Val1789Terfs frameshift nonsense NM_001407692.1:c.5355delG NP_001394621.1:p.Val1786Terfs frameshift nonsense NM_001407694.1:c.5355delG NP_001394623.1:p.Val1786Terfs frameshift nonsense NM_001407695.1:c.5355delG NP_001394624.1:p.Val1786Terfs frameshift nonsense NM_001407696.1:c.5355delG NP_001394625.1:p.Val1786Terfs frameshift nonsense NM_001407697.1:c.5355delG NP_001394626.1:p.Val1786Terfs frameshift nonsense NM_001407698.1:c.5355delG NP_001394627.1:p.Val1786Terfs frameshift nonsense NM_001407724.1:c.5355delG NP_001394653.1:p.Val1786Terfs frameshift nonsense NM_001407725.1:c.5355delG NP_001394654.1:p.Val1786Terfs frameshift nonsense NM_001407726.1:c.5355delG NP_001394655.1:p.Val1786Terfs frameshift nonsense NM_001407727.1:c.5355delG NP_001394656.1:p.Val1786Terfs frameshift nonsense NM_001407728.1:c.5355delG NP_001394657.1:p.Val1786Terfs frameshift nonsense NM_001407729.1:c.5355delG NP_001394658.1:p.Val1786Terfs frameshift nonsense NM_001407730.1:c.5355delG NP_001394659.1:p.Val1786Terfs frameshift nonsense NM_001407731.1:c.5355delG NP_001394660.1:p.Val1786Terfs frameshift nonsense NM_001407732.1:c.5352delG NP_001394661.1:p.Val1785Terfs frameshift nonsense NM_001407733.1:c.5352delG NP_001394662.1:p.Val1785Terfs frameshift nonsense NM_001407734.1:c.5352delG NP_001394663.1:p.Val1785Terfs frameshift nonsense NM_001407735.1:c.5352delG NP_001394664.1:p.Val1785Terfs frameshift nonsense NM_001407736.1:c.5352delG NP_001394665.1:p.Val1785Terfs frameshift nonsense NM_001407737.1:c.5352delG NP_001394666.1:p.Val1785Terfs frameshift nonsense NM_001407738.1:c.5352delG NP_001394667.1:p.Val1785Terfs frameshift nonsense NM_001407739.1:c.5352delG NP_001394668.1:p.Val1785Terfs frameshift nonsense NM_001407740.1:c.5352delG NP_001394669.1:p.Val1785Terfs frameshift nonsense NM_001407741.1:c.5352delG NP_001394670.1:p.Val1785Terfs frameshift nonsense NM_001407742.1:c.5352delG NP_001394671.1:p.Val1785Terfs frameshift nonsense NM_001407743.1:c.5352delG NP_001394672.1:p.Val1785Terfs frameshift nonsense NM_001407744.1:c.5352delG NP_001394673.1:p.Val1785Terfs frameshift nonsense NM_001407745.1:c.5352delG NP_001394674.1:p.Val1785Terfs frameshift nonsense NM_001407746.1:c.5352delG NP_001394675.1:p.Val1785Terfs frameshift nonsense NM_001407747.1:c.5352delG NP_001394676.1:p.Val1785Terfs frameshift nonsense NM_001407748.1:c.5352delG NP_001394677.1:p.Val1785Terfs frameshift nonsense NM_001407749.1:c.5352delG NP_001394678.1:p.Val1785Terfs frameshift nonsense NM_001407750.1:c.5352delG NP_001394679.1:p.Val1785Terfs frameshift nonsense NM_001407751.1:c.5352delG NP_001394680.1:p.Val1785Terfs frameshift nonsense NM_001407752.1:c.5352delG NP_001394681.1:p.Val1785Terfs frameshift nonsense NM_001407838.1:c.5349delG NP_001394767.1:p.Val1784Terfs frameshift nonsense NM_001407839.1:c.5349delG NP_001394768.1:p.Val1784Terfs frameshift nonsense NM_001407841.1:c.5349delG NP_001394770.1:p.Val1784Terfs frameshift nonsense NM_001407842.1:c.5349delG NP_001394771.1:p.Val1784Terfs frameshift nonsense NM_001407843.1:c.5349delG NP_001394772.1:p.Val1784Terfs frameshift nonsense NM_001407844.1:c.5349delG NP_001394773.1:p.Val1784Terfs frameshift nonsense NM_001407845.1:c.5349delG NP_001394774.1:p.Val1784Terfs frameshift nonsense NM_001407846.1:c.5349delG NP_001394775.1:p.Val1784Terfs frameshift nonsense NM_001407847.1:c.5349delG NP_001394776.1:p.Val1784Terfs frameshift nonsense NM_001407848.1:c.5349delG NP_001394777.1:p.Val1784Terfs frameshift nonsense NM_001407849.1:c.5349delG NP_001394778.1:p.Val1784Terfs frameshift nonsense NM_001407850.1:c.5349delG NP_001394779.1:p.Val1784Terfs frameshift nonsense NM_001407851.1:c.5349delG NP_001394780.1:p.Val1784Terfs frameshift nonsense NM_001407852.1:c.5349delG NP_001394781.1:p.Val1784Terfs frameshift nonsense NM_001407853.1:c.5349delG NP_001394782.1:p.Val1784Terfs frameshift nonsense NM_001407854.1:c.*10delG NM_001407858.1:c.*10delG NM_001407859.1:c.*10delG NM_001407860.1:c.*10delG NM_001407861.1:c.*10delG NM_001407862.1:c.5295delG NP_001394791.1:p.Val1766Terfs frameshift nonsense NM_001407863.1:c.5292delG NP_001394792.1:p.Val1765Terfs frameshift nonsense NM_001407874.1:c.5289delG NP_001394803.1:p.Val1764Terfs frameshift nonsense NM_001407875.1:c.5289delG NP_001394804.1:p.Val1764Terfs frameshift nonsense NM_001407879.1:c.5286delG NP_001394808.1:p.Val1763Terfs frameshift nonsense NM_001407881.1:c.5286delG NP_001394810.1:p.Val1763Terfs frameshift nonsense NM_001407882.1:c.5286delG NP_001394811.1:p.Val1763Terfs frameshift nonsense NM_001407884.1:c.5286delG NP_001394813.1:p.Val1763Terfs frameshift nonsense NM_001407885.1:c.5286delG NP_001394814.1:p.Val1763Terfs frameshift nonsense NM_001407886.1:c.5286delG NP_001394815.1:p.Val1763Terfs frameshift nonsense NM_001407887.1:c.5286delG NP_001394816.1:p.Val1763Terfs frameshift nonsense NM_001407889.1:c.5286delG NP_001394818.1:p.Val1763Terfs frameshift nonsense NM_001407894.1:c.5283delG NP_001394823.1:p.Val1762Terfs frameshift nonsense NM_001407895.1:c.5283delG NP_001394824.1:p.Val1762Terfs frameshift nonsense NM_001407896.1:c.5283delG NP_001394825.1:p.Val1762Terfs frameshift nonsense NM_001407897.1:c.5283delG NP_001394826.1:p.Val1762Terfs frameshift nonsense NM_001407898.1:c.5283delG NP_001394827.1:p.Val1762Terfs frameshift nonsense NM_001407899.1:c.5283delG NP_001394828.1:p.Val1762Terfs frameshift nonsense NM_001407900.1:c.5283delG NP_001394829.1:p.Val1762Terfs frameshift nonsense NM_001407902.1:c.5283delG NP_001394831.1:p.Val1762Terfs frameshift nonsense NM_001407904.1:c.5283delG NP_001394833.1:p.Val1762Terfs frameshift nonsense NM_001407906.1:c.5283delG NP_001394835.1:p.Val1762Terfs frameshift nonsense NM_001407907.1:c.5283delG NP_001394836.1:p.Val1762Terfs frameshift nonsense NM_001407908.1:c.5283delG NP_001394837.1:p.Val1762Terfs frameshift nonsense NM_001407909.1:c.5283delG NP_001394838.1:p.Val1762Terfs frameshift nonsense NM_001407910.1:c.5283delG NP_001394839.1:p.Val1762Terfs frameshift nonsense NM_001407915.1:c.5280delG NP_001394844.1:p.Val1761Terfs frameshift nonsense NM_001407916.1:c.5280delG NP_001394845.1:p.Val1761Terfs frameshift nonsense NM_001407917.1:c.5280delG NP_001394846.1:p.Val1761Terfs frameshift nonsense NM_001407918.1:c.5280delG NP_001394847.1:p.Val1761Terfs frameshift nonsense NM_001407919.1:c.5244delG NP_001394848.1:p.Val1749Terfs frameshift nonsense NM_001407920.1:c.5232delG NP_001394849.1:p.Val1745Terfs frameshift nonsense NM_001407921.1:c.5232delG NP_001394850.1:p.Val1745Terfs frameshift nonsense NM_001407922.1:c.5232delG NP_001394851.1:p.Val1745Terfs frameshift nonsense NM_001407923.1:c.5232delG NP_001394852.1:p.Val1745Terfs frameshift nonsense NM_001407924.1:c.5232delG NP_001394853.1:p.Val1745Terfs frameshift nonsense NM_001407925.1:c.5232delG NP_001394854.1:p.Val1745Terfs frameshift nonsense NM_001407926.1:c.5232delG NP_001394855.1:p.Val1745Terfs frameshift nonsense NM_001407927.1:c.5229delG NP_001394856.1:p.Val1744Terfs frameshift nonsense NM_001407928.1:c.5229delG NP_001394857.1:p.Val1744Terfs frameshift nonsense NM_001407929.1:c.5229delG NP_001394858.1:p.Val1744Terfs frameshift nonsense NM_001407930.1:c.5229delG NP_001394859.1:p.Val1744Terfs frameshift nonsense NM_001407931.1:c.5229delG NP_001394860.1:p.Val1744Terfs frameshift nonsense NM_001407932.1:c.5229delG NP_001394861.1:p.Val1744Terfs frameshift nonsense NM_001407933.1:c.5229delG NP_001394862.1:p.Val1744Terfs frameshift nonsense NM_001407934.1:c.5226delG NP_001394863.1:p.Val1743Terfs frameshift nonsense NM_001407935.1:c.5226delG NP_001394864.1:p.Val1743Terfs frameshift nonsense NM_001407936.1:c.5226delG NP_001394865.1:p.Val1743Terfs frameshift nonsense NM_001407937.1:c.*10delG NM_001407938.1:c.*10delG NM_001407939.1:c.*10delG NM_001407940.1:c.*10delG NM_001407941.1:c.*10delG NM_001407942.1:c.*10delG NM_001407943.1:c.*10delG NM_001407944.1:c.*10delG NM_001407945.1:c.*10delG NM_001407946.1:c.5163delG NP_001394875.1:p.Val1722Terfs frameshift nonsense NM_001407947.1:c.5163delG NP_001394876.1:p.Val1722Terfs frameshift nonsense NM_001407948.1:c.5163delG NP_001394877.1:p.Val1722Terfs frameshift nonsense NM_001407949.1:c.5163delG NP_001394878.1:p.Val1722Terfs frameshift nonsense NM_001407950.1:c.5160delG NP_001394879.1:p.Val1721Terfs frameshift nonsense NM_001407951.1:c.5160delG NP_001394880.1:p.Val1721Terfs frameshift nonsense NM_001407952.1:c.5160delG NP_001394881.1:p.Val1721Terfs frameshift nonsense NM_001407953.1:c.5160delG NP_001394882.1:p.Val1721Terfs frameshift nonsense NM_001407954.1:c.5160delG NP_001394883.1:p.Val1721Terfs frameshift nonsense NM_001407955.1:c.5160delG NP_001394884.1:p.Val1721Terfs frameshift nonsense NM_001407956.1:c.5157delG NP_001394885.1:p.Val1720Terfs frameshift nonsense NM_001407957.1:c.5157delG NP_001394886.1:p.Val1720Terfs frameshift nonsense NM_001407958.1:c.5157delG NP_001394887.1:p.Val1720Terfs frameshift nonsense NM_001407959.1:c.5115delG NP_001394888.1:p.Val1706Terfs frameshift nonsense NM_001407960.1:c.5112delG NP_001394889.1:p.Val1705Terfs frameshift nonsense NM_001407962.1:c.5112delG NP_001394891.1:p.Val1705Terfs frameshift nonsense NM_001407963.1:c.5109delG NP_001394892.1:p.Val1704Terfs frameshift nonsense NM_001407964.1:c.5034delG NP_001394893.1:p.Val1679Terfs frameshift nonsense NM_001407965.1:c.4989delG NP_001394894.1:p.Val1664Terfs frameshift nonsense NM_001407966.1:c.4608delG NP_001394895.1:p.Val1537Terfs frameshift nonsense NM_001407967.1:c.4605delG NP_001394896.1:p.Val1536Terfs frameshift nonsense NM_001407968.1:c.2892delG NP_001394897.1:p.Val965Terfs frameshift nonsense NM_001407969.1:c.2889delG NP_001394898.1:p.Val964Terfs frameshift nonsense NM_001407970.1:c.2253delG NP_001394899.1:p.Val752Terfs frameshift nonsense NM_001407971.1:c.2253delG NP_001394900.1:p.Val752Terfs frameshift nonsense NM_001407972.1:c.2250delG NP_001394901.1:p.Val751Terfs frameshift nonsense NM_001407973.1:c.2187delG NP_001394902.1:p.Val730Terfs frameshift nonsense NM_001407974.1:c.2187delG NP_001394903.1:p.Val730Terfs frameshift nonsense NM_001407975.1:c.2187delG NP_001394904.1:p.Val730Terfs frameshift nonsense NM_001407976.1:c.2187delG NP_001394905.1:p.Val730Terfs frameshift nonsense NM_001407977.1:c.2187delG NP_001394906.1:p.Val730Terfs frameshift nonsense NM_001407978.1:c.2187delG NP_001394907.1:p.Val730Terfs frameshift nonsense NM_001407979.1:c.2184delG NP_001394908.1:p.Val729Terfs frameshift nonsense NM_001407980.1:c.2184delG NP_001394909.1:p.Val729Terfs frameshift nonsense NM_001407981.1:c.2184delG NP_001394910.1:p.Val729Terfs frameshift nonsense NM_001407982.1:c.2184delG NP_001394911.1:p.Val729Terfs frameshift nonsense NM_001407983.1:c.2184delG NP_001394912.1:p.Val729Terfs frameshift nonsense NM_001407984.1:c.2184delG NP_001394913.1:p.Val729Terfs frameshift nonsense NM_001407985.1:c.2184delG NP_001394914.1:p.Val729Terfs frameshift nonsense NM_001407986.1:c.2184delG NP_001394915.1:p.Val729Terfs frameshift nonsense NM_001407990.1:c.2184delG NP_001394919.1:p.Val729Terfs frameshift nonsense NM_001407991.1:c.2184delG NP_001394920.1:p.Val729Terfs frameshift nonsense NM_001407992.1:c.2184delG NP_001394921.1:p.Val729Terfs frameshift nonsense NM_001407993.1:c.2184delG NP_001394922.1:p.Val729Terfs frameshift nonsense NM_001408392.1:c.2181delG NP_001395321.1:p.Val728Terfs frameshift nonsense NM_001408396.1:c.2181delG NP_001395325.1:p.Val728Terfs frameshift nonsense NM_001408397.1:c.2181delG NP_001395326.1:p.Val728Terfs frameshift nonsense NM_001408398.1:c.2181delG NP_001395327.1:p.Val728Terfs frameshift nonsense NM_001408399.1:c.2181delG NP_001395328.1:p.Val728Terfs frameshift nonsense NM_001408400.1:c.2181delG NP_001395329.1:p.Val728Terfs frameshift nonsense NM_001408401.1:c.2181delG NP_001395330.1:p.Val728Terfs frameshift nonsense NM_001408402.1:c.2181delG NP_001395331.1:p.Val728Terfs frameshift nonsense NM_001408403.1:c.2181delG NP_001395332.1:p.Val728Terfs frameshift nonsense NM_001408404.1:c.2181delG NP_001395333.1:p.Val728Terfs frameshift nonsense NM_001408406.1:c.2178delG NP_001395335.1:p.Val727Terfs frameshift nonsense NM_001408407.1:c.2178delG NP_001395336.1:p.Val727Terfs frameshift nonsense NM_001408408.1:c.2178delG NP_001395337.1:p.Val727Terfs frameshift nonsense NM_001408409.1:c.2175delG NP_001395338.1:p.Val726Terfs frameshift nonsense NM_001408410.1:c.2112delG NP_001395339.1:p.Val705Terfs frameshift nonsense NM_001408411.1:c.2109delG NP_001395340.1:p.Val704Terfs frameshift nonsense NM_001408412.1:c.2106delG NP_001395341.1:p.Val703Terfs frameshift nonsense NM_001408413.1:c.2106delG NP_001395342.1:p.Val703Terfs frameshift nonsense NM_001408414.1:c.2106delG NP_001395343.1:p.Val703Terfs frameshift nonsense NM_001408415.1:c.2106delG NP_001395344.1:p.Val703Terfs frameshift nonsense NM_001408416.1:c.2106delG NP_001395345.1:p.Val703Terfs frameshift nonsense NM_001408418.1:c.2070delG NP_001395347.1:p.Val691Terfs frameshift nonsense NM_001408419.1:c.2070delG NP_001395348.1:p.Val691Terfs frameshift nonsense NM_001408420.1:c.2070delG NP_001395349.1:p.Val691Terfs frameshift nonsense NM_001408421.1:c.2067delG NP_001395350.1:p.Val690Terfs frameshift nonsense NM_001408422.1:c.2067delG NP_001395351.1:p.Val690Terfs frameshift nonsense NM_001408423.1:c.2067delG NP_001395352.1:p.Val690Terfs frameshift nonsense NM_001408424.1:c.2067delG NP_001395353.1:p.Val690Terfs frameshift nonsense NM_001408425.1:c.2064delG NP_001395354.1:p.Val689Terfs frameshift nonsense NM_001408426.1:c.2064delG NP_001395355.1:p.Val689Terfs frameshift nonsense NM_001408427.1:c.2064delG NP_001395356.1:p.Val689Terfs frameshift nonsense NM_001408428.1:c.2064delG NP_001395357.1:p.Val689Terfs frameshift nonsense NM_001408429.1:c.2064delG NP_001395358.1:p.Val689Terfs frameshift nonsense NM_001408430.1:c.2064delG NP_001395359.1:p.Val689Terfs frameshift nonsense NM_001408431.1:c.2064delG NP_001395360.1:p.Val689Terfs frameshift nonsense NM_001408432.1:c.2061delG NP_001395361.1:p.Val688Terfs frameshift nonsense NM_001408433.1:c.2061delG NP_001395362.1:p.Val688Terfs frameshift nonsense NM_001408434.1:c.2061delG NP_001395363.1:p.Val688Terfs frameshift nonsense NM_001408435.1:c.2061delG NP_001395364.1:p.Val688Terfs frameshift nonsense NM_001408436.1:c.2061delG NP_001395365.1:p.Val688Terfs frameshift nonsense NM_001408437.1:c.2061delG NP_001395366.1:p.Val688Terfs frameshift nonsense NM_001408438.1:c.2061delG NP_001395367.1:p.Val688Terfs frameshift nonsense NM_001408439.1:c.2061delG NP_001395368.1:p.Val688Terfs frameshift nonsense NM_001408440.1:c.2061delG NP_001395369.1:p.Val688Terfs frameshift nonsense NM_001408441.1:c.2061delG NP_001395370.1:p.Val688Terfs frameshift nonsense NM_001408442.1:c.2061delG NP_001395371.1:p.Val688Terfs frameshift nonsense NM_001408443.1:c.2061delG NP_001395372.1:p.Val688Terfs frameshift nonsense NM_001408444.1:c.2061delG NP_001395373.1:p.Val688Terfs frameshift nonsense NM_001408445.1:c.2058delG NP_001395374.1:p.Val687Terfs frameshift nonsense NM_001408446.1:c.2058delG NP_001395375.1:p.Val687Terfs frameshift nonsense NM_001408447.1:c.2058delG NP_001395376.1:p.Val687Terfs frameshift nonsense NM_001408448.1:c.2058delG NP_001395377.1:p.Val687Terfs frameshift nonsense NM_001408450.1:c.2058delG NP_001395379.1:p.Val687Terfs frameshift nonsense NM_001408451.1:c.2052delG NP_001395380.1:p.Val685Terfs frameshift nonsense NM_001408452.1:c.2046delG NP_001395381.1:p.Val683Terfs frameshift nonsense NM_001408453.1:c.2046delG NP_001395382.1:p.Val683Terfs frameshift nonsense NM_001408454.1:c.2046delG NP_001395383.1:p.Val683Terfs frameshift nonsense NM_001408455.1:c.2046delG NP_001395384.1:p.Val683Terfs frameshift nonsense NM_001408456.1:c.2046delG NP_001395385.1:p.Val683Terfs frameshift nonsense NM_001408457.1:c.2046delG NP_001395386.1:p.Val683Terfs frameshift nonsense NM_001408458.1:c.2043delG NP_001395387.1:p.Val682Terfs frameshift nonsense NM_001408459.1:c.2043delG NP_001395388.1:p.Val682Terfs frameshift nonsense NM_001408460.1:c.2043delG NP_001395389.1:p.Val682Terfs frameshift nonsense NM_001408461.1:c.2043delG NP_001395390.1:p.Val682Terfs frameshift nonsense NM_001408462.1:c.2043delG NP_001395391.1:p.Val682Terfs frameshift nonsense NM_001408463.1:c.2043delG NP_001395392.1:p.Val682Terfs frameshift nonsense NM_001408464.1:c.2043delG NP_001395393.1:p.Val682Terfs frameshift nonsense NM_001408465.1:c.2043delG NP_001395394.1:p.Val682Terfs frameshift nonsense NM_001408466.1:c.2043delG NP_001395395.1:p.Val682Terfs frameshift nonsense NM_001408467.1:c.2043delG NP_001395396.1:p.Val682Terfs frameshift nonsense NM_001408468.1:c.2040delG NP_001395397.1:p.Val681Terfs frameshift nonsense NM_001408469.1:c.2040delG NP_001395398.1:p.Val681Terfs frameshift nonsense NM_001408470.1:c.2040delG NP_001395399.1:p.Val681Terfs frameshift nonsense NM_001408472.1:c.*10delG NM_001408473.1:c.*10delG NM_001408474.1:c.1986delG NP_001395403.1:p.Val663Terfs frameshift nonsense NM_001408475.1:c.1983delG NP_001395404.1:p.Val662Terfs frameshift nonsense NM_001408476.1:c.1983delG NP_001395405.1:p.Val662Terfs frameshift nonsense NM_001408478.1:c.1977delG NP_001395407.1:p.Val660Terfs frameshift nonsense NM_001408479.1:c.1977delG NP_001395408.1:p.Val660Terfs frameshift nonsense NM_001408480.1:c.1977delG NP_001395409.1:p.Val660Terfs frameshift nonsense NM_001408481.1:c.1974delG NP_001395410.1:p.Val659Terfs frameshift nonsense NM_001408482.1:c.1974delG NP_001395411.1:p.Val659Terfs frameshift nonsense NM_001408483.1:c.1974delG NP_001395412.1:p.Val659Terfs frameshift nonsense NM_001408484.1:c.1974delG NP_001395413.1:p.Val659Terfs frameshift nonsense NM_001408485.1:c.1974delG NP_001395414.1:p.Val659Terfs frameshift nonsense NM_001408489.1:c.1974delG NP_001395418.1:p.Val659Terfs frameshift nonsense NM_001408490.1:c.1974delG NP_001395419.1:p.Val659Terfs frameshift nonsense NM_001408491.1:c.1974delG NP_001395420.1:p.Val659Terfs frameshift nonsense NM_001408492.1:c.1971delG NP_001395421.1:p.Val658Terfs frameshift nonsense NM_001408493.1:c.1971delG NP_001395422.1:p.Val658Terfs frameshift nonsense NM_001408494.1:c.1947delG NP_001395423.1:p.Val650Terfs frameshift nonsense NM_001408495.1:c.1941delG NP_001395424.1:p.Val648Terfs frameshift nonsense NM_001408496.1:c.1923delG NP_001395425.1:p.Val642Terfs frameshift nonsense NM_001408497.1:c.1923delG NP_001395426.1:p.Val642Terfs frameshift nonsense NM_001408498.1:c.1923delG NP_001395427.1:p.Val642Terfs frameshift nonsense NM_001408499.1:c.1923delG NP_001395428.1:p.Val642Terfs frameshift nonsense NM_001408500.1:c.1923delG NP_001395429.1:p.Val642Terfs frameshift nonsense NM_001408501.1:c.1923delG NP_001395430.1:p.Val642Terfs frameshift nonsense NM_001408502.1:c.1920delG NP_001395431.1:p.Val641Terfs frameshift nonsense NM_001408503.1:c.1920delG NP_001395432.1:p.Val641Terfs frameshift nonsense NM_001408504.1:c.1920delG NP_001395433.1:p.Val641Terfs frameshift nonsense NM_001408505.1:c.1917delG NP_001395434.1:p.Val640Terfs frameshift nonsense NM_001408506.1:c.1860delG NP_001395435.1:p.Val621Terfs frameshift nonsense NM_001408507.1:c.1857delG NP_001395436.1:p.Val620Terfs frameshift nonsense NM_001408508.1:c.1848delG NP_001395437.1:p.Val617Terfs frameshift nonsense NM_001408509.1:c.1845delG NP_001395438.1:p.Val616Terfs frameshift nonsense NM_001408510.1:c.1806delG NP_001395439.1:p.Val603Terfs frameshift nonsense NM_001408511.1:c.1803delG NP_001395440.1:p.Val602Terfs frameshift nonsense NM_001408512.1:c.1683delG NP_001395441.1:p.Val562Terfs frameshift nonsense NM_001408513.1:c.1656delG NP_001395442.1:p.Val553Terfs frameshift nonsense NM_001408514.1:c.1260delG NP_001395443.1:p.Val421Terfs frameshift nonsense NM_007297.4:c.5356del NP_009228.2:p.Val1785_Val1786insTer nonsense NM_007298.4:c.2184delG NP_009229.2:p.Val729Terfs frameshift nonsense NM_007299.4:c.*11del 3 prime UTR NM_007300.4:c.5560del NP_009231.2:p.Val1853_Val1854insTer nonsense NM_007304.2:c.2184delG NP_009235.2:p.Val729Terfs frameshift nonsense NR_027676.2:n.5674del non-coding transcript variant NC_000017.11:g.43045774del NC_000017.10:g.41197791del NG_005905.2:g.172211del LRG_292:g.172211del LRG_292t1:c.5496del LRG_292p1:p.Val1833Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045772: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) |
criteria provided, single submitter
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Nov 27, 2023 | RCV001960501.6 |
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
(Nov 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV002236728.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Val1833*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Val1833*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453808). This variant disrupts the C-terminal end of the BRCA1 protein partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect on BRCA1 protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. A different truncation (p.Tyr1853*) that lies downstream of this variant has been determined to be pathogenic (PMID: 21922593, 10811118, 11739404, 12400015, 7894493, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been 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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Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
The BRCT domain is a phospho-protein binding domain. | Yu X | Science (New York, N.Y.) | 2003 | PMID: 14576433 |
Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. | Kawai H | Oncogene | 2002 | PMID: 12400015 |
BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | Ye Q | The Journal of cell biology | 2001 | PMID: 11739404 |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
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 rs2152561810 ...
HelpRecord last updated Mar 05, 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.