ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5516del (p.Leu1839fs)
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.5516del (p.Leu1839fs)
Variation ID: 1354632 Accession: VCV001354632.7
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045754 (GRCh38) [ NCBI UCSC ] 17: 41197771 (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 Mar 28, 2022 Feb 28, 2024 Mar 27, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5516del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1839fs frameshift NM_001407571.1:c.5302delT NP_001394500.1:p.Leu1768Trpfs frameshift NM_001407581.1:c.5581delT NP_001394510.1:p.Leu1861Trpfs frameshift NM_001407582.1:c.5581delT NP_001394511.1:p.Leu1861Trpfs frameshift NM_001407583.1:c.5578delT NP_001394512.1:p.Leu1860Trpfs frameshift NM_001407585.1:c.5578delT NP_001394514.1:p.Leu1860Trpfs frameshift NM_001407587.1:c.5578delT NP_001394516.1:p.Leu1860Trpfs frameshift NM_001407590.1:c.5575delT NP_001394519.1:p.Leu1859Trpfs frameshift NM_001407591.1:c.5575delT NP_001394520.1:p.Leu1859Trpfs frameshift NM_001407593.1:c.5515delT NP_001394522.1:p.Leu1839Trpfs frameshift NM_001407594.1:c.5515delT NP_001394523.1:p.Leu1839Trpfs frameshift NM_001407596.1:c.5515delT NP_001394525.1:p.Leu1839Trpfs frameshift NM_001407597.1:c.5515delT NP_001394526.1:p.Leu1839Trpfs frameshift NM_001407598.1:c.5515delT NP_001394527.1:p.Leu1839Trpfs frameshift NM_001407602.1:c.5515delT NP_001394531.1:p.Leu1839Trpfs frameshift NM_001407603.1:c.5515delT NP_001394532.1:p.Leu1839Trpfs frameshift NM_001407605.1:c.5515delT NP_001394534.1:p.Leu1839Trpfs frameshift NM_001407610.1:c.5512delT NP_001394539.1:p.Leu1838Trpfs frameshift NM_001407611.1:c.5512delT NP_001394540.1:p.Leu1838Trpfs frameshift NM_001407612.1:c.5512delT NP_001394541.1:p.Leu1838Trpfs frameshift NM_001407613.1:c.5512delT NP_001394542.1:p.Leu1838Trpfs frameshift NM_001407614.1:c.5512delT NP_001394543.1:p.Leu1838Trpfs frameshift NM_001407615.1:c.5512delT NP_001394544.1:p.Leu1838Trpfs frameshift NM_001407616.1:c.5512delT NP_001394545.1:p.Leu1838Trpfs frameshift NM_001407617.1:c.5512delT NP_001394546.1:p.Leu1838Trpfs frameshift NM_001407618.1:c.5512delT NP_001394547.1:p.Leu1838Trpfs frameshift NM_001407619.1:c.5512delT NP_001394548.1:p.Leu1838Trpfs frameshift NM_001407620.1:c.5512delT NP_001394549.1:p.Leu1838Trpfs frameshift NM_001407621.1:c.5512delT NP_001394550.1:p.Leu1838Trpfs frameshift NM_001407622.1:c.5512delT NP_001394551.1:p.Leu1838Trpfs frameshift NM_001407623.1:c.5512delT NP_001394552.1:p.Leu1838Trpfs frameshift NM_001407624.1:c.5512delT NP_001394553.1:p.Leu1838Trpfs frameshift NM_001407625.1:c.5512delT NP_001394554.1:p.Leu1838Trpfs frameshift NM_001407626.1:c.5512delT NP_001394555.1:p.Leu1838Trpfs frameshift NM_001407627.1:c.5509delT NP_001394556.1:p.Leu1837Trpfs frameshift NM_001407628.1:c.5509delT NP_001394557.1:p.Leu1837Trpfs frameshift NM_001407629.1:c.5509delT NP_001394558.1:p.Leu1837Trpfs frameshift NM_001407630.1:c.5509delT NP_001394559.1:p.Leu1837Trpfs frameshift NM_001407631.1:c.5509delT NP_001394560.1:p.Leu1837Trpfs frameshift NM_001407632.1:c.5509delT NP_001394561.1:p.Leu1837Trpfs frameshift NM_001407633.1:c.5509delT NP_001394562.1:p.Leu1837Trpfs frameshift NM_001407634.1:c.5509delT NP_001394563.1:p.Leu1837Trpfs frameshift NM_001407635.1:c.5509delT NP_001394564.1:p.Leu1837Trpfs frameshift NM_001407636.1:c.5509delT NP_001394565.1:p.Leu1837Trpfs frameshift NM_001407637.1:c.5509delT NP_001394566.1:p.Leu1837Trpfs frameshift NM_001407638.1:c.5509delT NP_001394567.1:p.Leu1837Trpfs frameshift NM_001407639.1:c.5509delT NP_001394568.1:p.Leu1837Trpfs frameshift NM_001407640.1:c.5509delT NP_001394569.1:p.Leu1837Trpfs frameshift NM_001407641.1:c.5509delT NP_001394570.1:p.Leu1837Trpfs frameshift NM_001407642.1:c.5509delT NP_001394571.1:p.Leu1837Trpfs frameshift NM_001407644.1:c.5506delT NP_001394573.1:p.Leu1836Trpfs frameshift NM_001407645.1:c.5506delT NP_001394574.1:p.Leu1836Trpfs frameshift NM_001407646.1:c.5503delT NP_001394575.1:p.Leu1835Trpfs frameshift NM_001407647.1:c.5500delT NP_001394576.1:p.Leu1834Trpfs frameshift NM_001407648.1:c.5458delT NP_001394577.1:p.Leu1820Trpfs frameshift NM_001407649.1:c.5455delT NP_001394578.1:p.Leu1819Trpfs frameshift NM_001407652.1:c.5437delT NP_001394581.1:p.Leu1813Trpfs frameshift NM_001407653.1:c.5437delT NP_001394582.1:p.Leu1813Trpfs frameshift NM_001407654.1:c.5437delT NP_001394583.1:p.Leu1813Trpfs frameshift NM_001407655.1:c.5437delT NP_001394584.1:p.Leu1813Trpfs frameshift NM_001407656.1:c.5434delT NP_001394585.1:p.Leu1812Trpfs frameshift NM_001407657.1:c.5434delT NP_001394586.1:p.Leu1812Trpfs frameshift NM_001407658.1:c.5434delT NP_001394587.1:p.Leu1812Trpfs frameshift NM_001407659.1:c.5431delT NP_001394588.1:p.Leu1811Trpfs frameshift NM_001407660.1:c.5431delT NP_001394589.1:p.Leu1811Trpfs frameshift NM_001407661.1:c.5431delT NP_001394590.1:p.Leu1811Trpfs frameshift NM_001407662.1:c.5431delT NP_001394591.1:p.Leu1811Trpfs frameshift NM_001407663.1:c.5431delT NP_001394592.1:p.Leu1811Trpfs frameshift NM_001407664.1:c.5392delT NP_001394593.1:p.Leu1798Trpfs frameshift NM_001407665.1:c.5392delT NP_001394594.1:p.Leu1798Trpfs frameshift NM_001407666.1:c.5392delT NP_001394595.1:p.Leu1798Trpfs frameshift NM_001407667.1:c.5392delT NP_001394596.1:p.Leu1798Trpfs frameshift NM_001407668.1:c.5392delT NP_001394597.1:p.Leu1798Trpfs frameshift NM_001407669.1:c.5392delT NP_001394598.1:p.Leu1798Trpfs frameshift NM_001407670.1:c.5389delT NP_001394599.1:p.Leu1797Trpfs frameshift NM_001407671.1:c.5389delT NP_001394600.1:p.Leu1797Trpfs frameshift NM_001407672.1:c.5389delT NP_001394601.1:p.Leu1797Trpfs frameshift NM_001407673.1:c.5389delT NP_001394602.1:p.Leu1797Trpfs frameshift NM_001407674.1:c.5389delT NP_001394603.1:p.Leu1797Trpfs frameshift NM_001407675.1:c.5389delT NP_001394604.1:p.Leu1797Trpfs frameshift NM_001407676.1:c.5389delT NP_001394605.1:p.Leu1797Trpfs frameshift NM_001407677.1:c.5389delT NP_001394606.1:p.Leu1797Trpfs frameshift NM_001407678.1:c.5389delT NP_001394607.1:p.Leu1797Trpfs frameshift NM_001407679.1:c.5389delT NP_001394608.1:p.Leu1797Trpfs frameshift NM_001407680.1:c.5389delT NP_001394609.1:p.Leu1797Trpfs frameshift NM_001407681.1:c.5386delT NP_001394610.1:p.Leu1796Trpfs frameshift NM_001407682.1:c.5386delT NP_001394611.1:p.Leu1796Trpfs frameshift NM_001407683.1:c.5386delT NP_001394612.1:p.Leu1796Trpfs frameshift NM_001407684.1:c.5386delT NP_001394613.1:p.Leu1796Trpfs frameshift NM_001407685.1:c.5386delT NP_001394614.1:p.Leu1796Trpfs frameshift NM_001407686.1:c.5386delT NP_001394615.1:p.Leu1796Trpfs frameshift NM_001407687.1:c.5386delT NP_001394616.1:p.Leu1796Trpfs frameshift NM_001407688.1:c.5386delT NP_001394617.1:p.Leu1796Trpfs frameshift NM_001407689.1:c.5386delT NP_001394618.1:p.Leu1796Trpfs frameshift NM_001407690.1:c.5383delT NP_001394619.1:p.Leu1795Trpfs frameshift NM_001407691.1:c.5383delT NP_001394620.1:p.Leu1795Trpfs frameshift NM_001407692.1:c.5374delT NP_001394621.1:p.Leu1792Trpfs frameshift NM_001407694.1:c.5374delT NP_001394623.1:p.Leu1792Trpfs frameshift NM_001407695.1:c.5374delT NP_001394624.1:p.Leu1792Trpfs frameshift NM_001407696.1:c.5374delT NP_001394625.1:p.Leu1792Trpfs frameshift NM_001407697.1:c.5374delT NP_001394626.1:p.Leu1792Trpfs frameshift NM_001407698.1:c.5374delT NP_001394627.1:p.Leu1792Trpfs frameshift NM_001407724.1:c.5374delT NP_001394653.1:p.Leu1792Trpfs frameshift NM_001407725.1:c.5374delT NP_001394654.1:p.Leu1792Trpfs frameshift NM_001407726.1:c.5374delT NP_001394655.1:p.Leu1792Trpfs frameshift NM_001407727.1:c.5374delT NP_001394656.1:p.Leu1792Trpfs frameshift NM_001407728.1:c.5374delT NP_001394657.1:p.Leu1792Trpfs frameshift NM_001407729.1:c.5374delT NP_001394658.1:p.Leu1792Trpfs frameshift NM_001407730.1:c.5374delT NP_001394659.1:p.Leu1792Trpfs frameshift NM_001407731.1:c.5374delT NP_001394660.1:p.Leu1792Trpfs frameshift NM_001407732.1:c.5371delT NP_001394661.1:p.Leu1791Trpfs frameshift NM_001407733.1:c.5371delT NP_001394662.1:p.Leu1791Trpfs frameshift NM_001407734.1:c.5371delT NP_001394663.1:p.Leu1791Trpfs frameshift NM_001407735.1:c.5371delT NP_001394664.1:p.Leu1791Trpfs frameshift NM_001407736.1:c.5371delT NP_001394665.1:p.Leu1791Trpfs frameshift NM_001407737.1:c.5371delT NP_001394666.1:p.Leu1791Trpfs frameshift NM_001407738.1:c.5371delT NP_001394667.1:p.Leu1791Trpfs frameshift NM_001407739.1:c.5371delT NP_001394668.1:p.Leu1791Trpfs frameshift NM_001407740.1:c.5371delT NP_001394669.1:p.Leu1791Trpfs frameshift NM_001407741.1:c.5371delT NP_001394670.1:p.Leu1791Trpfs frameshift NM_001407742.1:c.5371delT NP_001394671.1:p.Leu1791Trpfs frameshift NM_001407743.1:c.5371delT NP_001394672.1:p.Leu1791Trpfs frameshift NM_001407744.1:c.5371delT NP_001394673.1:p.Leu1791Trpfs frameshift NM_001407745.1:c.5371delT NP_001394674.1:p.Leu1791Trpfs frameshift NM_001407746.1:c.5371delT NP_001394675.1:p.Leu1791Trpfs frameshift NM_001407747.1:c.5371delT NP_001394676.1:p.Leu1791Trpfs frameshift NM_001407748.1:c.5371delT NP_001394677.1:p.Leu1791Trpfs frameshift NM_001407749.1:c.5371delT NP_001394678.1:p.Leu1791Trpfs frameshift NM_001407750.1:c.5371delT NP_001394679.1:p.Leu1791Trpfs frameshift NM_001407751.1:c.5371delT NP_001394680.1:p.Leu1791Trpfs frameshift NM_001407752.1:c.5371delT NP_001394681.1:p.Leu1791Trpfs frameshift NM_001407838.1:c.5368delT NP_001394767.1:p.Leu1790Trpfs frameshift NM_001407839.1:c.5368delT NP_001394768.1:p.Leu1790Trpfs frameshift NM_001407841.1:c.5368delT NP_001394770.1:p.Leu1790Trpfs frameshift NM_001407842.1:c.5368delT NP_001394771.1:p.Leu1790Trpfs frameshift NM_001407843.1:c.5368delT NP_001394772.1:p.Leu1790Trpfs frameshift NM_001407844.1:c.5368delT NP_001394773.1:p.Leu1790Trpfs frameshift NM_001407845.1:c.5368delT NP_001394774.1:p.Leu1790Trpfs frameshift NM_001407846.1:c.5368delT NP_001394775.1:p.Leu1790Trpfs frameshift NM_001407847.1:c.5368delT NP_001394776.1:p.Leu1790Trpfs frameshift NM_001407848.1:c.5368delT NP_001394777.1:p.Leu1790Trpfs frameshift NM_001407849.1:c.5368delT NP_001394778.1:p.Leu1790Trpfs frameshift NM_001407850.1:c.5368delT NP_001394779.1:p.Leu1790Trpfs frameshift NM_001407851.1:c.5368delT NP_001394780.1:p.Leu1790Trpfs frameshift NM_001407852.1:c.5368delT NP_001394781.1:p.Leu1790Trpfs frameshift NM_001407853.1:c.5368delT NP_001394782.1:p.Leu1790Trpfs frameshift NM_001407854.1:c.*29delT NM_001407858.1:c.*29delT NM_001407859.1:c.*29delT NM_001407860.1:c.*29delT NM_001407861.1:c.*29delT NM_001407862.1:c.5314delT NP_001394791.1:p.Leu1772Trpfs frameshift NM_001407863.1:c.5311delT NP_001394792.1:p.Leu1771Trpfs frameshift NM_001407874.1:c.5308delT NP_001394803.1:p.Leu1770Trpfs frameshift NM_001407875.1:c.5308delT NP_001394804.1:p.Leu1770Trpfs frameshift NM_001407879.1:c.5305delT NP_001394808.1:p.Leu1769Trpfs frameshift NM_001407881.1:c.5305delT NP_001394810.1:p.Leu1769Trpfs frameshift NM_001407882.1:c.5305delT NP_001394811.1:p.Leu1769Trpfs frameshift NM_001407884.1:c.5305delT NP_001394813.1:p.Leu1769Trpfs frameshift NM_001407885.1:c.5305delT NP_001394814.1:p.Leu1769Trpfs frameshift NM_001407886.1:c.5305delT NP_001394815.1:p.Leu1769Trpfs frameshift NM_001407887.1:c.5305delT NP_001394816.1:p.Leu1769Trpfs frameshift NM_001407889.1:c.5305delT NP_001394818.1:p.Leu1769Trpfs frameshift NM_001407894.1:c.5302delT NP_001394823.1:p.Leu1768Trpfs frameshift NM_001407895.1:c.5302delT NP_001394824.1:p.Leu1768Trpfs frameshift NM_001407896.1:c.5302delT NP_001394825.1:p.Leu1768Trpfs frameshift NM_001407897.1:c.5302delT NP_001394826.1:p.Leu1768Trpfs frameshift NM_001407898.1:c.5302delT NP_001394827.1:p.Leu1768Trpfs frameshift NM_001407899.1:c.5302delT NP_001394828.1:p.Leu1768Trpfs frameshift NM_001407900.1:c.5302delT NP_001394829.1:p.Leu1768Trpfs frameshift NM_001407902.1:c.5302delT NP_001394831.1:p.Leu1768Trpfs frameshift NM_001407904.1:c.5302delT NP_001394833.1:p.Leu1768Trpfs frameshift NM_001407906.1:c.5302delT NP_001394835.1:p.Leu1768Trpfs frameshift NM_001407907.1:c.5302delT NP_001394836.1:p.Leu1768Trpfs frameshift NM_001407908.1:c.5302delT NP_001394837.1:p.Leu1768Trpfs frameshift NM_001407909.1:c.5302delT NP_001394838.1:p.Leu1768Trpfs frameshift NM_001407910.1:c.5302delT NP_001394839.1:p.Leu1768Trpfs frameshift NM_001407915.1:c.5299delT NP_001394844.1:p.Leu1767Trpfs frameshift NM_001407916.1:c.5299delT NP_001394845.1:p.Leu1767Trpfs frameshift NM_001407917.1:c.5299delT NP_001394846.1:p.Leu1767Trpfs frameshift NM_001407918.1:c.5299delT NP_001394847.1:p.Leu1767Trpfs frameshift NM_001407919.1:c.5263delT NP_001394848.1:p.Leu1755Trpfs frameshift NM_001407920.1:c.5251delT NP_001394849.1:p.Leu1751Trpfs frameshift NM_001407921.1:c.5251delT NP_001394850.1:p.Leu1751Trpfs frameshift NM_001407922.1:c.5251delT NP_001394851.1:p.Leu1751Trpfs frameshift NM_001407923.1:c.5251delT NP_001394852.1:p.Leu1751Trpfs frameshift NM_001407924.1:c.5251delT NP_001394853.1:p.Leu1751Trpfs frameshift NM_001407925.1:c.5251delT NP_001394854.1:p.Leu1751Trpfs frameshift NM_001407926.1:c.5251delT NP_001394855.1:p.Leu1751Trpfs frameshift NM_001407927.1:c.5248delT NP_001394856.1:p.Leu1750Trpfs frameshift NM_001407928.1:c.5248delT NP_001394857.1:p.Leu1750Trpfs frameshift NM_001407929.1:c.5248delT NP_001394858.1:p.Leu1750Trpfs frameshift NM_001407930.1:c.5248delT NP_001394859.1:p.Leu1750Trpfs frameshift NM_001407931.1:c.5248delT NP_001394860.1:p.Leu1750Trpfs frameshift NM_001407932.1:c.5248delT NP_001394861.1:p.Leu1750Trpfs frameshift NM_001407933.1:c.5248delT NP_001394862.1:p.Leu1750Trpfs frameshift NM_001407934.1:c.5245delT NP_001394863.1:p.Leu1749Trpfs frameshift NM_001407935.1:c.5245delT NP_001394864.1:p.Leu1749Trpfs frameshift NM_001407936.1:c.5245delT NP_001394865.1:p.Leu1749Trpfs frameshift NM_001407937.1:c.*29delT NM_001407938.1:c.*29delT NM_001407939.1:c.*29delT NM_001407940.1:c.*29delT NM_001407941.1:c.*29delT NM_001407942.1:c.*29delT NM_001407943.1:c.*29delT NM_001407944.1:c.*29delT NM_001407945.1:c.*29delT NM_001407946.1:c.5182delT NP_001394875.1:p.Leu1728Trpfs frameshift NM_001407947.1:c.5182delT NP_001394876.1:p.Leu1728Trpfs frameshift NM_001407948.1:c.5182delT NP_001394877.1:p.Leu1728Trpfs frameshift NM_001407949.1:c.5182delT NP_001394878.1:p.Leu1728Trpfs frameshift NM_001407950.1:c.5179delT NP_001394879.1:p.Leu1727Trpfs frameshift NM_001407951.1:c.5179delT NP_001394880.1:p.Leu1727Trpfs frameshift NM_001407952.1:c.5179delT NP_001394881.1:p.Leu1727Trpfs frameshift NM_001407953.1:c.5179delT NP_001394882.1:p.Leu1727Trpfs frameshift NM_001407954.1:c.5179delT NP_001394883.1:p.Leu1727Trpfs frameshift NM_001407955.1:c.5179delT NP_001394884.1:p.Leu1727Trpfs frameshift NM_001407956.1:c.5176delT NP_001394885.1:p.Leu1726Trpfs frameshift NM_001407957.1:c.5176delT NP_001394886.1:p.Leu1726Trpfs frameshift NM_001407958.1:c.5176delT NP_001394887.1:p.Leu1726Trpfs frameshift NM_001407959.1:c.5134delT NP_001394888.1:p.Leu1712Trpfs frameshift NM_001407960.1:c.5131delT NP_001394889.1:p.Leu1711Trpfs frameshift NM_001407962.1:c.5131delT NP_001394891.1:p.Leu1711Trpfs frameshift NM_001407963.1:c.5128delT NP_001394892.1:p.Leu1710Trpfs frameshift NM_001407964.1:c.5053delT NP_001394893.1:p.Leu1685Trpfs frameshift NM_001407965.1:c.5008delT NP_001394894.1:p.Leu1670Trpfs frameshift NM_001407966.1:c.4627delT NP_001394895.1:p.Leu1543Trpfs frameshift NM_001407967.1:c.4624delT NP_001394896.1:p.Leu1542Trpfs frameshift NM_001407968.1:c.2911delT NP_001394897.1:p.Leu971Trpfs frameshift NM_001407969.1:c.2908delT NP_001394898.1:p.Leu970Trpfs frameshift NM_001407970.1:c.2272delT NP_001394899.1:p.Leu758Trpfs frameshift NM_001407971.1:c.2272delT NP_001394900.1:p.Leu758Trpfs frameshift NM_001407972.1:c.2269delT NP_001394901.1:p.Leu757Trpfs frameshift NM_001407973.1:c.2206delT NP_001394902.1:p.Leu736Trpfs frameshift NM_001407974.1:c.2206delT NP_001394903.1:p.Leu736Trpfs frameshift NM_001407975.1:c.2206delT NP_001394904.1:p.Leu736Trpfs frameshift NM_001407976.1:c.2206delT NP_001394905.1:p.Leu736Trpfs frameshift NM_001407977.1:c.2206delT NP_001394906.1:p.Leu736Trpfs frameshift NM_001407978.1:c.2206delT NP_001394907.1:p.Leu736Trpfs frameshift NM_001407979.1:c.2203delT NP_001394908.1:p.Leu735Trpfs frameshift NM_001407980.1:c.2203delT NP_001394909.1:p.Leu735Trpfs frameshift NM_001407981.1:c.2203delT NP_001394910.1:p.Leu735Trpfs frameshift NM_001407982.1:c.2203delT NP_001394911.1:p.Leu735Trpfs frameshift NM_001407983.1:c.2203delT NP_001394912.1:p.Leu735Trpfs frameshift NM_001407984.1:c.2203delT NP_001394913.1:p.Leu735Trpfs frameshift NM_001407985.1:c.2203delT NP_001394914.1:p.Leu735Trpfs frameshift NM_001407986.1:c.2203delT NP_001394915.1:p.Leu735Trpfs frameshift NM_001407990.1:c.2203delT NP_001394919.1:p.Leu735Trpfs frameshift NM_001407991.1:c.2203delT NP_001394920.1:p.Leu735Trpfs frameshift NM_001407992.1:c.2203delT NP_001394921.1:p.Leu735Trpfs frameshift NM_001407993.1:c.2203delT NP_001394922.1:p.Leu735Trpfs frameshift NM_001408392.1:c.2200delT NP_001395321.1:p.Leu734Trpfs frameshift NM_001408396.1:c.2200delT NP_001395325.1:p.Leu734Trpfs frameshift NM_001408397.1:c.2200delT NP_001395326.1:p.Leu734Trpfs frameshift NM_001408398.1:c.2200delT NP_001395327.1:p.Leu734Trpfs frameshift NM_001408399.1:c.2200delT NP_001395328.1:p.Leu734Trpfs frameshift NM_001408400.1:c.2200delT NP_001395329.1:p.Leu734Trpfs frameshift NM_001408401.1:c.2200delT NP_001395330.1:p.Leu734Trpfs frameshift NM_001408402.1:c.2200delT NP_001395331.1:p.Leu734Trpfs frameshift NM_001408403.1:c.2200delT NP_001395332.1:p.Leu734Trpfs frameshift NM_001408404.1:c.2200delT NP_001395333.1:p.Leu734Trpfs frameshift NM_001408406.1:c.2197delT NP_001395335.1:p.Leu733Trpfs frameshift NM_001408407.1:c.2197delT NP_001395336.1:p.Leu733Trpfs frameshift NM_001408408.1:c.2197delT NP_001395337.1:p.Leu733Trpfs frameshift NM_001408409.1:c.2194delT NP_001395338.1:p.Leu732Trpfs frameshift NM_001408410.1:c.2131delT NP_001395339.1:p.Leu711Trpfs frameshift NM_001408411.1:c.2128delT NP_001395340.1:p.Leu710Trpfs frameshift NM_001408412.1:c.2125delT NP_001395341.1:p.Leu709Trpfs frameshift NM_001408413.1:c.2125delT NP_001395342.1:p.Leu709Trpfs frameshift NM_001408414.1:c.2125delT NP_001395343.1:p.Leu709Trpfs frameshift NM_001408415.1:c.2125delT NP_001395344.1:p.Leu709Trpfs frameshift NM_001408416.1:c.2125delT NP_001395345.1:p.Leu709Trpfs frameshift NM_001408418.1:c.2089delT NP_001395347.1:p.Leu697Trpfs frameshift NM_001408419.1:c.2089delT NP_001395348.1:p.Leu697Trpfs frameshift NM_001408420.1:c.2089delT NP_001395349.1:p.Leu697Trpfs frameshift NM_001408421.1:c.2086delT NP_001395350.1:p.Leu696Trpfs frameshift NM_001408422.1:c.2086delT NP_001395351.1:p.Leu696Trpfs frameshift NM_001408423.1:c.2086delT NP_001395352.1:p.Leu696Trpfs frameshift NM_001408424.1:c.2086delT NP_001395353.1:p.Leu696Trpfs frameshift NM_001408425.1:c.2083delT NP_001395354.1:p.Leu695Trpfs frameshift NM_001408426.1:c.2083delT NP_001395355.1:p.Leu695Trpfs frameshift NM_001408427.1:c.2083delT NP_001395356.1:p.Leu695Trpfs frameshift NM_001408428.1:c.2083delT NP_001395357.1:p.Leu695Trpfs frameshift NM_001408429.1:c.2083delT NP_001395358.1:p.Leu695Trpfs frameshift NM_001408430.1:c.2083delT NP_001395359.1:p.Leu695Trpfs frameshift NM_001408431.1:c.2083delT NP_001395360.1:p.Leu695Trpfs frameshift NM_001408432.1:c.2080delT NP_001395361.1:p.Leu694Trpfs frameshift NM_001408433.1:c.2080delT NP_001395362.1:p.Leu694Trpfs frameshift NM_001408434.1:c.2080delT NP_001395363.1:p.Leu694Trpfs frameshift NM_001408435.1:c.2080delT NP_001395364.1:p.Leu694Trpfs frameshift NM_001408436.1:c.2080delT NP_001395365.1:p.Leu694Trpfs frameshift NM_001408437.1:c.2080delT NP_001395366.1:p.Leu694Trpfs frameshift NM_001408438.1:c.2080delT NP_001395367.1:p.Leu694Trpfs frameshift NM_001408439.1:c.2080delT NP_001395368.1:p.Leu694Trpfs frameshift NM_001408440.1:c.2080delT NP_001395369.1:p.Leu694Trpfs frameshift NM_001408441.1:c.2080delT NP_001395370.1:p.Leu694Trpfs frameshift NM_001408442.1:c.2080delT NP_001395371.1:p.Leu694Trpfs frameshift NM_001408443.1:c.2080delT NP_001395372.1:p.Leu694Trpfs frameshift NM_001408444.1:c.2080delT NP_001395373.1:p.Leu694Trpfs frameshift NM_001408445.1:c.2077delT NP_001395374.1:p.Leu693Trpfs frameshift NM_001408446.1:c.2077delT NP_001395375.1:p.Leu693Trpfs frameshift NM_001408447.1:c.2077delT NP_001395376.1:p.Leu693Trpfs frameshift NM_001408448.1:c.2077delT NP_001395377.1:p.Leu693Trpfs frameshift NM_001408450.1:c.2077delT NP_001395379.1:p.Leu693Trpfs frameshift NM_001408451.1:c.2071delT NP_001395380.1:p.Leu691Trpfs frameshift NM_001408452.1:c.2065delT NP_001395381.1:p.Leu689Trpfs frameshift NM_001408453.1:c.2065delT NP_001395382.1:p.Leu689Trpfs frameshift NM_001408454.1:c.2065delT NP_001395383.1:p.Leu689Trpfs frameshift NM_001408455.1:c.2065delT NP_001395384.1:p.Leu689Trpfs frameshift NM_001408456.1:c.2065delT NP_001395385.1:p.Leu689Trpfs frameshift NM_001408457.1:c.2065delT NP_001395386.1:p.Leu689Trpfs frameshift NM_001408458.1:c.2062delT NP_001395387.1:p.Leu688Trpfs frameshift NM_001408459.1:c.2062delT NP_001395388.1:p.Leu688Trpfs frameshift NM_001408460.1:c.2062delT NP_001395389.1:p.Leu688Trpfs frameshift NM_001408461.1:c.2062delT NP_001395390.1:p.Leu688Trpfs frameshift NM_001408462.1:c.2062delT NP_001395391.1:p.Leu688Trpfs frameshift NM_001408463.1:c.2062delT NP_001395392.1:p.Leu688Trpfs frameshift NM_001408464.1:c.2062delT NP_001395393.1:p.Leu688Trpfs frameshift NM_001408465.1:c.2062delT NP_001395394.1:p.Leu688Trpfs frameshift NM_001408466.1:c.2062delT NP_001395395.1:p.Leu688Trpfs frameshift NM_001408467.1:c.2062delT NP_001395396.1:p.Leu688Trpfs frameshift NM_001408468.1:c.2059delT NP_001395397.1:p.Leu687Trpfs frameshift NM_001408469.1:c.2059delT NP_001395398.1:p.Leu687Trpfs frameshift NM_001408470.1:c.2059delT NP_001395399.1:p.Leu687Trpfs frameshift NM_001408472.1:c.*29delT NM_001408473.1:c.*29delT NM_001408474.1:c.2005delT NP_001395403.1:p.Leu669Trpfs frameshift NM_001408475.1:c.2002delT NP_001395404.1:p.Leu668Trpfs frameshift NM_001408476.1:c.2002delT NP_001395405.1:p.Leu668Trpfs frameshift NM_001408478.1:c.1996delT NP_001395407.1:p.Leu666Trpfs frameshift NM_001408479.1:c.1996delT NP_001395408.1:p.Leu666Trpfs frameshift NM_001408480.1:c.1996delT NP_001395409.1:p.Leu666Trpfs frameshift NM_001408481.1:c.1993delT NP_001395410.1:p.Leu665Trpfs frameshift NM_001408482.1:c.1993delT NP_001395411.1:p.Leu665Trpfs frameshift NM_001408483.1:c.1993delT NP_001395412.1:p.Leu665Trpfs frameshift NM_001408484.1:c.1993delT NP_001395413.1:p.Leu665Trpfs frameshift NM_001408485.1:c.1993delT NP_001395414.1:p.Leu665Trpfs frameshift NM_001408489.1:c.1993delT NP_001395418.1:p.Leu665Trpfs frameshift NM_001408490.1:c.1993delT NP_001395419.1:p.Leu665Trpfs frameshift NM_001408491.1:c.1993delT NP_001395420.1:p.Leu665Trpfs frameshift NM_001408492.1:c.1990delT NP_001395421.1:p.Leu664Trpfs frameshift NM_001408493.1:c.1990delT NP_001395422.1:p.Leu664Trpfs frameshift NM_001408494.1:c.1966delT NP_001395423.1:p.Leu656Trpfs frameshift NM_001408495.1:c.1960delT NP_001395424.1:p.Leu654Trpfs frameshift NM_001408496.1:c.1942delT NP_001395425.1:p.Leu648Trpfs frameshift NM_001408497.1:c.1942delT NP_001395426.1:p.Leu648Trpfs frameshift NM_001408498.1:c.1942delT NP_001395427.1:p.Leu648Trpfs frameshift NM_001408499.1:c.1942delT NP_001395428.1:p.Leu648Trpfs frameshift NM_001408500.1:c.1942delT NP_001395429.1:p.Leu648Trpfs frameshift NM_001408501.1:c.1942delT NP_001395430.1:p.Leu648Trpfs frameshift NM_001408502.1:c.1939delT NP_001395431.1:p.Leu647Trpfs frameshift NM_001408503.1:c.1939delT NP_001395432.1:p.Leu647Trpfs frameshift NM_001408504.1:c.1939delT NP_001395433.1:p.Leu647Trpfs frameshift NM_001408505.1:c.1936delT NP_001395434.1:p.Leu646Trpfs frameshift NM_001408506.1:c.1879delT NP_001395435.1:p.Leu627Trpfs frameshift NM_001408507.1:c.1876delT NP_001395436.1:p.Leu626Trpfs frameshift NM_001408508.1:c.1867delT NP_001395437.1:p.Leu623Trpfs frameshift NM_001408509.1:c.1864delT NP_001395438.1:p.Leu622Trpfs frameshift NM_001408510.1:c.1825delT NP_001395439.1:p.Leu609Trpfs frameshift NM_001408511.1:c.1822delT NP_001395440.1:p.Leu608Trpfs frameshift NM_001408512.1:c.1702delT NP_001395441.1:p.Leu568Trpfs frameshift NM_001408513.1:c.1675delT NP_001395442.1:p.Leu559Trpfs frameshift NM_001408514.1:c.1279delT NP_001395443.1:p.Leu427Trpfs frameshift NM_007297.4:c.5375del NP_009228.2:p.Leu1792fs frameshift NM_007298.4:c.2203delT NP_009229.2:p.Leu735Trpfs frameshift NM_007299.4:c.*30del 3 prime UTR NM_007300.4:c.5579del NP_009231.2:p.Leu1860fs frameshift NM_007304.2:c.2203delT NP_009235.2:p.Leu735Trpfs frameshift NR_027676.2:n.5693del non-coding transcript variant NC_000017.11:g.43045755del NC_000017.10:g.41197772del NG_005905.2:g.172230del LRG_292:g.172230del LRG_292t1:c.5515del LRG_292p1:p.Leu1839Trpfs - Protein change
- L1839fs, L1792fs, L1860fs, L735fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045753:AA:A
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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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Mar 27, 2021 | RCV001887838.6 |
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
(Mar 27, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002120673.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Leu1839Trpfs*4) 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.Leu1839Trpfs*4) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BRCA1 protein. Other variant(s) that disrupt this region (p.Tyr1853*) have been determined to be pathogenic (PMID: 24504028, 20104584, 21922593, 10811118, 11739404, 12400015). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with BRCA1-related conditions. (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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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
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 |
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 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Text-mined citations for rs2152543224 ...
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.