ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His)
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.5557T>C (p.Tyr1853His)
Variation ID: 865014 Accession: VCV000865014.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045713 (GRCh38) [ NCBI UCSC ] 17: 41197730 (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 Apr 18, 2020 Feb 28, 2024 Mar 29, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5557T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1853His missense NM_001407571.1:c.5344T>C NP_001394500.1:p.Tyr1782His missense NM_001407581.1:c.5623T>C NP_001394510.1:p.Tyr1875His missense NM_001407582.1:c.5623T>C NP_001394511.1:p.Tyr1875His missense NM_001407583.1:c.5620T>C NP_001394512.1:p.Tyr1874His missense NM_001407585.1:c.5620T>C NP_001394514.1:p.Tyr1874His missense NM_001407587.1:c.5620T>C NP_001394516.1:p.Tyr1874His missense NM_001407590.1:c.5617T>C NP_001394519.1:p.Tyr1873His missense NM_001407591.1:c.5617T>C NP_001394520.1:p.Tyr1873His missense NM_001407593.1:c.5557T>C NP_001394522.1:p.Tyr1853His missense NM_001407594.1:c.5557T>C NP_001394523.1:p.Tyr1853His missense NM_001407596.1:c.5557T>C NP_001394525.1:p.Tyr1853His missense NM_001407597.1:c.5557T>C NP_001394526.1:p.Tyr1853His missense NM_001407598.1:c.5557T>C NP_001394527.1:p.Tyr1853His missense NM_001407602.1:c.5557T>C NP_001394531.1:p.Tyr1853His missense NM_001407603.1:c.5557T>C NP_001394532.1:p.Tyr1853His missense NM_001407605.1:c.5557T>C NP_001394534.1:p.Tyr1853His missense NM_001407610.1:c.5554T>C NP_001394539.1:p.Tyr1852His missense NM_001407611.1:c.5554T>C NP_001394540.1:p.Tyr1852His missense NM_001407612.1:c.5554T>C NP_001394541.1:p.Tyr1852His missense NM_001407613.1:c.5554T>C NP_001394542.1:p.Tyr1852His missense NM_001407614.1:c.5554T>C NP_001394543.1:p.Tyr1852His missense NM_001407615.1:c.5554T>C NP_001394544.1:p.Tyr1852His missense NM_001407616.1:c.5554T>C NP_001394545.1:p.Tyr1852His missense NM_001407617.1:c.5554T>C NP_001394546.1:p.Tyr1852His missense NM_001407618.1:c.5554T>C NP_001394547.1:p.Tyr1852His missense NM_001407619.1:c.5554T>C NP_001394548.1:p.Tyr1852His missense NM_001407620.1:c.5554T>C NP_001394549.1:p.Tyr1852His missense NM_001407621.1:c.5554T>C NP_001394550.1:p.Tyr1852His missense NM_001407622.1:c.5554T>C NP_001394551.1:p.Tyr1852His missense NM_001407623.1:c.5554T>C NP_001394552.1:p.Tyr1852His missense NM_001407624.1:c.5554T>C NP_001394553.1:p.Tyr1852His missense NM_001407625.1:c.5554T>C NP_001394554.1:p.Tyr1852His missense NM_001407626.1:c.5554T>C NP_001394555.1:p.Tyr1852His missense NM_001407627.1:c.5551T>C NP_001394556.1:p.Tyr1851His missense NM_001407628.1:c.5551T>C NP_001394557.1:p.Tyr1851His missense NM_001407629.1:c.5551T>C NP_001394558.1:p.Tyr1851His missense NM_001407630.1:c.5551T>C NP_001394559.1:p.Tyr1851His missense NM_001407631.1:c.5551T>C NP_001394560.1:p.Tyr1851His missense NM_001407632.1:c.5551T>C NP_001394561.1:p.Tyr1851His missense NM_001407633.1:c.5551T>C NP_001394562.1:p.Tyr1851His missense NM_001407634.1:c.5551T>C NP_001394563.1:p.Tyr1851His missense NM_001407635.1:c.5551T>C NP_001394564.1:p.Tyr1851His missense NM_001407636.1:c.5551T>C NP_001394565.1:p.Tyr1851His missense NM_001407637.1:c.5551T>C NP_001394566.1:p.Tyr1851His missense NM_001407638.1:c.5551T>C NP_001394567.1:p.Tyr1851His missense NM_001407639.1:c.5551T>C NP_001394568.1:p.Tyr1851His missense NM_001407640.1:c.5551T>C NP_001394569.1:p.Tyr1851His missense NM_001407641.1:c.5551T>C NP_001394570.1:p.Tyr1851His missense NM_001407642.1:c.5551T>C NP_001394571.1:p.Tyr1851His missense NM_001407644.1:c.5548T>C NP_001394573.1:p.Tyr1850His missense NM_001407645.1:c.5548T>C NP_001394574.1:p.Tyr1850His missense NM_001407646.1:c.5545T>C NP_001394575.1:p.Tyr1849His missense NM_001407647.1:c.5542T>C NP_001394576.1:p.Tyr1848His missense NM_001407648.1:c.5500T>C NP_001394577.1:p.Tyr1834His missense NM_001407649.1:c.5497T>C NP_001394578.1:p.Tyr1833His missense NM_001407652.1:c.5479T>C NP_001394581.1:p.Tyr1827His missense NM_001407653.1:c.5479T>C NP_001394582.1:p.Tyr1827His missense NM_001407654.1:c.5479T>C NP_001394583.1:p.Tyr1827His missense NM_001407655.1:c.5479T>C NP_001394584.1:p.Tyr1827His missense NM_001407656.1:c.5476T>C NP_001394585.1:p.Tyr1826His missense NM_001407657.1:c.5476T>C NP_001394586.1:p.Tyr1826His missense NM_001407658.1:c.5476T>C NP_001394587.1:p.Tyr1826His missense NM_001407659.1:c.5473T>C NP_001394588.1:p.Tyr1825His missense NM_001407660.1:c.5473T>C NP_001394589.1:p.Tyr1825His missense NM_001407661.1:c.5473T>C NP_001394590.1:p.Tyr1825His missense NM_001407662.1:c.5473T>C NP_001394591.1:p.Tyr1825His missense NM_001407663.1:c.5473T>C NP_001394592.1:p.Tyr1825His missense NM_001407664.1:c.5434T>C NP_001394593.1:p.Tyr1812His missense NM_001407665.1:c.5434T>C NP_001394594.1:p.Tyr1812His missense NM_001407666.1:c.5434T>C NP_001394595.1:p.Tyr1812His missense NM_001407667.1:c.5434T>C NP_001394596.1:p.Tyr1812His missense NM_001407668.1:c.5434T>C NP_001394597.1:p.Tyr1812His missense NM_001407669.1:c.5434T>C NP_001394598.1:p.Tyr1812His missense NM_001407670.1:c.5431T>C NP_001394599.1:p.Tyr1811His missense NM_001407671.1:c.5431T>C NP_001394600.1:p.Tyr1811His missense NM_001407672.1:c.5431T>C NP_001394601.1:p.Tyr1811His missense NM_001407673.1:c.5431T>C NP_001394602.1:p.Tyr1811His missense NM_001407674.1:c.5431T>C NP_001394603.1:p.Tyr1811His missense NM_001407675.1:c.5431T>C NP_001394604.1:p.Tyr1811His missense NM_001407676.1:c.5431T>C NP_001394605.1:p.Tyr1811His missense NM_001407677.1:c.5431T>C NP_001394606.1:p.Tyr1811His missense NM_001407678.1:c.5431T>C NP_001394607.1:p.Tyr1811His missense NM_001407679.1:c.5431T>C NP_001394608.1:p.Tyr1811His missense NM_001407680.1:c.5431T>C NP_001394609.1:p.Tyr1811His missense NM_001407681.1:c.5428T>C NP_001394610.1:p.Tyr1810His missense NM_001407682.1:c.5428T>C NP_001394611.1:p.Tyr1810His missense NM_001407683.1:c.5428T>C NP_001394612.1:p.Tyr1810His missense NM_001407684.1:c.5428T>C NP_001394613.1:p.Tyr1810His missense NM_001407685.1:c.5428T>C NP_001394614.1:p.Tyr1810His missense NM_001407686.1:c.5428T>C NP_001394615.1:p.Tyr1810His missense NM_001407687.1:c.5428T>C NP_001394616.1:p.Tyr1810His missense NM_001407688.1:c.5428T>C NP_001394617.1:p.Tyr1810His missense NM_001407689.1:c.5428T>C NP_001394618.1:p.Tyr1810His missense NM_001407690.1:c.5425T>C NP_001394619.1:p.Tyr1809His missense NM_001407691.1:c.5425T>C NP_001394620.1:p.Tyr1809His missense NM_001407692.1:c.5416T>C NP_001394621.1:p.Tyr1806His missense NM_001407694.1:c.5416T>C NP_001394623.1:p.Tyr1806His missense NM_001407695.1:c.5416T>C NP_001394624.1:p.Tyr1806His missense NM_001407696.1:c.5416T>C NP_001394625.1:p.Tyr1806His missense NM_001407697.1:c.5416T>C NP_001394626.1:p.Tyr1806His missense NM_001407698.1:c.5416T>C NP_001394627.1:p.Tyr1806His missense NM_001407724.1:c.5416T>C NP_001394653.1:p.Tyr1806His missense NM_001407725.1:c.5416T>C NP_001394654.1:p.Tyr1806His missense NM_001407726.1:c.5416T>C NP_001394655.1:p.Tyr1806His missense NM_001407727.1:c.5416T>C NP_001394656.1:p.Tyr1806His missense NM_001407728.1:c.5416T>C NP_001394657.1:p.Tyr1806His missense NM_001407729.1:c.5416T>C NP_001394658.1:p.Tyr1806His missense NM_001407730.1:c.5416T>C NP_001394659.1:p.Tyr1806His missense NM_001407731.1:c.5416T>C NP_001394660.1:p.Tyr1806His missense NM_001407732.1:c.5413T>C NP_001394661.1:p.Tyr1805His missense NM_001407733.1:c.5413T>C NP_001394662.1:p.Tyr1805His missense NM_001407734.1:c.5413T>C NP_001394663.1:p.Tyr1805His missense NM_001407735.1:c.5413T>C NP_001394664.1:p.Tyr1805His missense NM_001407736.1:c.5413T>C NP_001394665.1:p.Tyr1805His missense NM_001407737.1:c.5413T>C NP_001394666.1:p.Tyr1805His missense NM_001407738.1:c.5413T>C NP_001394667.1:p.Tyr1805His missense NM_001407739.1:c.5413T>C NP_001394668.1:p.Tyr1805His missense NM_001407740.1:c.5413T>C NP_001394669.1:p.Tyr1805His missense NM_001407741.1:c.5413T>C NP_001394670.1:p.Tyr1805His missense NM_001407742.1:c.5413T>C NP_001394671.1:p.Tyr1805His missense NM_001407743.1:c.5413T>C NP_001394672.1:p.Tyr1805His missense NM_001407744.1:c.5413T>C NP_001394673.1:p.Tyr1805His missense NM_001407745.1:c.5413T>C NP_001394674.1:p.Tyr1805His missense NM_001407746.1:c.5413T>C NP_001394675.1:p.Tyr1805His missense NM_001407747.1:c.5413T>C NP_001394676.1:p.Tyr1805His missense NM_001407748.1:c.5413T>C NP_001394677.1:p.Tyr1805His missense NM_001407749.1:c.5413T>C NP_001394678.1:p.Tyr1805His missense NM_001407750.1:c.5413T>C NP_001394679.1:p.Tyr1805His missense NM_001407751.1:c.5413T>C NP_001394680.1:p.Tyr1805His missense NM_001407752.1:c.5413T>C NP_001394681.1:p.Tyr1805His missense NM_001407838.1:c.5410T>C NP_001394767.1:p.Tyr1804His missense NM_001407839.1:c.5410T>C NP_001394768.1:p.Tyr1804His missense NM_001407841.1:c.5410T>C NP_001394770.1:p.Tyr1804His missense NM_001407842.1:c.5410T>C NP_001394771.1:p.Tyr1804His missense NM_001407843.1:c.5410T>C NP_001394772.1:p.Tyr1804His missense NM_001407844.1:c.5410T>C NP_001394773.1:p.Tyr1804His missense NM_001407845.1:c.5410T>C NP_001394774.1:p.Tyr1804His missense NM_001407846.1:c.5410T>C NP_001394775.1:p.Tyr1804His missense NM_001407847.1:c.5410T>C NP_001394776.1:p.Tyr1804His missense NM_001407848.1:c.5410T>C NP_001394777.1:p.Tyr1804His missense NM_001407849.1:c.5410T>C NP_001394778.1:p.Tyr1804His missense NM_001407850.1:c.5410T>C NP_001394779.1:p.Tyr1804His missense NM_001407851.1:c.5410T>C NP_001394780.1:p.Tyr1804His missense NM_001407852.1:c.5410T>C NP_001394781.1:p.Tyr1804His missense NM_001407853.1:c.5410T>C NP_001394782.1:p.Tyr1804His missense NM_001407854.1:c.*71T>C NM_001407858.1:c.*71T>C NM_001407859.1:c.*71T>C NM_001407860.1:c.*71T>C NM_001407861.1:c.*71T>C NM_001407862.1:c.5356T>C NP_001394791.1:p.Tyr1786His missense NM_001407863.1:c.5353T>C NP_001394792.1:p.Tyr1785His missense NM_001407874.1:c.5350T>C NP_001394803.1:p.Tyr1784His missense NM_001407875.1:c.5350T>C NP_001394804.1:p.Tyr1784His missense NM_001407879.1:c.5347T>C NP_001394808.1:p.Tyr1783His missense NM_001407881.1:c.5347T>C NP_001394810.1:p.Tyr1783His missense NM_001407882.1:c.5347T>C NP_001394811.1:p.Tyr1783His missense NM_001407884.1:c.5347T>C NP_001394813.1:p.Tyr1783His missense NM_001407885.1:c.5347T>C NP_001394814.1:p.Tyr1783His missense NM_001407886.1:c.5347T>C NP_001394815.1:p.Tyr1783His missense NM_001407887.1:c.5347T>C NP_001394816.1:p.Tyr1783His missense NM_001407889.1:c.5347T>C NP_001394818.1:p.Tyr1783His missense NM_001407894.1:c.5344T>C NP_001394823.1:p.Tyr1782His missense NM_001407895.1:c.5344T>C NP_001394824.1:p.Tyr1782His missense NM_001407896.1:c.5344T>C NP_001394825.1:p.Tyr1782His missense NM_001407897.1:c.5344T>C NP_001394826.1:p.Tyr1782His missense NM_001407898.1:c.5344T>C NP_001394827.1:p.Tyr1782His missense NM_001407899.1:c.5344T>C NP_001394828.1:p.Tyr1782His missense NM_001407900.1:c.5344T>C NP_001394829.1:p.Tyr1782His missense NM_001407902.1:c.5344T>C NP_001394831.1:p.Tyr1782His missense NM_001407904.1:c.5344T>C NP_001394833.1:p.Tyr1782His missense NM_001407906.1:c.5344T>C NP_001394835.1:p.Tyr1782His missense NM_001407907.1:c.5344T>C NP_001394836.1:p.Tyr1782His missense NM_001407908.1:c.5344T>C NP_001394837.1:p.Tyr1782His missense NM_001407909.1:c.5344T>C NP_001394838.1:p.Tyr1782His missense NM_001407910.1:c.5344T>C NP_001394839.1:p.Tyr1782His missense NM_001407915.1:c.5341T>C NP_001394844.1:p.Tyr1781His missense NM_001407916.1:c.5341T>C NP_001394845.1:p.Tyr1781His missense NM_001407917.1:c.5341T>C NP_001394846.1:p.Tyr1781His missense NM_001407918.1:c.5341T>C NP_001394847.1:p.Tyr1781His missense NM_001407919.1:c.5305T>C NP_001394848.1:p.Tyr1769His missense NM_001407920.1:c.5293T>C NP_001394849.1:p.Tyr1765His missense NM_001407921.1:c.5293T>C NP_001394850.1:p.Tyr1765His missense NM_001407922.1:c.5293T>C NP_001394851.1:p.Tyr1765His missense NM_001407923.1:c.5293T>C NP_001394852.1:p.Tyr1765His missense NM_001407924.1:c.5293T>C NP_001394853.1:p.Tyr1765His missense NM_001407925.1:c.5293T>C NP_001394854.1:p.Tyr1765His missense NM_001407926.1:c.5293T>C NP_001394855.1:p.Tyr1765His missense NM_001407927.1:c.5290T>C NP_001394856.1:p.Tyr1764His missense NM_001407928.1:c.5290T>C NP_001394857.1:p.Tyr1764His missense NM_001407929.1:c.5290T>C NP_001394858.1:p.Tyr1764His missense NM_001407930.1:c.5290T>C NP_001394859.1:p.Tyr1764His missense NM_001407931.1:c.5290T>C NP_001394860.1:p.Tyr1764His missense NM_001407932.1:c.5290T>C NP_001394861.1:p.Tyr1764His missense NM_001407933.1:c.5290T>C NP_001394862.1:p.Tyr1764His missense NM_001407934.1:c.5287T>C NP_001394863.1:p.Tyr1763His missense NM_001407935.1:c.5287T>C NP_001394864.1:p.Tyr1763His missense NM_001407936.1:c.5287T>C NP_001394865.1:p.Tyr1763His missense NM_001407937.1:c.*71T>C NM_001407938.1:c.*71T>C NM_001407939.1:c.*71T>C NM_001407940.1:c.*71T>C NM_001407941.1:c.*71T>C NM_001407942.1:c.*71T>C NM_001407943.1:c.*71T>C NM_001407944.1:c.*71T>C NM_001407945.1:c.*71T>C NM_001407946.1:c.5224T>C NP_001394875.1:p.Tyr1742His missense NM_001407947.1:c.5224T>C NP_001394876.1:p.Tyr1742His missense NM_001407948.1:c.5224T>C NP_001394877.1:p.Tyr1742His missense NM_001407949.1:c.5224T>C NP_001394878.1:p.Tyr1742His missense NM_001407950.1:c.5221T>C NP_001394879.1:p.Tyr1741His missense NM_001407951.1:c.5221T>C NP_001394880.1:p.Tyr1741His missense NM_001407952.1:c.5221T>C NP_001394881.1:p.Tyr1741His missense NM_001407953.1:c.5221T>C NP_001394882.1:p.Tyr1741His missense NM_001407954.1:c.5221T>C NP_001394883.1:p.Tyr1741His missense NM_001407955.1:c.5221T>C NP_001394884.1:p.Tyr1741His missense NM_001407956.1:c.5218T>C NP_001394885.1:p.Tyr1740His missense NM_001407957.1:c.5218T>C NP_001394886.1:p.Tyr1740His missense NM_001407958.1:c.5218T>C NP_001394887.1:p.Tyr1740His missense NM_001407959.1:c.5176T>C NP_001394888.1:p.Tyr1726His missense NM_001407960.1:c.5173T>C NP_001394889.1:p.Tyr1725His missense NM_001407962.1:c.5173T>C NP_001394891.1:p.Tyr1725His missense NM_001407963.1:c.5170T>C NP_001394892.1:p.Tyr1724His missense NM_001407964.1:c.5095T>C NP_001394893.1:p.Tyr1699His missense NM_001407965.1:c.5050T>C NP_001394894.1:p.Tyr1684His missense NM_001407966.1:c.4669T>C NP_001394895.1:p.Tyr1557His missense NM_001407967.1:c.4666T>C NP_001394896.1:p.Tyr1556His missense NM_001407968.1:c.2953T>C NP_001394897.1:p.Tyr985His missense NM_001407969.1:c.2950T>C NP_001394898.1:p.Tyr984His missense NM_001407970.1:c.2314T>C NP_001394899.1:p.Tyr772His missense NM_001407971.1:c.2314T>C NP_001394900.1:p.Tyr772His missense NM_001407972.1:c.2311T>C NP_001394901.1:p.Tyr771His missense NM_001407973.1:c.2248T>C NP_001394902.1:p.Tyr750His missense NM_001407974.1:c.2248T>C NP_001394903.1:p.Tyr750His missense NM_001407975.1:c.2248T>C NP_001394904.1:p.Tyr750His missense NM_001407976.1:c.2248T>C NP_001394905.1:p.Tyr750His missense NM_001407977.1:c.2248T>C NP_001394906.1:p.Tyr750His missense NM_001407978.1:c.2248T>C NP_001394907.1:p.Tyr750His missense NM_001407979.1:c.2245T>C NP_001394908.1:p.Tyr749His missense NM_001407980.1:c.2245T>C NP_001394909.1:p.Tyr749His missense NM_001407981.1:c.2245T>C NP_001394910.1:p.Tyr749His missense NM_001407982.1:c.2245T>C NP_001394911.1:p.Tyr749His missense NM_001407983.1:c.2245T>C NP_001394912.1:p.Tyr749His missense NM_001407984.1:c.2245T>C NP_001394913.1:p.Tyr749His missense NM_001407985.1:c.2245T>C NP_001394914.1:p.Tyr749His missense NM_001407986.1:c.2245T>C NP_001394915.1:p.Tyr749His missense NM_001407990.1:c.2245T>C NP_001394919.1:p.Tyr749His missense NM_001407991.1:c.2245T>C NP_001394920.1:p.Tyr749His missense NM_001407992.1:c.2245T>C NP_001394921.1:p.Tyr749His missense NM_001407993.1:c.2245T>C NP_001394922.1:p.Tyr749His missense NM_001408392.1:c.2242T>C NP_001395321.1:p.Tyr748His missense NM_001408396.1:c.2242T>C NP_001395325.1:p.Tyr748His missense NM_001408397.1:c.2242T>C NP_001395326.1:p.Tyr748His missense NM_001408398.1:c.2242T>C NP_001395327.1:p.Tyr748His missense NM_001408399.1:c.2242T>C NP_001395328.1:p.Tyr748His missense NM_001408400.1:c.2242T>C NP_001395329.1:p.Tyr748His missense NM_001408401.1:c.2242T>C NP_001395330.1:p.Tyr748His missense NM_001408402.1:c.2242T>C NP_001395331.1:p.Tyr748His missense NM_001408403.1:c.2242T>C NP_001395332.1:p.Tyr748His missense NM_001408404.1:c.2242T>C NP_001395333.1:p.Tyr748His missense NM_001408406.1:c.2239T>C NP_001395335.1:p.Tyr747His missense NM_001408407.1:c.2239T>C NP_001395336.1:p.Tyr747His missense NM_001408408.1:c.2239T>C NP_001395337.1:p.Tyr747His missense NM_001408409.1:c.2236T>C NP_001395338.1:p.Tyr746His missense NM_001408410.1:c.2173T>C NP_001395339.1:p.Tyr725His missense NM_001408411.1:c.2170T>C NP_001395340.1:p.Tyr724His missense NM_001408412.1:c.2167T>C NP_001395341.1:p.Tyr723His missense NM_001408413.1:c.2167T>C NP_001395342.1:p.Tyr723His missense NM_001408414.1:c.2167T>C NP_001395343.1:p.Tyr723His missense NM_001408415.1:c.2167T>C NP_001395344.1:p.Tyr723His missense NM_001408416.1:c.2167T>C NP_001395345.1:p.Tyr723His missense NM_001408418.1:c.2131T>C NP_001395347.1:p.Tyr711His missense NM_001408419.1:c.2131T>C NP_001395348.1:p.Tyr711His missense NM_001408420.1:c.2131T>C NP_001395349.1:p.Tyr711His missense NM_001408421.1:c.2128T>C NP_001395350.1:p.Tyr710His missense NM_001408422.1:c.2128T>C NP_001395351.1:p.Tyr710His missense NM_001408423.1:c.2128T>C NP_001395352.1:p.Tyr710His missense NM_001408424.1:c.2128T>C NP_001395353.1:p.Tyr710His missense NM_001408425.1:c.2125T>C NP_001395354.1:p.Tyr709His missense NM_001408426.1:c.2125T>C NP_001395355.1:p.Tyr709His missense NM_001408427.1:c.2125T>C NP_001395356.1:p.Tyr709His missense NM_001408428.1:c.2125T>C NP_001395357.1:p.Tyr709His missense NM_001408429.1:c.2125T>C NP_001395358.1:p.Tyr709His missense NM_001408430.1:c.2125T>C NP_001395359.1:p.Tyr709His missense NM_001408431.1:c.2125T>C NP_001395360.1:p.Tyr709His missense NM_001408432.1:c.2122T>C NP_001395361.1:p.Tyr708His missense NM_001408433.1:c.2122T>C NP_001395362.1:p.Tyr708His missense NM_001408434.1:c.2122T>C NP_001395363.1:p.Tyr708His missense NM_001408435.1:c.2122T>C NP_001395364.1:p.Tyr708His missense NM_001408436.1:c.2122T>C NP_001395365.1:p.Tyr708His missense NM_001408437.1:c.2122T>C NP_001395366.1:p.Tyr708His missense NM_001408438.1:c.2122T>C NP_001395367.1:p.Tyr708His missense NM_001408439.1:c.2122T>C NP_001395368.1:p.Tyr708His missense NM_001408440.1:c.2122T>C NP_001395369.1:p.Tyr708His missense NM_001408441.1:c.2122T>C NP_001395370.1:p.Tyr708His missense NM_001408442.1:c.2122T>C NP_001395371.1:p.Tyr708His missense NM_001408443.1:c.2122T>C NP_001395372.1:p.Tyr708His missense NM_001408444.1:c.2122T>C NP_001395373.1:p.Tyr708His missense NM_001408445.1:c.2119T>C NP_001395374.1:p.Tyr707His missense NM_001408446.1:c.2119T>C NP_001395375.1:p.Tyr707His missense NM_001408447.1:c.2119T>C NP_001395376.1:p.Tyr707His missense NM_001408448.1:c.2119T>C NP_001395377.1:p.Tyr707His missense NM_001408450.1:c.2119T>C NP_001395379.1:p.Tyr707His missense NM_001408451.1:c.2113T>C NP_001395380.1:p.Tyr705His missense NM_001408452.1:c.2107T>C NP_001395381.1:p.Tyr703His missense NM_001408453.1:c.2107T>C NP_001395382.1:p.Tyr703His missense NM_001408454.1:c.2107T>C NP_001395383.1:p.Tyr703His missense NM_001408455.1:c.2107T>C NP_001395384.1:p.Tyr703His missense NM_001408456.1:c.2107T>C NP_001395385.1:p.Tyr703His missense NM_001408457.1:c.2107T>C NP_001395386.1:p.Tyr703His missense NM_001408458.1:c.2104T>C NP_001395387.1:p.Tyr702His missense NM_001408459.1:c.2104T>C NP_001395388.1:p.Tyr702His missense NM_001408460.1:c.2104T>C NP_001395389.1:p.Tyr702His missense NM_001408461.1:c.2104T>C NP_001395390.1:p.Tyr702His missense NM_001408462.1:c.2104T>C NP_001395391.1:p.Tyr702His missense NM_001408463.1:c.2104T>C NP_001395392.1:p.Tyr702His missense NM_001408464.1:c.2104T>C NP_001395393.1:p.Tyr702His missense NM_001408465.1:c.2104T>C NP_001395394.1:p.Tyr702His missense NM_001408466.1:c.2104T>C NP_001395395.1:p.Tyr702His missense NM_001408467.1:c.2104T>C NP_001395396.1:p.Tyr702His missense NM_001408468.1:c.2101T>C NP_001395397.1:p.Tyr701His missense NM_001408469.1:c.2101T>C NP_001395398.1:p.Tyr701His missense NM_001408470.1:c.2101T>C NP_001395399.1:p.Tyr701His missense NM_001408472.1:c.*71T>C NM_001408473.1:c.*71T>C NM_001408474.1:c.2047T>C NP_001395403.1:p.Tyr683His missense NM_001408475.1:c.2044T>C NP_001395404.1:p.Tyr682His missense NM_001408476.1:c.2044T>C NP_001395405.1:p.Tyr682His missense NM_001408478.1:c.2038T>C NP_001395407.1:p.Tyr680His missense NM_001408479.1:c.2038T>C NP_001395408.1:p.Tyr680His missense NM_001408480.1:c.2038T>C NP_001395409.1:p.Tyr680His missense NM_001408481.1:c.2035T>C NP_001395410.1:p.Tyr679His missense NM_001408482.1:c.2035T>C NP_001395411.1:p.Tyr679His missense NM_001408483.1:c.2035T>C NP_001395412.1:p.Tyr679His missense NM_001408484.1:c.2035T>C NP_001395413.1:p.Tyr679His missense NM_001408485.1:c.2035T>C NP_001395414.1:p.Tyr679His missense NM_001408489.1:c.2035T>C NP_001395418.1:p.Tyr679His missense NM_001408490.1:c.2035T>C NP_001395419.1:p.Tyr679His missense NM_001408491.1:c.2035T>C NP_001395420.1:p.Tyr679His missense NM_001408492.1:c.2032T>C NP_001395421.1:p.Tyr678His missense NM_001408493.1:c.2032T>C NP_001395422.1:p.Tyr678His missense NM_001408494.1:c.2008T>C NP_001395423.1:p.Tyr670His missense NM_001408495.1:c.2002T>C NP_001395424.1:p.Tyr668His missense NM_001408496.1:c.1984T>C NP_001395425.1:p.Tyr662His missense NM_001408497.1:c.1984T>C NP_001395426.1:p.Tyr662His missense NM_001408498.1:c.1984T>C NP_001395427.1:p.Tyr662His missense NM_001408499.1:c.1984T>C NP_001395428.1:p.Tyr662His missense NM_001408500.1:c.1984T>C NP_001395429.1:p.Tyr662His missense NM_001408501.1:c.1984T>C NP_001395430.1:p.Tyr662His missense NM_001408502.1:c.1981T>C NP_001395431.1:p.Tyr661His missense NM_001408503.1:c.1981T>C NP_001395432.1:p.Tyr661His missense NM_001408504.1:c.1981T>C NP_001395433.1:p.Tyr661His missense NM_001408505.1:c.1978T>C NP_001395434.1:p.Tyr660His missense NM_001408506.1:c.1921T>C NP_001395435.1:p.Tyr641His missense NM_001408507.1:c.1918T>C NP_001395436.1:p.Tyr640His missense NM_001408508.1:c.1909T>C NP_001395437.1:p.Tyr637His missense NM_001408509.1:c.1906T>C NP_001395438.1:p.Tyr636His missense NM_001408510.1:c.1867T>C NP_001395439.1:p.Tyr623His missense NM_001408511.1:c.1864T>C NP_001395440.1:p.Tyr622His missense NM_001408512.1:c.1744T>C NP_001395441.1:p.Tyr582His missense NM_001408513.1:c.1717T>C NP_001395442.1:p.Tyr573His missense NM_001408514.1:c.1321T>C NP_001395443.1:p.Tyr441His missense NM_007297.4:c.5416T>C NP_009228.2:p.Tyr1806His missense NM_007298.4:c.2245T>C NP_009229.2:p.Tyr749His missense NM_007299.4:c.*71T>C 3 prime UTR NM_007300.4:c.5620T>C NP_009231.2:p.Tyr1874His missense NM_007304.2:c.2245T>C NP_009235.2:p.Tyr749His missense NR_027676.2:n.5734T>C non-coding transcript variant NC_000017.11:g.43045713A>G NC_000017.10:g.41197730A>G NG_005905.2:g.172271T>C LRG_292:g.172271T>C LRG_292t1:c.5557T>C LRG_292p1:p.Tyr1853His - Protein change
- Y1806H, Y1853H, Y1874H, Y749H, Y1684H, Y1765H, Y1784H, Y1810H, Y1825H, Y1827H, Y1873H, Y441H, Y670H, Y679H, Y724H, Y1726H, Y1741H, Y1783H, Y1785H, Y1809H, Y1811H, Y1826H, Y1852H, Y573H, Y582H, Y637H, Y641H, Y668H, Y682H, Y702H, Y708H, Y771H, Y984H, Y1724H, Y1740H, Y1764H, Y1769H, Y1781H, Y1786H, Y1804H, Y1805H, Y1834H, Y1848H, Y1851H, Y1875H, Y623H, Y636H, Y660H, Y680H, Y705H, Y709H, Y746H, Y747H, Y748H, Y1556H, Y1557H, Y1699H, Y1725H, Y1742H, Y1763H, Y1782H, Y1812H, Y1833H, Y1849H, Y1850H, Y622H, Y640H, Y661H, Y662H, Y678H, Y683H, Y701H, Y703H, Y707H, Y710H, Y711H, Y723H, Y725H, Y750H, Y772H, Y985H
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045712:A:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5557T>C, a MISSENSE variant, produced a function score of -1.65, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | - |
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. |
---|---|---|---|---|
not provided (1) |
no classification provided
|
- | RCV001072340.2 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Mar 29, 2021 | RCV001862798.6 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Mar 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002303624.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
Experimental studies have shown that this variant does not substantially affect BRCA1 protein function (PMID: 30209399). In summary, the currently available evidence indicates that the … (more)
Experimental studies have shown that this variant does not substantially affect BRCA1 protein function (PMID: 30209399). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Tyr1853 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29470806, 29176636, 30287823, 30374176). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 865014). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 1853 of the BRCA1 protein (p.Tyr1853His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. (less)
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001237702.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.6528829107851
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
---|---|---|---|---|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001237702.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5557T>C, a MISSENSE variant, produced a function score of -1.65, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5557T>C, a MISSENSE variant, produced a function score of -1.65, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance. | Tsai GJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30374176 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. | Singh J | Breast cancer research and treatment | 2018 | PMID: 29470806 |
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. | Arai M | Journal of human genetics | 2018 | PMID: 29176636 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2050860958 ...
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.