ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)
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.
Uncertain significance(3); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)
Variation ID: 482930 Accession: VCV000482930.17
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045732 (GRCh38) [ NCBI UCSC ] 17: 41197749 (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 Feb 19, 2018 Jun 17, 2024 Jan 19, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5538G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1846His missense NM_001407571.1:c.5325G>C NP_001394500.1:p.Gln1775His missense NM_001407581.1:c.5604G>C NP_001394510.1:p.Gln1868His missense NM_001407582.1:c.5604G>C NP_001394511.1:p.Gln1868His missense NM_001407583.1:c.5601G>C NP_001394512.1:p.Gln1867His missense NM_001407585.1:c.5601G>C NP_001394514.1:p.Gln1867His missense NM_001407587.1:c.5601G>C NP_001394516.1:p.Gln1867His missense NM_001407590.1:c.5598G>C NP_001394519.1:p.Gln1866His missense NM_001407591.1:c.5598G>C NP_001394520.1:p.Gln1866His missense NM_001407593.1:c.5538G>C NP_001394522.1:p.Gln1846His missense NM_001407594.1:c.5538G>C NP_001394523.1:p.Gln1846His missense NM_001407596.1:c.5538G>C NP_001394525.1:p.Gln1846His missense NM_001407597.1:c.5538G>C NP_001394526.1:p.Gln1846His missense NM_001407598.1:c.5538G>C NP_001394527.1:p.Gln1846His missense NM_001407602.1:c.5538G>C NP_001394531.1:p.Gln1846His missense NM_001407603.1:c.5538G>C NP_001394532.1:p.Gln1846His missense NM_001407605.1:c.5538G>C NP_001394534.1:p.Gln1846His missense NM_001407610.1:c.5535G>C NP_001394539.1:p.Gln1845His missense NM_001407611.1:c.5535G>C NP_001394540.1:p.Gln1845His missense NM_001407612.1:c.5535G>C NP_001394541.1:p.Gln1845His missense NM_001407613.1:c.5535G>C NP_001394542.1:p.Gln1845His missense NM_001407614.1:c.5535G>C NP_001394543.1:p.Gln1845His missense NM_001407615.1:c.5535G>C NP_001394544.1:p.Gln1845His missense NM_001407616.1:c.5535G>C NP_001394545.1:p.Gln1845His missense NM_001407617.1:c.5535G>C NP_001394546.1:p.Gln1845His missense NM_001407618.1:c.5535G>C NP_001394547.1:p.Gln1845His missense NM_001407619.1:c.5535G>C NP_001394548.1:p.Gln1845His missense NM_001407620.1:c.5535G>C NP_001394549.1:p.Gln1845His missense NM_001407621.1:c.5535G>C NP_001394550.1:p.Gln1845His missense NM_001407622.1:c.5535G>C NP_001394551.1:p.Gln1845His missense NM_001407623.1:c.5535G>C NP_001394552.1:p.Gln1845His missense NM_001407624.1:c.5535G>C NP_001394553.1:p.Gln1845His missense NM_001407625.1:c.5535G>C NP_001394554.1:p.Gln1845His missense NM_001407626.1:c.5535G>C NP_001394555.1:p.Gln1845His missense NM_001407627.1:c.5532G>C NP_001394556.1:p.Gln1844His missense NM_001407628.1:c.5532G>C NP_001394557.1:p.Gln1844His missense NM_001407629.1:c.5532G>C NP_001394558.1:p.Gln1844His missense NM_001407630.1:c.5532G>C NP_001394559.1:p.Gln1844His missense NM_001407631.1:c.5532G>C NP_001394560.1:p.Gln1844His missense NM_001407632.1:c.5532G>C NP_001394561.1:p.Gln1844His missense NM_001407633.1:c.5532G>C NP_001394562.1:p.Gln1844His missense NM_001407634.1:c.5532G>C NP_001394563.1:p.Gln1844His missense NM_001407635.1:c.5532G>C NP_001394564.1:p.Gln1844His missense NM_001407636.1:c.5532G>C NP_001394565.1:p.Gln1844His missense NM_001407637.1:c.5532G>C NP_001394566.1:p.Gln1844His missense NM_001407638.1:c.5532G>C NP_001394567.1:p.Gln1844His missense NM_001407639.1:c.5532G>C NP_001394568.1:p.Gln1844His missense NM_001407640.1:c.5532G>C NP_001394569.1:p.Gln1844His missense NM_001407641.1:c.5532G>C NP_001394570.1:p.Gln1844His missense NM_001407642.1:c.5532G>C NP_001394571.1:p.Gln1844His missense NM_001407644.1:c.5529G>C NP_001394573.1:p.Gln1843His missense NM_001407645.1:c.5529G>C NP_001394574.1:p.Gln1843His missense NM_001407646.1:c.5526G>C NP_001394575.1:p.Gln1842His missense NM_001407647.1:c.5523G>C NP_001394576.1:p.Gln1841His missense NM_001407648.1:c.5481G>C NP_001394577.1:p.Gln1827His missense NM_001407649.1:c.5478G>C NP_001394578.1:p.Gln1826His missense NM_001407652.1:c.5460G>C NP_001394581.1:p.Gln1820His missense NM_001407653.1:c.5460G>C NP_001394582.1:p.Gln1820His missense NM_001407654.1:c.5460G>C NP_001394583.1:p.Gln1820His missense NM_001407655.1:c.5460G>C NP_001394584.1:p.Gln1820His missense NM_001407656.1:c.5457G>C NP_001394585.1:p.Gln1819His missense NM_001407657.1:c.5457G>C NP_001394586.1:p.Gln1819His missense NM_001407658.1:c.5457G>C NP_001394587.1:p.Gln1819His missense NM_001407659.1:c.5454G>C NP_001394588.1:p.Gln1818His missense NM_001407660.1:c.5454G>C NP_001394589.1:p.Gln1818His missense NM_001407661.1:c.5454G>C NP_001394590.1:p.Gln1818His missense NM_001407662.1:c.5454G>C NP_001394591.1:p.Gln1818His missense NM_001407663.1:c.5454G>C NP_001394592.1:p.Gln1818His missense NM_001407664.1:c.5415G>C NP_001394593.1:p.Gln1805His missense NM_001407665.1:c.5415G>C NP_001394594.1:p.Gln1805His missense NM_001407666.1:c.5415G>C NP_001394595.1:p.Gln1805His missense NM_001407667.1:c.5415G>C NP_001394596.1:p.Gln1805His missense NM_001407668.1:c.5415G>C NP_001394597.1:p.Gln1805His missense NM_001407669.1:c.5415G>C NP_001394598.1:p.Gln1805His missense NM_001407670.1:c.5412G>C NP_001394599.1:p.Gln1804His missense NM_001407671.1:c.5412G>C NP_001394600.1:p.Gln1804His missense NM_001407672.1:c.5412G>C NP_001394601.1:p.Gln1804His missense NM_001407673.1:c.5412G>C NP_001394602.1:p.Gln1804His missense NM_001407674.1:c.5412G>C NP_001394603.1:p.Gln1804His missense NM_001407675.1:c.5412G>C NP_001394604.1:p.Gln1804His missense NM_001407676.1:c.5412G>C NP_001394605.1:p.Gln1804His missense NM_001407677.1:c.5412G>C NP_001394606.1:p.Gln1804His missense NM_001407678.1:c.5412G>C NP_001394607.1:p.Gln1804His missense NM_001407679.1:c.5412G>C NP_001394608.1:p.Gln1804His missense NM_001407680.1:c.5412G>C NP_001394609.1:p.Gln1804His missense NM_001407681.1:c.5409G>C NP_001394610.1:p.Gln1803His missense NM_001407682.1:c.5409G>C NP_001394611.1:p.Gln1803His missense NM_001407683.1:c.5409G>C NP_001394612.1:p.Gln1803His missense NM_001407684.1:c.5409G>C NP_001394613.1:p.Gln1803His missense NM_001407685.1:c.5409G>C NP_001394614.1:p.Gln1803His missense NM_001407686.1:c.5409G>C NP_001394615.1:p.Gln1803His missense NM_001407687.1:c.5409G>C NP_001394616.1:p.Gln1803His missense NM_001407688.1:c.5409G>C NP_001394617.1:p.Gln1803His missense NM_001407689.1:c.5409G>C NP_001394618.1:p.Gln1803His missense NM_001407690.1:c.5406G>C NP_001394619.1:p.Gln1802His missense NM_001407691.1:c.5406G>C NP_001394620.1:p.Gln1802His missense NM_001407692.1:c.5397G>C NP_001394621.1:p.Gln1799His missense NM_001407694.1:c.5397G>C NP_001394623.1:p.Gln1799His missense NM_001407695.1:c.5397G>C NP_001394624.1:p.Gln1799His missense NM_001407696.1:c.5397G>C NP_001394625.1:p.Gln1799His missense NM_001407697.1:c.5397G>C NP_001394626.1:p.Gln1799His missense NM_001407698.1:c.5397G>C NP_001394627.1:p.Gln1799His missense NM_001407724.1:c.5397G>C NP_001394653.1:p.Gln1799His missense NM_001407725.1:c.5397G>C NP_001394654.1:p.Gln1799His missense NM_001407726.1:c.5397G>C NP_001394655.1:p.Gln1799His missense NM_001407727.1:c.5397G>C NP_001394656.1:p.Gln1799His missense NM_001407728.1:c.5397G>C NP_001394657.1:p.Gln1799His missense NM_001407729.1:c.5397G>C NP_001394658.1:p.Gln1799His missense NM_001407730.1:c.5397G>C NP_001394659.1:p.Gln1799His missense NM_001407731.1:c.5397G>C NP_001394660.1:p.Gln1799His missense NM_001407732.1:c.5394G>C NP_001394661.1:p.Gln1798His missense NM_001407733.1:c.5394G>C NP_001394662.1:p.Gln1798His missense NM_001407734.1:c.5394G>C NP_001394663.1:p.Gln1798His missense NM_001407735.1:c.5394G>C NP_001394664.1:p.Gln1798His missense NM_001407736.1:c.5394G>C NP_001394665.1:p.Gln1798His missense NM_001407737.1:c.5394G>C NP_001394666.1:p.Gln1798His missense NM_001407738.1:c.5394G>C NP_001394667.1:p.Gln1798His missense NM_001407739.1:c.5394G>C NP_001394668.1:p.Gln1798His missense NM_001407740.1:c.5394G>C NP_001394669.1:p.Gln1798His missense NM_001407741.1:c.5394G>C NP_001394670.1:p.Gln1798His missense NM_001407742.1:c.5394G>C NP_001394671.1:p.Gln1798His missense NM_001407743.1:c.5394G>C NP_001394672.1:p.Gln1798His missense NM_001407744.1:c.5394G>C NP_001394673.1:p.Gln1798His missense NM_001407745.1:c.5394G>C NP_001394674.1:p.Gln1798His missense NM_001407746.1:c.5394G>C NP_001394675.1:p.Gln1798His missense NM_001407747.1:c.5394G>C NP_001394676.1:p.Gln1798His missense NM_001407748.1:c.5394G>C NP_001394677.1:p.Gln1798His missense NM_001407749.1:c.5394G>C NP_001394678.1:p.Gln1798His missense NM_001407750.1:c.5394G>C NP_001394679.1:p.Gln1798His missense NM_001407751.1:c.5394G>C NP_001394680.1:p.Gln1798His missense NM_001407752.1:c.5394G>C NP_001394681.1:p.Gln1798His missense NM_001407838.1:c.5391G>C NP_001394767.1:p.Gln1797His missense NM_001407839.1:c.5391G>C NP_001394768.1:p.Gln1797His missense NM_001407841.1:c.5391G>C NP_001394770.1:p.Gln1797His missense NM_001407842.1:c.5391G>C NP_001394771.1:p.Gln1797His missense NM_001407843.1:c.5391G>C NP_001394772.1:p.Gln1797His missense NM_001407844.1:c.5391G>C NP_001394773.1:p.Gln1797His missense NM_001407845.1:c.5391G>C NP_001394774.1:p.Gln1797His missense NM_001407846.1:c.5391G>C NP_001394775.1:p.Gln1797His missense NM_001407847.1:c.5391G>C NP_001394776.1:p.Gln1797His missense NM_001407848.1:c.5391G>C NP_001394777.1:p.Gln1797His missense NM_001407849.1:c.5391G>C NP_001394778.1:p.Gln1797His missense NM_001407850.1:c.5391G>C NP_001394779.1:p.Gln1797His missense NM_001407851.1:c.5391G>C NP_001394780.1:p.Gln1797His missense NM_001407852.1:c.5391G>C NP_001394781.1:p.Gln1797His missense NM_001407853.1:c.5391G>C NP_001394782.1:p.Gln1797His missense NM_001407854.1:c.*52G>C NM_001407858.1:c.*52G>C NM_001407859.1:c.*52G>C NM_001407860.1:c.*52G>C NM_001407861.1:c.*52G>C NM_001407862.1:c.5337G>C NP_001394791.1:p.Gln1779His missense NM_001407863.1:c.5334G>C NP_001394792.1:p.Gln1778His missense NM_001407874.1:c.5331G>C NP_001394803.1:p.Gln1777His missense NM_001407875.1:c.5331G>C NP_001394804.1:p.Gln1777His missense NM_001407879.1:c.5328G>C NP_001394808.1:p.Gln1776His missense NM_001407881.1:c.5328G>C NP_001394810.1:p.Gln1776His missense NM_001407882.1:c.5328G>C NP_001394811.1:p.Gln1776His missense NM_001407884.1:c.5328G>C NP_001394813.1:p.Gln1776His missense NM_001407885.1:c.5328G>C NP_001394814.1:p.Gln1776His missense NM_001407886.1:c.5328G>C NP_001394815.1:p.Gln1776His missense NM_001407887.1:c.5328G>C NP_001394816.1:p.Gln1776His missense NM_001407889.1:c.5328G>C NP_001394818.1:p.Gln1776His missense NM_001407894.1:c.5325G>C NP_001394823.1:p.Gln1775His missense NM_001407895.1:c.5325G>C NP_001394824.1:p.Gln1775His missense NM_001407896.1:c.5325G>C NP_001394825.1:p.Gln1775His missense NM_001407897.1:c.5325G>C NP_001394826.1:p.Gln1775His missense NM_001407898.1:c.5325G>C NP_001394827.1:p.Gln1775His missense NM_001407899.1:c.5325G>C NP_001394828.1:p.Gln1775His missense NM_001407900.1:c.5325G>C NP_001394829.1:p.Gln1775His missense NM_001407902.1:c.5325G>C NP_001394831.1:p.Gln1775His missense NM_001407904.1:c.5325G>C NP_001394833.1:p.Gln1775His missense NM_001407906.1:c.5325G>C NP_001394835.1:p.Gln1775His missense NM_001407907.1:c.5325G>C NP_001394836.1:p.Gln1775His missense NM_001407908.1:c.5325G>C NP_001394837.1:p.Gln1775His missense NM_001407909.1:c.5325G>C NP_001394838.1:p.Gln1775His missense NM_001407910.1:c.5325G>C NP_001394839.1:p.Gln1775His missense NM_001407915.1:c.5322G>C NP_001394844.1:p.Gln1774His missense NM_001407916.1:c.5322G>C NP_001394845.1:p.Gln1774His missense NM_001407917.1:c.5322G>C NP_001394846.1:p.Gln1774His missense NM_001407918.1:c.5322G>C NP_001394847.1:p.Gln1774His missense NM_001407919.1:c.5286G>C NP_001394848.1:p.Gln1762His missense NM_001407920.1:c.5274G>C NP_001394849.1:p.Gln1758His missense NM_001407921.1:c.5274G>C NP_001394850.1:p.Gln1758His missense NM_001407922.1:c.5274G>C NP_001394851.1:p.Gln1758His missense NM_001407923.1:c.5274G>C NP_001394852.1:p.Gln1758His missense NM_001407924.1:c.5274G>C NP_001394853.1:p.Gln1758His missense NM_001407925.1:c.5274G>C NP_001394854.1:p.Gln1758His missense NM_001407926.1:c.5274G>C NP_001394855.1:p.Gln1758His missense NM_001407927.1:c.5271G>C NP_001394856.1:p.Gln1757His missense NM_001407928.1:c.5271G>C NP_001394857.1:p.Gln1757His missense NM_001407929.1:c.5271G>C NP_001394858.1:p.Gln1757His missense NM_001407930.1:c.5271G>C NP_001394859.1:p.Gln1757His missense NM_001407931.1:c.5271G>C NP_001394860.1:p.Gln1757His missense NM_001407932.1:c.5271G>C NP_001394861.1:p.Gln1757His missense NM_001407933.1:c.5271G>C NP_001394862.1:p.Gln1757His missense NM_001407934.1:c.5268G>C NP_001394863.1:p.Gln1756His missense NM_001407935.1:c.5268G>C NP_001394864.1:p.Gln1756His missense NM_001407936.1:c.5268G>C NP_001394865.1:p.Gln1756His missense NM_001407937.1:c.*52G>C NM_001407938.1:c.*52G>C NM_001407939.1:c.*52G>C NM_001407940.1:c.*52G>C NM_001407941.1:c.*52G>C NM_001407942.1:c.*52G>C NM_001407943.1:c.*52G>C NM_001407944.1:c.*52G>C NM_001407945.1:c.*52G>C NM_001407946.1:c.5205G>C NP_001394875.1:p.Gln1735His missense NM_001407947.1:c.5205G>C NP_001394876.1:p.Gln1735His missense NM_001407948.1:c.5205G>C NP_001394877.1:p.Gln1735His missense NM_001407949.1:c.5205G>C NP_001394878.1:p.Gln1735His missense NM_001407950.1:c.5202G>C NP_001394879.1:p.Gln1734His missense NM_001407951.1:c.5202G>C NP_001394880.1:p.Gln1734His missense NM_001407952.1:c.5202G>C NP_001394881.1:p.Gln1734His missense NM_001407953.1:c.5202G>C NP_001394882.1:p.Gln1734His missense NM_001407954.1:c.5202G>C NP_001394883.1:p.Gln1734His missense NM_001407955.1:c.5202G>C NP_001394884.1:p.Gln1734His missense NM_001407956.1:c.5199G>C NP_001394885.1:p.Gln1733His missense NM_001407957.1:c.5199G>C NP_001394886.1:p.Gln1733His missense NM_001407958.1:c.5199G>C NP_001394887.1:p.Gln1733His missense NM_001407959.1:c.5157G>C NP_001394888.1:p.Gln1719His missense NM_001407960.1:c.5154G>C NP_001394889.1:p.Gln1718His missense NM_001407962.1:c.5154G>C NP_001394891.1:p.Gln1718His missense NM_001407963.1:c.5151G>C NP_001394892.1:p.Gln1717His missense NM_001407964.1:c.5076G>C NP_001394893.1:p.Gln1692His missense NM_001407965.1:c.5031G>C NP_001394894.1:p.Gln1677His missense NM_001407966.1:c.4650G>C NP_001394895.1:p.Gln1550His missense NM_001407967.1:c.4647G>C NP_001394896.1:p.Gln1549His missense NM_001407968.1:c.2934G>C NP_001394897.1:p.Gln978His missense NM_001407969.1:c.2931G>C NP_001394898.1:p.Gln977His missense NM_001407970.1:c.2295G>C NP_001394899.1:p.Gln765His missense NM_001407971.1:c.2295G>C NP_001394900.1:p.Gln765His missense NM_001407972.1:c.2292G>C NP_001394901.1:p.Gln764His missense NM_001407973.1:c.2229G>C NP_001394902.1:p.Gln743His missense NM_001407974.1:c.2229G>C NP_001394903.1:p.Gln743His missense NM_001407975.1:c.2229G>C NP_001394904.1:p.Gln743His missense NM_001407976.1:c.2229G>C NP_001394905.1:p.Gln743His missense NM_001407977.1:c.2229G>C NP_001394906.1:p.Gln743His missense NM_001407978.1:c.2229G>C NP_001394907.1:p.Gln743His missense NM_001407979.1:c.2226G>C NP_001394908.1:p.Gln742His missense NM_001407980.1:c.2226G>C NP_001394909.1:p.Gln742His missense NM_001407981.1:c.2226G>C NP_001394910.1:p.Gln742His missense NM_001407982.1:c.2226G>C NP_001394911.1:p.Gln742His missense NM_001407983.1:c.2226G>C NP_001394912.1:p.Gln742His missense NM_001407984.1:c.2226G>C NP_001394913.1:p.Gln742His missense NM_001407985.1:c.2226G>C NP_001394914.1:p.Gln742His missense NM_001407986.1:c.2226G>C NP_001394915.1:p.Gln742His missense NM_001407990.1:c.2226G>C NP_001394919.1:p.Gln742His missense NM_001407991.1:c.2226G>C NP_001394920.1:p.Gln742His missense NM_001407992.1:c.2226G>C NP_001394921.1:p.Gln742His missense NM_001407993.1:c.2226G>C NP_001394922.1:p.Gln742His missense NM_001408392.1:c.2223G>C NP_001395321.1:p.Gln741His missense NM_001408396.1:c.2223G>C NP_001395325.1:p.Gln741His missense NM_001408397.1:c.2223G>C NP_001395326.1:p.Gln741His missense NM_001408398.1:c.2223G>C NP_001395327.1:p.Gln741His missense NM_001408399.1:c.2223G>C NP_001395328.1:p.Gln741His missense NM_001408400.1:c.2223G>C NP_001395329.1:p.Gln741His missense NM_001408401.1:c.2223G>C NP_001395330.1:p.Gln741His missense NM_001408402.1:c.2223G>C NP_001395331.1:p.Gln741His missense NM_001408403.1:c.2223G>C NP_001395332.1:p.Gln741His missense NM_001408404.1:c.2223G>C NP_001395333.1:p.Gln741His missense NM_001408406.1:c.2220G>C NP_001395335.1:p.Gln740His missense NM_001408407.1:c.2220G>C NP_001395336.1:p.Gln740His missense NM_001408408.1:c.2220G>C NP_001395337.1:p.Gln740His missense NM_001408409.1:c.2217G>C NP_001395338.1:p.Gln739His missense NM_001408410.1:c.2154G>C NP_001395339.1:p.Gln718His missense NM_001408411.1:c.2151G>C NP_001395340.1:p.Gln717His missense NM_001408412.1:c.2148G>C NP_001395341.1:p.Gln716His missense NM_001408413.1:c.2148G>C NP_001395342.1:p.Gln716His missense NM_001408414.1:c.2148G>C NP_001395343.1:p.Gln716His missense NM_001408415.1:c.2148G>C NP_001395344.1:p.Gln716His missense NM_001408416.1:c.2148G>C NP_001395345.1:p.Gln716His missense NM_001408418.1:c.2112G>C NP_001395347.1:p.Gln704His missense NM_001408419.1:c.2112G>C NP_001395348.1:p.Gln704His missense NM_001408420.1:c.2112G>C NP_001395349.1:p.Gln704His missense NM_001408421.1:c.2109G>C NP_001395350.1:p.Gln703His missense NM_001408422.1:c.2109G>C NP_001395351.1:p.Gln703His missense NM_001408423.1:c.2109G>C NP_001395352.1:p.Gln703His missense NM_001408424.1:c.2109G>C NP_001395353.1:p.Gln703His missense NM_001408425.1:c.2106G>C NP_001395354.1:p.Gln702His missense NM_001408426.1:c.2106G>C NP_001395355.1:p.Gln702His missense NM_001408427.1:c.2106G>C NP_001395356.1:p.Gln702His missense NM_001408428.1:c.2106G>C NP_001395357.1:p.Gln702His missense NM_001408429.1:c.2106G>C NP_001395358.1:p.Gln702His missense NM_001408430.1:c.2106G>C NP_001395359.1:p.Gln702His missense NM_001408431.1:c.2106G>C NP_001395360.1:p.Gln702His missense NM_001408432.1:c.2103G>C NP_001395361.1:p.Gln701His missense NM_001408433.1:c.2103G>C NP_001395362.1:p.Gln701His missense NM_001408434.1:c.2103G>C NP_001395363.1:p.Gln701His missense NM_001408435.1:c.2103G>C NP_001395364.1:p.Gln701His missense NM_001408436.1:c.2103G>C NP_001395365.1:p.Gln701His missense NM_001408437.1:c.2103G>C NP_001395366.1:p.Gln701His missense NM_001408438.1:c.2103G>C NP_001395367.1:p.Gln701His missense NM_001408439.1:c.2103G>C NP_001395368.1:p.Gln701His missense NM_001408440.1:c.2103G>C NP_001395369.1:p.Gln701His missense NM_001408441.1:c.2103G>C NP_001395370.1:p.Gln701His missense NM_001408442.1:c.2103G>C NP_001395371.1:p.Gln701His missense NM_001408443.1:c.2103G>C NP_001395372.1:p.Gln701His missense NM_001408444.1:c.2103G>C NP_001395373.1:p.Gln701His missense NM_001408445.1:c.2100G>C NP_001395374.1:p.Gln700His missense NM_001408446.1:c.2100G>C NP_001395375.1:p.Gln700His missense NM_001408447.1:c.2100G>C NP_001395376.1:p.Gln700His missense NM_001408448.1:c.2100G>C NP_001395377.1:p.Gln700His missense NM_001408450.1:c.2100G>C NP_001395379.1:p.Gln700His missense NM_001408451.1:c.2094G>C NP_001395380.1:p.Gln698His missense NM_001408452.1:c.2088G>C NP_001395381.1:p.Gln696His missense NM_001408453.1:c.2088G>C NP_001395382.1:p.Gln696His missense NM_001408454.1:c.2088G>C NP_001395383.1:p.Gln696His missense NM_001408455.1:c.2088G>C NP_001395384.1:p.Gln696His missense NM_001408456.1:c.2088G>C NP_001395385.1:p.Gln696His missense NM_001408457.1:c.2088G>C NP_001395386.1:p.Gln696His missense NM_001408458.1:c.2085G>C NP_001395387.1:p.Gln695His missense NM_001408459.1:c.2085G>C NP_001395388.1:p.Gln695His missense NM_001408460.1:c.2085G>C NP_001395389.1:p.Gln695His missense NM_001408461.1:c.2085G>C NP_001395390.1:p.Gln695His missense NM_001408462.1:c.2085G>C NP_001395391.1:p.Gln695His missense NM_001408463.1:c.2085G>C NP_001395392.1:p.Gln695His missense NM_001408464.1:c.2085G>C NP_001395393.1:p.Gln695His missense NM_001408465.1:c.2085G>C NP_001395394.1:p.Gln695His missense NM_001408466.1:c.2085G>C NP_001395395.1:p.Gln695His missense NM_001408467.1:c.2085G>C NP_001395396.1:p.Gln695His missense NM_001408468.1:c.2082G>C NP_001395397.1:p.Gln694His missense NM_001408469.1:c.2082G>C NP_001395398.1:p.Gln694His missense NM_001408470.1:c.2082G>C NP_001395399.1:p.Gln694His missense NM_001408472.1:c.*52G>C NM_001408473.1:c.*52G>C NM_001408474.1:c.2028G>C NP_001395403.1:p.Gln676His missense NM_001408475.1:c.2025G>C NP_001395404.1:p.Gln675His missense NM_001408476.1:c.2025G>C NP_001395405.1:p.Gln675His missense NM_001408478.1:c.2019G>C NP_001395407.1:p.Gln673His missense NM_001408479.1:c.2019G>C NP_001395408.1:p.Gln673His missense NM_001408480.1:c.2019G>C NP_001395409.1:p.Gln673His missense NM_001408481.1:c.2016G>C NP_001395410.1:p.Gln672His missense NM_001408482.1:c.2016G>C NP_001395411.1:p.Gln672His missense NM_001408483.1:c.2016G>C NP_001395412.1:p.Gln672His missense NM_001408484.1:c.2016G>C NP_001395413.1:p.Gln672His missense NM_001408485.1:c.2016G>C NP_001395414.1:p.Gln672His missense NM_001408489.1:c.2016G>C NP_001395418.1:p.Gln672His missense NM_001408490.1:c.2016G>C NP_001395419.1:p.Gln672His missense NM_001408491.1:c.2016G>C NP_001395420.1:p.Gln672His missense NM_001408492.1:c.2013G>C NP_001395421.1:p.Gln671His missense NM_001408493.1:c.2013G>C NP_001395422.1:p.Gln671His missense NM_001408494.1:c.1989G>C NP_001395423.1:p.Gln663His missense NM_001408495.1:c.1983G>C NP_001395424.1:p.Gln661His missense NM_001408496.1:c.1965G>C NP_001395425.1:p.Gln655His missense NM_001408497.1:c.1965G>C NP_001395426.1:p.Gln655His missense NM_001408498.1:c.1965G>C NP_001395427.1:p.Gln655His missense NM_001408499.1:c.1965G>C NP_001395428.1:p.Gln655His missense NM_001408500.1:c.1965G>C NP_001395429.1:p.Gln655His missense NM_001408501.1:c.1965G>C NP_001395430.1:p.Gln655His missense NM_001408502.1:c.1962G>C NP_001395431.1:p.Gln654His missense NM_001408503.1:c.1962G>C NP_001395432.1:p.Gln654His missense NM_001408504.1:c.1962G>C NP_001395433.1:p.Gln654His missense NM_001408505.1:c.1959G>C NP_001395434.1:p.Gln653His missense NM_001408506.1:c.1902G>C NP_001395435.1:p.Gln634His missense NM_001408507.1:c.1899G>C NP_001395436.1:p.Gln633His missense NM_001408508.1:c.1890G>C NP_001395437.1:p.Gln630His missense NM_001408509.1:c.1887G>C NP_001395438.1:p.Gln629His missense NM_001408510.1:c.1848G>C NP_001395439.1:p.Gln616His missense NM_001408511.1:c.1845G>C NP_001395440.1:p.Gln615His missense NM_001408512.1:c.1725G>C NP_001395441.1:p.Gln575His missense NM_001408513.1:c.1698G>C NP_001395442.1:p.Gln566His missense NM_001408514.1:c.1302G>C NP_001395443.1:p.Gln434His missense NM_007297.4:c.5397G>C NP_009228.2:p.Gln1799His missense NM_007298.4:c.2226G>C NP_009229.2:p.Gln742His missense NM_007299.4:c.*52G>C 3 prime UTR NM_007300.4:c.5601G>C NP_009231.2:p.Gln1867His missense NM_007304.2:c.2226G>C NP_009235.2:p.Gln742His missense NR_027676.2:n.5715G>C non-coding transcript variant NC_000017.11:g.43045732C>G NC_000017.10:g.41197749C>G NG_005905.2:g.172252G>C LRG_292:g.172252G>C LRG_292t1:c.5538G>C LRG_292p1:p.Gln1846His - Protein change
- Q1846H, Q1867H, Q742H, Q1799H, Q1692H, Q1718H, Q1756H, Q1776H, Q1777H, Q1803H, Q1804H, Q1842H, Q1866H, Q1868H, Q566H, Q616H, Q630H, Q653H, Q661H, Q672H, Q694H, Q702H, Q716H, Q718H, Q743H, Q764H, Q978H, Q1549H, Q1677H, Q1719H, Q1758H, Q1774H, Q1778H, Q1779H, Q1797H, Q1805H, Q1818H, Q1820H, Q1841H, Q1844H, Q1845H, Q575H, Q633H, Q654H, Q663H, Q675H, Q701H, Q741H, Q1733H, Q1734H, Q1735H, Q1762H, Q1819H, Q1826H, Q1827H, Q1843H, Q634H, Q655H, Q696H, Q698H, Q700H, Q1550H, Q1717H, Q1757H, Q1775H, Q1798H, Q1802H, Q434H, Q615H, Q629H, Q671H, Q673H, Q676H, Q695H, Q703H, Q704H, Q717H, Q739H, Q740H, Q765H, Q977H
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045731:C:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_normal Sequence Ontology [SO:0002219]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5538G>C, a MISSENSE variant, produced a function score of -0.27, corresponding to a functional classification of FUNCTIONAL. 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.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
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 |
13029 | 14833 |
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. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jan 14, 2022 | RCV000569232.9 | |
Uncertain significance (2) |
criteria provided, single submitter
|
Jan 19, 2024 | RCV001076369.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 8, 2023 | RCV001858257.7 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Jan 18, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683334.3
First in ClinVar: Feb 19, 2018 Last updated: Mar 25, 2020 |
|
|
Uncertain significance
(Sep 08, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002248522.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1846 of the BRCA1 protein (p.Gln1846His). … (more)
This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1846 of the BRCA1 protein (p.Gln1846His). This variant is present in population databases (rs80356849, gnomAD 0.007%). 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: 482930). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Likely benign
(Jan 14, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000668462.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Uncertain significance
(Jan 19, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV005058269.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
|
|
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: SCV001242105.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.273650343656531
|
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
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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. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242105.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5538G>C, a MISSENSE variant, produced a function score of -0.27, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5538G>C, a MISSENSE variant, produced a function score of -0.27, corresponding to a functional classification of FUNCTIONAL. 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)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs80356849 ...
HelpRecord last updated Oct 08, 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.