ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5543A>C (p.Gln1848Pro)
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.5543A>C (p.Gln1848Pro)
Variation ID: 868640 Accession: VCV000868640.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045727 (GRCh38) [ NCBI UCSC ] 17: 41197744 (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 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5543A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1848Pro missense NM_001407571.1:c.5330A>C NP_001394500.1:p.Gln1777Pro missense NM_001407581.1:c.5609A>C NP_001394510.1:p.Gln1870Pro missense NM_001407582.1:c.5609A>C NP_001394511.1:p.Gln1870Pro missense NM_001407583.1:c.5606A>C NP_001394512.1:p.Gln1869Pro missense NM_001407585.1:c.5606A>C NP_001394514.1:p.Gln1869Pro missense NM_001407587.1:c.5606A>C NP_001394516.1:p.Gln1869Pro missense NM_001407590.1:c.5603A>C NP_001394519.1:p.Gln1868Pro missense NM_001407591.1:c.5603A>C NP_001394520.1:p.Gln1868Pro missense NM_001407593.1:c.5543A>C NP_001394522.1:p.Gln1848Pro missense NM_001407594.1:c.5543A>C NP_001394523.1:p.Gln1848Pro missense NM_001407596.1:c.5543A>C NP_001394525.1:p.Gln1848Pro missense NM_001407597.1:c.5543A>C NP_001394526.1:p.Gln1848Pro missense NM_001407598.1:c.5543A>C NP_001394527.1:p.Gln1848Pro missense NM_001407602.1:c.5543A>C NP_001394531.1:p.Gln1848Pro missense NM_001407603.1:c.5543A>C NP_001394532.1:p.Gln1848Pro missense NM_001407605.1:c.5543A>C NP_001394534.1:p.Gln1848Pro missense NM_001407610.1:c.5540A>C NP_001394539.1:p.Gln1847Pro missense NM_001407611.1:c.5540A>C NP_001394540.1:p.Gln1847Pro missense NM_001407612.1:c.5540A>C NP_001394541.1:p.Gln1847Pro missense NM_001407613.1:c.5540A>C NP_001394542.1:p.Gln1847Pro missense NM_001407614.1:c.5540A>C NP_001394543.1:p.Gln1847Pro missense NM_001407615.1:c.5540A>C NP_001394544.1:p.Gln1847Pro missense NM_001407616.1:c.5540A>C NP_001394545.1:p.Gln1847Pro missense NM_001407617.1:c.5540A>C NP_001394546.1:p.Gln1847Pro missense NM_001407618.1:c.5540A>C NP_001394547.1:p.Gln1847Pro missense NM_001407619.1:c.5540A>C NP_001394548.1:p.Gln1847Pro missense NM_001407620.1:c.5540A>C NP_001394549.1:p.Gln1847Pro missense NM_001407621.1:c.5540A>C NP_001394550.1:p.Gln1847Pro missense NM_001407622.1:c.5540A>C NP_001394551.1:p.Gln1847Pro missense NM_001407623.1:c.5540A>C NP_001394552.1:p.Gln1847Pro missense NM_001407624.1:c.5540A>C NP_001394553.1:p.Gln1847Pro missense NM_001407625.1:c.5540A>C NP_001394554.1:p.Gln1847Pro missense NM_001407626.1:c.5540A>C NP_001394555.1:p.Gln1847Pro missense NM_001407627.1:c.5537A>C NP_001394556.1:p.Gln1846Pro missense NM_001407628.1:c.5537A>C NP_001394557.1:p.Gln1846Pro missense NM_001407629.1:c.5537A>C NP_001394558.1:p.Gln1846Pro missense NM_001407630.1:c.5537A>C NP_001394559.1:p.Gln1846Pro missense NM_001407631.1:c.5537A>C NP_001394560.1:p.Gln1846Pro missense NM_001407632.1:c.5537A>C NP_001394561.1:p.Gln1846Pro missense NM_001407633.1:c.5537A>C NP_001394562.1:p.Gln1846Pro missense NM_001407634.1:c.5537A>C NP_001394563.1:p.Gln1846Pro missense NM_001407635.1:c.5537A>C NP_001394564.1:p.Gln1846Pro missense NM_001407636.1:c.5537A>C NP_001394565.1:p.Gln1846Pro missense NM_001407637.1:c.5537A>C NP_001394566.1:p.Gln1846Pro missense NM_001407638.1:c.5537A>C NP_001394567.1:p.Gln1846Pro missense NM_001407639.1:c.5537A>C NP_001394568.1:p.Gln1846Pro missense NM_001407640.1:c.5537A>C NP_001394569.1:p.Gln1846Pro missense NM_001407641.1:c.5537A>C NP_001394570.1:p.Gln1846Pro missense NM_001407642.1:c.5537A>C NP_001394571.1:p.Gln1846Pro missense NM_001407644.1:c.5534A>C NP_001394573.1:p.Gln1845Pro missense NM_001407645.1:c.5534A>C NP_001394574.1:p.Gln1845Pro missense NM_001407646.1:c.5531A>C NP_001394575.1:p.Gln1844Pro missense NM_001407647.1:c.5528A>C NP_001394576.1:p.Gln1843Pro missense NM_001407648.1:c.5486A>C NP_001394577.1:p.Gln1829Pro missense NM_001407649.1:c.5483A>C NP_001394578.1:p.Gln1828Pro missense NM_001407652.1:c.5465A>C NP_001394581.1:p.Gln1822Pro missense NM_001407653.1:c.5465A>C NP_001394582.1:p.Gln1822Pro missense NM_001407654.1:c.5465A>C NP_001394583.1:p.Gln1822Pro missense NM_001407655.1:c.5465A>C NP_001394584.1:p.Gln1822Pro missense NM_001407656.1:c.5462A>C NP_001394585.1:p.Gln1821Pro missense NM_001407657.1:c.5462A>C NP_001394586.1:p.Gln1821Pro missense NM_001407658.1:c.5462A>C NP_001394587.1:p.Gln1821Pro missense NM_001407659.1:c.5459A>C NP_001394588.1:p.Gln1820Pro missense NM_001407660.1:c.5459A>C NP_001394589.1:p.Gln1820Pro missense NM_001407661.1:c.5459A>C NP_001394590.1:p.Gln1820Pro missense NM_001407662.1:c.5459A>C NP_001394591.1:p.Gln1820Pro missense NM_001407663.1:c.5459A>C NP_001394592.1:p.Gln1820Pro missense NM_001407664.1:c.5420A>C NP_001394593.1:p.Gln1807Pro missense NM_001407665.1:c.5420A>C NP_001394594.1:p.Gln1807Pro missense NM_001407666.1:c.5420A>C NP_001394595.1:p.Gln1807Pro missense NM_001407667.1:c.5420A>C NP_001394596.1:p.Gln1807Pro missense NM_001407668.1:c.5420A>C NP_001394597.1:p.Gln1807Pro missense NM_001407669.1:c.5420A>C NP_001394598.1:p.Gln1807Pro missense NM_001407670.1:c.5417A>C NP_001394599.1:p.Gln1806Pro missense NM_001407671.1:c.5417A>C NP_001394600.1:p.Gln1806Pro missense NM_001407672.1:c.5417A>C NP_001394601.1:p.Gln1806Pro missense NM_001407673.1:c.5417A>C NP_001394602.1:p.Gln1806Pro missense NM_001407674.1:c.5417A>C NP_001394603.1:p.Gln1806Pro missense NM_001407675.1:c.5417A>C NP_001394604.1:p.Gln1806Pro missense NM_001407676.1:c.5417A>C NP_001394605.1:p.Gln1806Pro missense NM_001407677.1:c.5417A>C NP_001394606.1:p.Gln1806Pro missense NM_001407678.1:c.5417A>C NP_001394607.1:p.Gln1806Pro missense NM_001407679.1:c.5417A>C NP_001394608.1:p.Gln1806Pro missense NM_001407680.1:c.5417A>C NP_001394609.1:p.Gln1806Pro missense NM_001407681.1:c.5414A>C NP_001394610.1:p.Gln1805Pro missense NM_001407682.1:c.5414A>C NP_001394611.1:p.Gln1805Pro missense NM_001407683.1:c.5414A>C NP_001394612.1:p.Gln1805Pro missense NM_001407684.1:c.5414A>C NP_001394613.1:p.Gln1805Pro missense NM_001407685.1:c.5414A>C NP_001394614.1:p.Gln1805Pro missense NM_001407686.1:c.5414A>C NP_001394615.1:p.Gln1805Pro missense NM_001407687.1:c.5414A>C NP_001394616.1:p.Gln1805Pro missense NM_001407688.1:c.5414A>C NP_001394617.1:p.Gln1805Pro missense NM_001407689.1:c.5414A>C NP_001394618.1:p.Gln1805Pro missense NM_001407690.1:c.5411A>C NP_001394619.1:p.Gln1804Pro missense NM_001407691.1:c.5411A>C NP_001394620.1:p.Gln1804Pro missense NM_001407692.1:c.5402A>C NP_001394621.1:p.Gln1801Pro missense NM_001407694.1:c.5402A>C NP_001394623.1:p.Gln1801Pro missense NM_001407695.1:c.5402A>C NP_001394624.1:p.Gln1801Pro missense NM_001407696.1:c.5402A>C NP_001394625.1:p.Gln1801Pro missense NM_001407697.1:c.5402A>C NP_001394626.1:p.Gln1801Pro missense NM_001407698.1:c.5402A>C NP_001394627.1:p.Gln1801Pro missense NM_001407724.1:c.5402A>C NP_001394653.1:p.Gln1801Pro missense NM_001407725.1:c.5402A>C NP_001394654.1:p.Gln1801Pro missense NM_001407726.1:c.5402A>C NP_001394655.1:p.Gln1801Pro missense NM_001407727.1:c.5402A>C NP_001394656.1:p.Gln1801Pro missense NM_001407728.1:c.5402A>C NP_001394657.1:p.Gln1801Pro missense NM_001407729.1:c.5402A>C NP_001394658.1:p.Gln1801Pro missense NM_001407730.1:c.5402A>C NP_001394659.1:p.Gln1801Pro missense NM_001407731.1:c.5402A>C NP_001394660.1:p.Gln1801Pro missense NM_001407732.1:c.5399A>C NP_001394661.1:p.Gln1800Pro missense NM_001407733.1:c.5399A>C NP_001394662.1:p.Gln1800Pro missense NM_001407734.1:c.5399A>C NP_001394663.1:p.Gln1800Pro missense NM_001407735.1:c.5399A>C NP_001394664.1:p.Gln1800Pro missense NM_001407736.1:c.5399A>C NP_001394665.1:p.Gln1800Pro missense NM_001407737.1:c.5399A>C NP_001394666.1:p.Gln1800Pro missense NM_001407738.1:c.5399A>C NP_001394667.1:p.Gln1800Pro missense NM_001407739.1:c.5399A>C NP_001394668.1:p.Gln1800Pro missense NM_001407740.1:c.5399A>C NP_001394669.1:p.Gln1800Pro missense NM_001407741.1:c.5399A>C NP_001394670.1:p.Gln1800Pro missense NM_001407742.1:c.5399A>C NP_001394671.1:p.Gln1800Pro missense NM_001407743.1:c.5399A>C NP_001394672.1:p.Gln1800Pro missense NM_001407744.1:c.5399A>C NP_001394673.1:p.Gln1800Pro missense NM_001407745.1:c.5399A>C NP_001394674.1:p.Gln1800Pro missense NM_001407746.1:c.5399A>C NP_001394675.1:p.Gln1800Pro missense NM_001407747.1:c.5399A>C NP_001394676.1:p.Gln1800Pro missense NM_001407748.1:c.5399A>C NP_001394677.1:p.Gln1800Pro missense NM_001407749.1:c.5399A>C NP_001394678.1:p.Gln1800Pro missense NM_001407750.1:c.5399A>C NP_001394679.1:p.Gln1800Pro missense NM_001407751.1:c.5399A>C NP_001394680.1:p.Gln1800Pro missense NM_001407752.1:c.5399A>C NP_001394681.1:p.Gln1800Pro missense NM_001407838.1:c.5396A>C NP_001394767.1:p.Gln1799Pro missense NM_001407839.1:c.5396A>C NP_001394768.1:p.Gln1799Pro missense NM_001407841.1:c.5396A>C NP_001394770.1:p.Gln1799Pro missense NM_001407842.1:c.5396A>C NP_001394771.1:p.Gln1799Pro missense NM_001407843.1:c.5396A>C NP_001394772.1:p.Gln1799Pro missense NM_001407844.1:c.5396A>C NP_001394773.1:p.Gln1799Pro missense NM_001407845.1:c.5396A>C NP_001394774.1:p.Gln1799Pro missense NM_001407846.1:c.5396A>C NP_001394775.1:p.Gln1799Pro missense NM_001407847.1:c.5396A>C NP_001394776.1:p.Gln1799Pro missense NM_001407848.1:c.5396A>C NP_001394777.1:p.Gln1799Pro missense NM_001407849.1:c.5396A>C NP_001394778.1:p.Gln1799Pro missense NM_001407850.1:c.5396A>C NP_001394779.1:p.Gln1799Pro missense NM_001407851.1:c.5396A>C NP_001394780.1:p.Gln1799Pro missense NM_001407852.1:c.5396A>C NP_001394781.1:p.Gln1799Pro missense NM_001407853.1:c.5396A>C NP_001394782.1:p.Gln1799Pro missense NM_001407854.1:c.*57A>C NM_001407858.1:c.*57A>C NM_001407859.1:c.*57A>C NM_001407860.1:c.*57A>C NM_001407861.1:c.*57A>C NM_001407862.1:c.5342A>C NP_001394791.1:p.Gln1781Pro missense NM_001407863.1:c.5339A>C NP_001394792.1:p.Gln1780Pro missense NM_001407874.1:c.5336A>C NP_001394803.1:p.Gln1779Pro missense NM_001407875.1:c.5336A>C NP_001394804.1:p.Gln1779Pro missense NM_001407879.1:c.5333A>C NP_001394808.1:p.Gln1778Pro missense NM_001407881.1:c.5333A>C NP_001394810.1:p.Gln1778Pro missense NM_001407882.1:c.5333A>C NP_001394811.1:p.Gln1778Pro missense NM_001407884.1:c.5333A>C NP_001394813.1:p.Gln1778Pro missense NM_001407885.1:c.5333A>C NP_001394814.1:p.Gln1778Pro missense NM_001407886.1:c.5333A>C NP_001394815.1:p.Gln1778Pro missense NM_001407887.1:c.5333A>C NP_001394816.1:p.Gln1778Pro missense NM_001407889.1:c.5333A>C NP_001394818.1:p.Gln1778Pro missense NM_001407894.1:c.5330A>C NP_001394823.1:p.Gln1777Pro missense NM_001407895.1:c.5330A>C NP_001394824.1:p.Gln1777Pro missense NM_001407896.1:c.5330A>C NP_001394825.1:p.Gln1777Pro missense NM_001407897.1:c.5330A>C NP_001394826.1:p.Gln1777Pro missense NM_001407898.1:c.5330A>C NP_001394827.1:p.Gln1777Pro missense NM_001407899.1:c.5330A>C NP_001394828.1:p.Gln1777Pro missense NM_001407900.1:c.5330A>C NP_001394829.1:p.Gln1777Pro missense NM_001407902.1:c.5330A>C NP_001394831.1:p.Gln1777Pro missense NM_001407904.1:c.5330A>C NP_001394833.1:p.Gln1777Pro missense NM_001407906.1:c.5330A>C NP_001394835.1:p.Gln1777Pro missense NM_001407907.1:c.5330A>C NP_001394836.1:p.Gln1777Pro missense NM_001407908.1:c.5330A>C NP_001394837.1:p.Gln1777Pro missense NM_001407909.1:c.5330A>C NP_001394838.1:p.Gln1777Pro missense NM_001407910.1:c.5330A>C NP_001394839.1:p.Gln1777Pro missense NM_001407915.1:c.5327A>C NP_001394844.1:p.Gln1776Pro missense NM_001407916.1:c.5327A>C NP_001394845.1:p.Gln1776Pro missense NM_001407917.1:c.5327A>C NP_001394846.1:p.Gln1776Pro missense NM_001407918.1:c.5327A>C NP_001394847.1:p.Gln1776Pro missense NM_001407919.1:c.5291A>C NP_001394848.1:p.Gln1764Pro missense NM_001407920.1:c.5279A>C NP_001394849.1:p.Gln1760Pro missense NM_001407921.1:c.5279A>C NP_001394850.1:p.Gln1760Pro missense NM_001407922.1:c.5279A>C NP_001394851.1:p.Gln1760Pro missense NM_001407923.1:c.5279A>C NP_001394852.1:p.Gln1760Pro missense NM_001407924.1:c.5279A>C NP_001394853.1:p.Gln1760Pro missense NM_001407925.1:c.5279A>C NP_001394854.1:p.Gln1760Pro missense NM_001407926.1:c.5279A>C NP_001394855.1:p.Gln1760Pro missense NM_001407927.1:c.5276A>C NP_001394856.1:p.Gln1759Pro missense NM_001407928.1:c.5276A>C NP_001394857.1:p.Gln1759Pro missense NM_001407929.1:c.5276A>C NP_001394858.1:p.Gln1759Pro missense NM_001407930.1:c.5276A>C NP_001394859.1:p.Gln1759Pro missense NM_001407931.1:c.5276A>C NP_001394860.1:p.Gln1759Pro missense NM_001407932.1:c.5276A>C NP_001394861.1:p.Gln1759Pro missense NM_001407933.1:c.5276A>C NP_001394862.1:p.Gln1759Pro missense NM_001407934.1:c.5273A>C NP_001394863.1:p.Gln1758Pro missense NM_001407935.1:c.5273A>C NP_001394864.1:p.Gln1758Pro missense NM_001407936.1:c.5273A>C NP_001394865.1:p.Gln1758Pro missense NM_001407937.1:c.*57A>C NM_001407938.1:c.*57A>C NM_001407939.1:c.*57A>C NM_001407940.1:c.*57A>C NM_001407941.1:c.*57A>C NM_001407942.1:c.*57A>C NM_001407943.1:c.*57A>C NM_001407944.1:c.*57A>C NM_001407945.1:c.*57A>C NM_001407946.1:c.5210A>C NP_001394875.1:p.Gln1737Pro missense NM_001407947.1:c.5210A>C NP_001394876.1:p.Gln1737Pro missense NM_001407948.1:c.5210A>C NP_001394877.1:p.Gln1737Pro missense NM_001407949.1:c.5210A>C NP_001394878.1:p.Gln1737Pro missense NM_001407950.1:c.5207A>C NP_001394879.1:p.Gln1736Pro missense NM_001407951.1:c.5207A>C NP_001394880.1:p.Gln1736Pro missense NM_001407952.1:c.5207A>C NP_001394881.1:p.Gln1736Pro missense NM_001407953.1:c.5207A>C NP_001394882.1:p.Gln1736Pro missense NM_001407954.1:c.5207A>C NP_001394883.1:p.Gln1736Pro missense NM_001407955.1:c.5207A>C NP_001394884.1:p.Gln1736Pro missense NM_001407956.1:c.5204A>C NP_001394885.1:p.Gln1735Pro missense NM_001407957.1:c.5204A>C NP_001394886.1:p.Gln1735Pro missense NM_001407958.1:c.5204A>C NP_001394887.1:p.Gln1735Pro missense NM_001407959.1:c.5162A>C NP_001394888.1:p.Gln1721Pro missense NM_001407960.1:c.5159A>C NP_001394889.1:p.Gln1720Pro missense NM_001407962.1:c.5159A>C NP_001394891.1:p.Gln1720Pro missense NM_001407963.1:c.5156A>C NP_001394892.1:p.Gln1719Pro missense NM_001407964.1:c.5081A>C NP_001394893.1:p.Gln1694Pro missense NM_001407965.1:c.5036A>C NP_001394894.1:p.Gln1679Pro missense NM_001407966.1:c.4655A>C NP_001394895.1:p.Gln1552Pro missense NM_001407967.1:c.4652A>C NP_001394896.1:p.Gln1551Pro missense NM_001407968.1:c.2939A>C NP_001394897.1:p.Gln980Pro missense NM_001407969.1:c.2936A>C NP_001394898.1:p.Gln979Pro missense NM_001407970.1:c.2300A>C NP_001394899.1:p.Gln767Pro missense NM_001407971.1:c.2300A>C NP_001394900.1:p.Gln767Pro missense NM_001407972.1:c.2297A>C NP_001394901.1:p.Gln766Pro missense NM_001407973.1:c.2234A>C NP_001394902.1:p.Gln745Pro missense NM_001407974.1:c.2234A>C NP_001394903.1:p.Gln745Pro missense NM_001407975.1:c.2234A>C NP_001394904.1:p.Gln745Pro missense NM_001407976.1:c.2234A>C NP_001394905.1:p.Gln745Pro missense NM_001407977.1:c.2234A>C NP_001394906.1:p.Gln745Pro missense NM_001407978.1:c.2234A>C NP_001394907.1:p.Gln745Pro missense NM_001407979.1:c.2231A>C NP_001394908.1:p.Gln744Pro missense NM_001407980.1:c.2231A>C NP_001394909.1:p.Gln744Pro missense NM_001407981.1:c.2231A>C NP_001394910.1:p.Gln744Pro missense NM_001407982.1:c.2231A>C NP_001394911.1:p.Gln744Pro missense NM_001407983.1:c.2231A>C NP_001394912.1:p.Gln744Pro missense NM_001407984.1:c.2231A>C NP_001394913.1:p.Gln744Pro missense NM_001407985.1:c.2231A>C NP_001394914.1:p.Gln744Pro missense NM_001407986.1:c.2231A>C NP_001394915.1:p.Gln744Pro missense NM_001407990.1:c.2231A>C NP_001394919.1:p.Gln744Pro missense NM_001407991.1:c.2231A>C NP_001394920.1:p.Gln744Pro missense NM_001407992.1:c.2231A>C NP_001394921.1:p.Gln744Pro missense NM_001407993.1:c.2231A>C NP_001394922.1:p.Gln744Pro missense NM_001408392.1:c.2228A>C NP_001395321.1:p.Gln743Pro missense NM_001408396.1:c.2228A>C NP_001395325.1:p.Gln743Pro missense NM_001408397.1:c.2228A>C NP_001395326.1:p.Gln743Pro missense NM_001408398.1:c.2228A>C NP_001395327.1:p.Gln743Pro missense NM_001408399.1:c.2228A>C NP_001395328.1:p.Gln743Pro missense NM_001408400.1:c.2228A>C NP_001395329.1:p.Gln743Pro missense NM_001408401.1:c.2228A>C NP_001395330.1:p.Gln743Pro missense NM_001408402.1:c.2228A>C NP_001395331.1:p.Gln743Pro missense NM_001408403.1:c.2228A>C NP_001395332.1:p.Gln743Pro missense NM_001408404.1:c.2228A>C NP_001395333.1:p.Gln743Pro missense NM_001408406.1:c.2225A>C NP_001395335.1:p.Gln742Pro missense NM_001408407.1:c.2225A>C NP_001395336.1:p.Gln742Pro missense NM_001408408.1:c.2225A>C NP_001395337.1:p.Gln742Pro missense NM_001408409.1:c.2222A>C NP_001395338.1:p.Gln741Pro missense NM_001408410.1:c.2159A>C NP_001395339.1:p.Gln720Pro missense NM_001408411.1:c.2156A>C NP_001395340.1:p.Gln719Pro missense NM_001408412.1:c.2153A>C NP_001395341.1:p.Gln718Pro missense NM_001408413.1:c.2153A>C NP_001395342.1:p.Gln718Pro missense NM_001408414.1:c.2153A>C NP_001395343.1:p.Gln718Pro missense NM_001408415.1:c.2153A>C NP_001395344.1:p.Gln718Pro missense NM_001408416.1:c.2153A>C NP_001395345.1:p.Gln718Pro missense NM_001408418.1:c.2117A>C NP_001395347.1:p.Gln706Pro missense NM_001408419.1:c.2117A>C NP_001395348.1:p.Gln706Pro missense NM_001408420.1:c.2117A>C NP_001395349.1:p.Gln706Pro missense NM_001408421.1:c.2114A>C NP_001395350.1:p.Gln705Pro missense NM_001408422.1:c.2114A>C NP_001395351.1:p.Gln705Pro missense NM_001408423.1:c.2114A>C NP_001395352.1:p.Gln705Pro missense NM_001408424.1:c.2114A>C NP_001395353.1:p.Gln705Pro missense NM_001408425.1:c.2111A>C NP_001395354.1:p.Gln704Pro missense NM_001408426.1:c.2111A>C NP_001395355.1:p.Gln704Pro missense NM_001408427.1:c.2111A>C NP_001395356.1:p.Gln704Pro missense NM_001408428.1:c.2111A>C NP_001395357.1:p.Gln704Pro missense NM_001408429.1:c.2111A>C NP_001395358.1:p.Gln704Pro missense NM_001408430.1:c.2111A>C NP_001395359.1:p.Gln704Pro missense NM_001408431.1:c.2111A>C NP_001395360.1:p.Gln704Pro missense NM_001408432.1:c.2108A>C NP_001395361.1:p.Gln703Pro missense NM_001408433.1:c.2108A>C NP_001395362.1:p.Gln703Pro missense NM_001408434.1:c.2108A>C NP_001395363.1:p.Gln703Pro missense NM_001408435.1:c.2108A>C NP_001395364.1:p.Gln703Pro missense NM_001408436.1:c.2108A>C NP_001395365.1:p.Gln703Pro missense NM_001408437.1:c.2108A>C NP_001395366.1:p.Gln703Pro missense NM_001408438.1:c.2108A>C NP_001395367.1:p.Gln703Pro missense NM_001408439.1:c.2108A>C NP_001395368.1:p.Gln703Pro missense NM_001408440.1:c.2108A>C NP_001395369.1:p.Gln703Pro missense NM_001408441.1:c.2108A>C NP_001395370.1:p.Gln703Pro missense NM_001408442.1:c.2108A>C NP_001395371.1:p.Gln703Pro missense NM_001408443.1:c.2108A>C NP_001395372.1:p.Gln703Pro missense NM_001408444.1:c.2108A>C NP_001395373.1:p.Gln703Pro missense NM_001408445.1:c.2105A>C NP_001395374.1:p.Gln702Pro missense NM_001408446.1:c.2105A>C NP_001395375.1:p.Gln702Pro missense NM_001408447.1:c.2105A>C NP_001395376.1:p.Gln702Pro missense NM_001408448.1:c.2105A>C NP_001395377.1:p.Gln702Pro missense NM_001408450.1:c.2105A>C NP_001395379.1:p.Gln702Pro missense NM_001408451.1:c.2099A>C NP_001395380.1:p.Gln700Pro missense NM_001408452.1:c.2093A>C NP_001395381.1:p.Gln698Pro missense NM_001408453.1:c.2093A>C NP_001395382.1:p.Gln698Pro missense NM_001408454.1:c.2093A>C NP_001395383.1:p.Gln698Pro missense NM_001408455.1:c.2093A>C NP_001395384.1:p.Gln698Pro missense NM_001408456.1:c.2093A>C NP_001395385.1:p.Gln698Pro missense NM_001408457.1:c.2093A>C NP_001395386.1:p.Gln698Pro missense NM_001408458.1:c.2090A>C NP_001395387.1:p.Gln697Pro missense NM_001408459.1:c.2090A>C NP_001395388.1:p.Gln697Pro missense NM_001408460.1:c.2090A>C NP_001395389.1:p.Gln697Pro missense NM_001408461.1:c.2090A>C NP_001395390.1:p.Gln697Pro missense NM_001408462.1:c.2090A>C NP_001395391.1:p.Gln697Pro missense NM_001408463.1:c.2090A>C NP_001395392.1:p.Gln697Pro missense NM_001408464.1:c.2090A>C NP_001395393.1:p.Gln697Pro missense NM_001408465.1:c.2090A>C NP_001395394.1:p.Gln697Pro missense NM_001408466.1:c.2090A>C NP_001395395.1:p.Gln697Pro missense NM_001408467.1:c.2090A>C NP_001395396.1:p.Gln697Pro missense NM_001408468.1:c.2087A>C NP_001395397.1:p.Gln696Pro missense NM_001408469.1:c.2087A>C NP_001395398.1:p.Gln696Pro missense NM_001408470.1:c.2087A>C NP_001395399.1:p.Gln696Pro missense NM_001408472.1:c.*57A>C NM_001408473.1:c.*57A>C NM_001408474.1:c.2033A>C NP_001395403.1:p.Gln678Pro missense NM_001408475.1:c.2030A>C NP_001395404.1:p.Gln677Pro missense NM_001408476.1:c.2030A>C NP_001395405.1:p.Gln677Pro missense NM_001408478.1:c.2024A>C NP_001395407.1:p.Gln675Pro missense NM_001408479.1:c.2024A>C NP_001395408.1:p.Gln675Pro missense NM_001408480.1:c.2024A>C NP_001395409.1:p.Gln675Pro missense NM_001408481.1:c.2021A>C NP_001395410.1:p.Gln674Pro missense NM_001408482.1:c.2021A>C NP_001395411.1:p.Gln674Pro missense NM_001408483.1:c.2021A>C NP_001395412.1:p.Gln674Pro missense NM_001408484.1:c.2021A>C NP_001395413.1:p.Gln674Pro missense NM_001408485.1:c.2021A>C NP_001395414.1:p.Gln674Pro missense NM_001408489.1:c.2021A>C NP_001395418.1:p.Gln674Pro missense NM_001408490.1:c.2021A>C NP_001395419.1:p.Gln674Pro missense NM_001408491.1:c.2021A>C NP_001395420.1:p.Gln674Pro missense NM_001408492.1:c.2018A>C NP_001395421.1:p.Gln673Pro missense NM_001408493.1:c.2018A>C NP_001395422.1:p.Gln673Pro missense NM_001408494.1:c.1994A>C NP_001395423.1:p.Gln665Pro missense NM_001408495.1:c.1988A>C NP_001395424.1:p.Gln663Pro missense NM_001408496.1:c.1970A>C NP_001395425.1:p.Gln657Pro missense NM_001408497.1:c.1970A>C NP_001395426.1:p.Gln657Pro missense NM_001408498.1:c.1970A>C NP_001395427.1:p.Gln657Pro missense NM_001408499.1:c.1970A>C NP_001395428.1:p.Gln657Pro missense NM_001408500.1:c.1970A>C NP_001395429.1:p.Gln657Pro missense NM_001408501.1:c.1970A>C NP_001395430.1:p.Gln657Pro missense NM_001408502.1:c.1967A>C NP_001395431.1:p.Gln656Pro missense NM_001408503.1:c.1967A>C NP_001395432.1:p.Gln656Pro missense NM_001408504.1:c.1967A>C NP_001395433.1:p.Gln656Pro missense NM_001408505.1:c.1964A>C NP_001395434.1:p.Gln655Pro missense NM_001408506.1:c.1907A>C NP_001395435.1:p.Gln636Pro missense NM_001408507.1:c.1904A>C NP_001395436.1:p.Gln635Pro missense NM_001408508.1:c.1895A>C NP_001395437.1:p.Gln632Pro missense NM_001408509.1:c.1892A>C NP_001395438.1:p.Gln631Pro missense NM_001408510.1:c.1853A>C NP_001395439.1:p.Gln618Pro missense NM_001408511.1:c.1850A>C NP_001395440.1:p.Gln617Pro missense NM_001408512.1:c.1730A>C NP_001395441.1:p.Gln577Pro missense NM_001408513.1:c.1703A>C NP_001395442.1:p.Gln568Pro missense NM_001408514.1:c.1307A>C NP_001395443.1:p.Gln436Pro missense NM_007297.4:c.5402A>C NP_009228.2:p.Gln1801Pro missense NM_007298.4:c.2231A>C NP_009229.2:p.Gln744Pro missense NM_007299.4:c.*57A>C 3 prime UTR NM_007300.4:c.5606A>C NP_009231.2:p.Gln1869Pro missense NM_007304.2:c.2231A>C NP_009235.2:p.Gln744Pro missense NR_027676.2:n.5720A>C non-coding transcript variant NC_000017.11:g.43045727T>G NC_000017.10:g.41197744T>G NG_005905.2:g.172257A>C LRG_292:g.172257A>C LRG_292t1:c.5543A>C LRG_292p1:p.Gln1848Pro - Protein change
- Q1801P, Q1869P, Q1848P, Q744P, Q1552P, Q1721P, Q1735P, Q1759P, Q1778P, Q1779P, Q1780P, Q1799P, Q1806P, Q1828P, Q1844P, Q1846P, Q1847P, Q617P, Q631P, Q636P, Q674P, Q706P, Q718P, Q741P, Q745P, Q767P, Q1679P, Q1694P, Q1720P, Q1736P, Q1758P, Q1760P, Q1800P, Q1804P, Q1805P, Q1820P, Q1829P, Q1868P, Q568P, Q632P, Q656P, Q657P, Q678P, Q696P, Q698P, Q700P, Q719P, Q1551P, Q1719P, Q1764P, Q1776P, Q1777P, Q1781P, Q1807P, Q1821P, Q1822P, Q1843P, Q1845P, Q1870P, Q577P, Q618P, Q655P, Q665P, Q677P, Q702P, Q703P, Q705P, Q720P, Q766P, Q980P, Q1737P, Q436P, Q635P, Q663P, Q673P, Q675P, Q697P, Q704P, Q742P, Q743P, Q979P
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045726:T: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.5543A>C, a MISSENSE variant, produced a function score of -1.75, 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 |
13044 | 14850 | |
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
|
- | RCV001077580.3 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV001243532.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.74979878757858
|
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: SCV001243532.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5543A>C, a MISSENSE variant, produced a function score of -1.75, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5543A>C, a MISSENSE variant, produced a function score of -1.75, 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| 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 rs2050865445 ...
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.