ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
Variation ID: 55578 Accession: VCV000055578.17
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43047678 (GRCh38) [ NCBI UCSC ] 17: 41199695 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Feb 28, 2024 Oct 25, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5432A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1811Arg missense NM_001407571.1:c.5219A>G NP_001394500.1:p.Gln1740Arg missense NM_001407581.1:c.5498A>G NP_001394510.1:p.Gln1833Arg missense NM_001407582.1:c.5498A>G NP_001394511.1:p.Gln1833Arg missense NM_001407583.1:c.5495A>G NP_001394512.1:p.Gln1832Arg missense NM_001407585.1:c.5495A>G NP_001394514.1:p.Gln1832Arg missense NM_001407587.1:c.5495A>G NP_001394516.1:p.Gln1832Arg missense NM_001407590.1:c.5492A>G NP_001394519.1:p.Gln1831Arg missense NM_001407591.1:c.5492A>G NP_001394520.1:p.Gln1831Arg missense NM_001407593.1:c.5432A>G NP_001394522.1:p.Gln1811Arg missense NM_001407594.1:c.5432A>G NP_001394523.1:p.Gln1811Arg missense NM_001407596.1:c.5432A>G NP_001394525.1:p.Gln1811Arg missense NM_001407597.1:c.5432A>G NP_001394526.1:p.Gln1811Arg missense NM_001407598.1:c.5432A>G NP_001394527.1:p.Gln1811Arg missense NM_001407602.1:c.5432A>G NP_001394531.1:p.Gln1811Arg missense NM_001407603.1:c.5432A>G NP_001394532.1:p.Gln1811Arg missense NM_001407605.1:c.5432A>G NP_001394534.1:p.Gln1811Arg missense NM_001407610.1:c.5429A>G NP_001394539.1:p.Gln1810Arg missense NM_001407611.1:c.5429A>G NP_001394540.1:p.Gln1810Arg missense NM_001407612.1:c.5429A>G NP_001394541.1:p.Gln1810Arg missense NM_001407613.1:c.5429A>G NP_001394542.1:p.Gln1810Arg missense NM_001407614.1:c.5429A>G NP_001394543.1:p.Gln1810Arg missense NM_001407615.1:c.5429A>G NP_001394544.1:p.Gln1810Arg missense NM_001407616.1:c.5429A>G NP_001394545.1:p.Gln1810Arg missense NM_001407617.1:c.5429A>G NP_001394546.1:p.Gln1810Arg missense NM_001407618.1:c.5429A>G NP_001394547.1:p.Gln1810Arg missense NM_001407619.1:c.5429A>G NP_001394548.1:p.Gln1810Arg missense NM_001407620.1:c.5429A>G NP_001394549.1:p.Gln1810Arg missense NM_001407621.1:c.5429A>G NP_001394550.1:p.Gln1810Arg missense NM_001407622.1:c.5429A>G NP_001394551.1:p.Gln1810Arg missense NM_001407623.1:c.5429A>G NP_001394552.1:p.Gln1810Arg missense NM_001407624.1:c.5429A>G NP_001394553.1:p.Gln1810Arg missense NM_001407625.1:c.5429A>G NP_001394554.1:p.Gln1810Arg missense NM_001407626.1:c.5429A>G NP_001394555.1:p.Gln1810Arg missense NM_001407627.1:c.5426A>G NP_001394556.1:p.Gln1809Arg missense NM_001407628.1:c.5426A>G NP_001394557.1:p.Gln1809Arg missense NM_001407629.1:c.5426A>G NP_001394558.1:p.Gln1809Arg missense NM_001407630.1:c.5426A>G NP_001394559.1:p.Gln1809Arg missense NM_001407631.1:c.5426A>G NP_001394560.1:p.Gln1809Arg missense NM_001407632.1:c.5426A>G NP_001394561.1:p.Gln1809Arg missense NM_001407633.1:c.5426A>G NP_001394562.1:p.Gln1809Arg missense NM_001407634.1:c.5426A>G NP_001394563.1:p.Gln1809Arg missense NM_001407635.1:c.5426A>G NP_001394564.1:p.Gln1809Arg missense NM_001407636.1:c.5426A>G NP_001394565.1:p.Gln1809Arg missense NM_001407637.1:c.5426A>G NP_001394566.1:p.Gln1809Arg missense NM_001407638.1:c.5426A>G NP_001394567.1:p.Gln1809Arg missense NM_001407639.1:c.5426A>G NP_001394568.1:p.Gln1809Arg missense NM_001407640.1:c.5426A>G NP_001394569.1:p.Gln1809Arg missense NM_001407641.1:c.5426A>G NP_001394570.1:p.Gln1809Arg missense NM_001407642.1:c.5426A>G NP_001394571.1:p.Gln1809Arg missense NM_001407644.1:c.5423A>G NP_001394573.1:p.Gln1808Arg missense NM_001407645.1:c.5423A>G NP_001394574.1:p.Gln1808Arg missense NM_001407646.1:c.5420A>G NP_001394575.1:p.Gln1807Arg missense NM_001407647.1:c.5417A>G NP_001394576.1:p.Gln1806Arg missense NM_001407648.1:c.5375A>G NP_001394577.1:p.Gln1792Arg missense NM_001407649.1:c.5372A>G NP_001394578.1:p.Gln1791Arg missense NM_001407652.1:c.5354A>G NP_001394581.1:p.Gln1785Arg missense NM_001407653.1:c.5354A>G NP_001394582.1:p.Gln1785Arg missense NM_001407654.1:c.5354A>G NP_001394583.1:p.Gln1785Arg missense NM_001407655.1:c.5354A>G NP_001394584.1:p.Gln1785Arg missense NM_001407656.1:c.5351A>G NP_001394585.1:p.Gln1784Arg missense NM_001407657.1:c.5351A>G NP_001394586.1:p.Gln1784Arg missense NM_001407658.1:c.5351A>G NP_001394587.1:p.Gln1784Arg missense NM_001407659.1:c.5348A>G NP_001394588.1:p.Gln1783Arg missense NM_001407660.1:c.5348A>G NP_001394589.1:p.Gln1783Arg missense NM_001407661.1:c.5348A>G NP_001394590.1:p.Gln1783Arg missense NM_001407662.1:c.5348A>G NP_001394591.1:p.Gln1783Arg missense NM_001407663.1:c.5348A>G NP_001394592.1:p.Gln1783Arg missense NM_001407664.1:c.5309A>G NP_001394593.1:p.Gln1770Arg missense NM_001407665.1:c.5309A>G NP_001394594.1:p.Gln1770Arg missense NM_001407666.1:c.5309A>G NP_001394595.1:p.Gln1770Arg missense NM_001407667.1:c.5309A>G NP_001394596.1:p.Gln1770Arg missense NM_001407668.1:c.5309A>G NP_001394597.1:p.Gln1770Arg missense NM_001407669.1:c.5309A>G NP_001394598.1:p.Gln1770Arg missense NM_001407670.1:c.5306A>G NP_001394599.1:p.Gln1769Arg missense NM_001407671.1:c.5306A>G NP_001394600.1:p.Gln1769Arg missense NM_001407672.1:c.5306A>G NP_001394601.1:p.Gln1769Arg missense NM_001407673.1:c.5306A>G NP_001394602.1:p.Gln1769Arg missense NM_001407674.1:c.5306A>G NP_001394603.1:p.Gln1769Arg missense NM_001407675.1:c.5306A>G NP_001394604.1:p.Gln1769Arg missense NM_001407676.1:c.5306A>G NP_001394605.1:p.Gln1769Arg missense NM_001407677.1:c.5306A>G NP_001394606.1:p.Gln1769Arg missense NM_001407678.1:c.5306A>G NP_001394607.1:p.Gln1769Arg missense NM_001407679.1:c.5306A>G NP_001394608.1:p.Gln1769Arg missense NM_001407680.1:c.5306A>G NP_001394609.1:p.Gln1769Arg missense NM_001407681.1:c.5303A>G NP_001394610.1:p.Gln1768Arg missense NM_001407682.1:c.5303A>G NP_001394611.1:p.Gln1768Arg missense NM_001407683.1:c.5303A>G NP_001394612.1:p.Gln1768Arg missense NM_001407684.1:c.5303A>G NP_001394613.1:p.Gln1768Arg missense NM_001407685.1:c.5303A>G NP_001394614.1:p.Gln1768Arg missense NM_001407686.1:c.5303A>G NP_001394615.1:p.Gln1768Arg missense NM_001407687.1:c.5303A>G NP_001394616.1:p.Gln1768Arg missense NM_001407688.1:c.5303A>G NP_001394617.1:p.Gln1768Arg missense NM_001407689.1:c.5303A>G NP_001394618.1:p.Gln1768Arg missense NM_001407690.1:c.5300A>G NP_001394619.1:p.Gln1767Arg missense NM_001407691.1:c.5300A>G NP_001394620.1:p.Gln1767Arg missense NM_001407692.1:c.5291A>G NP_001394621.1:p.Gln1764Arg missense NM_001407694.1:c.5291A>G NP_001394623.1:p.Gln1764Arg missense NM_001407695.1:c.5291A>G NP_001394624.1:p.Gln1764Arg missense NM_001407696.1:c.5291A>G NP_001394625.1:p.Gln1764Arg missense NM_001407697.1:c.5291A>G NP_001394626.1:p.Gln1764Arg missense NM_001407698.1:c.5291A>G NP_001394627.1:p.Gln1764Arg missense NM_001407724.1:c.5291A>G NP_001394653.1:p.Gln1764Arg missense NM_001407725.1:c.5291A>G NP_001394654.1:p.Gln1764Arg missense NM_001407726.1:c.5291A>G NP_001394655.1:p.Gln1764Arg missense NM_001407727.1:c.5291A>G NP_001394656.1:p.Gln1764Arg missense NM_001407728.1:c.5291A>G NP_001394657.1:p.Gln1764Arg missense NM_001407729.1:c.5291A>G NP_001394658.1:p.Gln1764Arg missense NM_001407730.1:c.5291A>G NP_001394659.1:p.Gln1764Arg missense NM_001407731.1:c.5291A>G NP_001394660.1:p.Gln1764Arg missense NM_001407732.1:c.5288A>G NP_001394661.1:p.Gln1763Arg missense NM_001407733.1:c.5288A>G NP_001394662.1:p.Gln1763Arg missense NM_001407734.1:c.5288A>G NP_001394663.1:p.Gln1763Arg missense NM_001407735.1:c.5288A>G NP_001394664.1:p.Gln1763Arg missense NM_001407736.1:c.5288A>G NP_001394665.1:p.Gln1763Arg missense NM_001407737.1:c.5288A>G NP_001394666.1:p.Gln1763Arg missense NM_001407738.1:c.5288A>G NP_001394667.1:p.Gln1763Arg missense NM_001407739.1:c.5288A>G NP_001394668.1:p.Gln1763Arg missense NM_001407740.1:c.5288A>G NP_001394669.1:p.Gln1763Arg missense NM_001407741.1:c.5288A>G NP_001394670.1:p.Gln1763Arg missense NM_001407742.1:c.5288A>G NP_001394671.1:p.Gln1763Arg missense NM_001407743.1:c.5288A>G NP_001394672.1:p.Gln1763Arg missense NM_001407744.1:c.5288A>G NP_001394673.1:p.Gln1763Arg missense NM_001407745.1:c.5288A>G NP_001394674.1:p.Gln1763Arg missense NM_001407746.1:c.5288A>G NP_001394675.1:p.Gln1763Arg missense NM_001407747.1:c.5288A>G NP_001394676.1:p.Gln1763Arg missense NM_001407748.1:c.5288A>G NP_001394677.1:p.Gln1763Arg missense NM_001407749.1:c.5288A>G NP_001394678.1:p.Gln1763Arg missense NM_001407750.1:c.5288A>G NP_001394679.1:p.Gln1763Arg missense NM_001407751.1:c.5288A>G NP_001394680.1:p.Gln1763Arg missense NM_001407752.1:c.5288A>G NP_001394681.1:p.Gln1763Arg missense NM_001407838.1:c.5285A>G NP_001394767.1:p.Gln1762Arg missense NM_001407839.1:c.5285A>G NP_001394768.1:p.Gln1762Arg missense NM_001407841.1:c.5285A>G NP_001394770.1:p.Gln1762Arg missense NM_001407842.1:c.5285A>G NP_001394771.1:p.Gln1762Arg missense NM_001407843.1:c.5285A>G NP_001394772.1:p.Gln1762Arg missense NM_001407844.1:c.5285A>G NP_001394773.1:p.Gln1762Arg missense NM_001407845.1:c.5285A>G NP_001394774.1:p.Gln1762Arg missense NM_001407846.1:c.5285A>G NP_001394775.1:p.Gln1762Arg missense NM_001407847.1:c.5285A>G NP_001394776.1:p.Gln1762Arg missense NM_001407848.1:c.5285A>G NP_001394777.1:p.Gln1762Arg missense NM_001407849.1:c.5285A>G NP_001394778.1:p.Gln1762Arg missense NM_001407850.1:c.5285A>G NP_001394779.1:p.Gln1762Arg missense NM_001407851.1:c.5285A>G NP_001394780.1:p.Gln1762Arg missense NM_001407852.1:c.5285A>G NP_001394781.1:p.Gln1762Arg missense NM_001407853.1:c.5285A>G NP_001394782.1:p.Gln1762Arg missense NM_001407854.1:c.5358A>G NP_001394783.1:p.Ala1786= synonymous NM_001407858.1:c.5355A>G NP_001394787.1:p.Ala1785= synonymous NM_001407859.1:c.5355A>G NP_001394788.1:p.Ala1785= synonymous NM_001407860.1:c.5355A>G NP_001394789.1:p.Ala1785= synonymous NM_001407861.1:c.5352A>G NP_001394790.1:p.Ala1784= synonymous NM_001407862.1:c.5231A>G NP_001394791.1:p.Gln1744Arg missense NM_001407863.1:c.5228A>G NP_001394792.1:p.Gln1743Arg missense NM_001407874.1:c.5225A>G NP_001394803.1:p.Gln1742Arg missense NM_001407875.1:c.5225A>G NP_001394804.1:p.Gln1742Arg missense NM_001407879.1:c.5222A>G NP_001394808.1:p.Gln1741Arg missense NM_001407881.1:c.5222A>G NP_001394810.1:p.Gln1741Arg missense NM_001407882.1:c.5222A>G NP_001394811.1:p.Gln1741Arg missense NM_001407884.1:c.5222A>G NP_001394813.1:p.Gln1741Arg missense NM_001407885.1:c.5222A>G NP_001394814.1:p.Gln1741Arg missense NM_001407886.1:c.5222A>G NP_001394815.1:p.Gln1741Arg missense NM_001407887.1:c.5222A>G NP_001394816.1:p.Gln1741Arg missense NM_001407889.1:c.5222A>G NP_001394818.1:p.Gln1741Arg missense NM_001407894.1:c.5219A>G NP_001394823.1:p.Gln1740Arg missense NM_001407895.1:c.5219A>G NP_001394824.1:p.Gln1740Arg missense NM_001407896.1:c.5219A>G NP_001394825.1:p.Gln1740Arg missense NM_001407897.1:c.5219A>G NP_001394826.1:p.Gln1740Arg missense NM_001407898.1:c.5219A>G NP_001394827.1:p.Gln1740Arg missense NM_001407899.1:c.5219A>G NP_001394828.1:p.Gln1740Arg missense NM_001407900.1:c.5219A>G NP_001394829.1:p.Gln1740Arg missense NM_001407902.1:c.5219A>G NP_001394831.1:p.Gln1740Arg missense NM_001407904.1:c.5219A>G NP_001394833.1:p.Gln1740Arg missense NM_001407906.1:c.5219A>G NP_001394835.1:p.Gln1740Arg missense NM_001407907.1:c.5219A>G NP_001394836.1:p.Gln1740Arg missense NM_001407908.1:c.5219A>G NP_001394837.1:p.Gln1740Arg missense NM_001407909.1:c.5219A>G NP_001394838.1:p.Gln1740Arg missense NM_001407910.1:c.5219A>G NP_001394839.1:p.Gln1740Arg missense NM_001407915.1:c.5216A>G NP_001394844.1:p.Gln1739Arg missense NM_001407916.1:c.5216A>G NP_001394845.1:p.Gln1739Arg missense NM_001407917.1:c.5216A>G NP_001394846.1:p.Gln1739Arg missense NM_001407918.1:c.5216A>G NP_001394847.1:p.Gln1739Arg missense NM_001407919.1:c.5180A>G NP_001394848.1:p.Gln1727Arg missense NM_001407920.1:c.5168A>G NP_001394849.1:p.Gln1723Arg missense NM_001407921.1:c.5168A>G NP_001394850.1:p.Gln1723Arg missense NM_001407922.1:c.5168A>G NP_001394851.1:p.Gln1723Arg missense NM_001407923.1:c.5168A>G NP_001394852.1:p.Gln1723Arg missense NM_001407924.1:c.5168A>G NP_001394853.1:p.Gln1723Arg missense NM_001407925.1:c.5168A>G NP_001394854.1:p.Gln1723Arg missense NM_001407926.1:c.5168A>G NP_001394855.1:p.Gln1723Arg missense NM_001407927.1:c.5165A>G NP_001394856.1:p.Gln1722Arg missense NM_001407928.1:c.5165A>G NP_001394857.1:p.Gln1722Arg missense NM_001407929.1:c.5165A>G NP_001394858.1:p.Gln1722Arg missense NM_001407930.1:c.5165A>G NP_001394859.1:p.Gln1722Arg missense NM_001407931.1:c.5165A>G NP_001394860.1:p.Gln1722Arg missense NM_001407932.1:c.5165A>G NP_001394861.1:p.Gln1722Arg missense NM_001407933.1:c.5165A>G NP_001394862.1:p.Gln1722Arg missense NM_001407934.1:c.5162A>G NP_001394863.1:p.Gln1721Arg missense NM_001407935.1:c.5162A>G NP_001394864.1:p.Gln1721Arg missense NM_001407936.1:c.5162A>G NP_001394865.1:p.Gln1721Arg missense NM_001407937.1:c.5235A>G NP_001394866.1:p.Ala1745= synonymous NM_001407938.1:c.5235A>G NP_001394867.1:p.Ala1745= synonymous NM_001407939.1:c.5232A>G NP_001394868.1:p.Ala1744= synonymous NM_001407940.1:c.5232A>G NP_001394869.1:p.Ala1744= synonymous NM_001407941.1:c.5229A>G NP_001394870.1:p.Ala1743= synonymous NM_001407942.1:c.5217A>G NP_001394871.1:p.Ala1739= synonymous NM_001407943.1:c.5214A>G NP_001394872.1:p.Ala1738= synonymous NM_001407944.1:c.5214A>G NP_001394873.1:p.Ala1738= synonymous NM_001407945.1:c.5214A>G NP_001394874.1:p.Ala1738= synonymous NM_001407946.1:c.5099A>G NP_001394875.1:p.Gln1700Arg missense NM_001407947.1:c.5099A>G NP_001394876.1:p.Gln1700Arg missense NM_001407948.1:c.5099A>G NP_001394877.1:p.Gln1700Arg missense NM_001407949.1:c.5099A>G NP_001394878.1:p.Gln1700Arg missense NM_001407950.1:c.5096A>G NP_001394879.1:p.Gln1699Arg missense NM_001407951.1:c.5096A>G NP_001394880.1:p.Gln1699Arg missense NM_001407952.1:c.5096A>G NP_001394881.1:p.Gln1699Arg missense NM_001407953.1:c.5096A>G NP_001394882.1:p.Gln1699Arg missense NM_001407954.1:c.5096A>G NP_001394883.1:p.Gln1699Arg missense NM_001407955.1:c.5096A>G NP_001394884.1:p.Gln1699Arg missense NM_001407956.1:c.5093A>G NP_001394885.1:p.Gln1698Arg missense NM_001407957.1:c.5093A>G NP_001394886.1:p.Gln1698Arg missense NM_001407958.1:c.5093A>G NP_001394887.1:p.Gln1698Arg missense NM_001407959.1:c.5051A>G NP_001394888.1:p.Gln1684Arg missense NM_001407960.1:c.5048A>G NP_001394889.1:p.Gln1683Arg missense NM_001407962.1:c.5048A>G NP_001394891.1:p.Gln1683Arg missense NM_001407963.1:c.5045A>G NP_001394892.1:p.Gln1682Arg missense NM_001407964.1:c.4970A>G NP_001394893.1:p.Gln1657Arg missense NM_001407965.1:c.4925A>G NP_001394894.1:p.Gln1642Arg missense NM_001407966.1:c.4544A>G NP_001394895.1:p.Gln1515Arg missense NM_001407967.1:c.4541A>G NP_001394896.1:p.Gln1514Arg missense NM_001407968.1:c.2828A>G NP_001394897.1:p.Gln943Arg missense NM_001407969.1:c.2825A>G NP_001394898.1:p.Gln942Arg missense NM_001407970.1:c.2189A>G NP_001394899.1:p.Gln730Arg missense NM_001407971.1:c.2189A>G NP_001394900.1:p.Gln730Arg missense NM_001407972.1:c.2186A>G NP_001394901.1:p.Gln729Arg missense NM_001407973.1:c.2123A>G NP_001394902.1:p.Gln708Arg missense NM_001407974.1:c.2123A>G NP_001394903.1:p.Gln708Arg missense NM_001407975.1:c.2123A>G NP_001394904.1:p.Gln708Arg missense NM_001407976.1:c.2123A>G NP_001394905.1:p.Gln708Arg missense NM_001407977.1:c.2123A>G NP_001394906.1:p.Gln708Arg missense NM_001407978.1:c.2123A>G NP_001394907.1:p.Gln708Arg missense NM_001407979.1:c.2120A>G NP_001394908.1:p.Gln707Arg missense NM_001407980.1:c.2120A>G NP_001394909.1:p.Gln707Arg missense NM_001407981.1:c.2120A>G NP_001394910.1:p.Gln707Arg missense NM_001407982.1:c.2120A>G NP_001394911.1:p.Gln707Arg missense NM_001407983.1:c.2120A>G NP_001394912.1:p.Gln707Arg missense NM_001407984.1:c.2120A>G NP_001394913.1:p.Gln707Arg missense NM_001407985.1:c.2120A>G NP_001394914.1:p.Gln707Arg missense NM_001407986.1:c.2120A>G NP_001394915.1:p.Gln707Arg missense NM_001407990.1:c.2120A>G NP_001394919.1:p.Gln707Arg missense NM_001407991.1:c.2120A>G NP_001394920.1:p.Gln707Arg missense NM_001407992.1:c.2120A>G NP_001394921.1:p.Gln707Arg missense NM_001407993.1:c.2120A>G NP_001394922.1:p.Gln707Arg missense NM_001408392.1:c.2117A>G NP_001395321.1:p.Gln706Arg missense NM_001408396.1:c.2117A>G NP_001395325.1:p.Gln706Arg missense NM_001408397.1:c.2117A>G NP_001395326.1:p.Gln706Arg missense NM_001408398.1:c.2117A>G NP_001395327.1:p.Gln706Arg missense NM_001408399.1:c.2117A>G NP_001395328.1:p.Gln706Arg missense NM_001408400.1:c.2117A>G NP_001395329.1:p.Gln706Arg missense NM_001408401.1:c.2117A>G NP_001395330.1:p.Gln706Arg missense NM_001408402.1:c.2117A>G NP_001395331.1:p.Gln706Arg missense NM_001408403.1:c.2117A>G NP_001395332.1:p.Gln706Arg missense NM_001408404.1:c.2117A>G NP_001395333.1:p.Gln706Arg missense NM_001408406.1:c.2114A>G NP_001395335.1:p.Gln705Arg missense NM_001408407.1:c.2114A>G NP_001395336.1:p.Gln705Arg missense NM_001408408.1:c.2114A>G NP_001395337.1:p.Gln705Arg missense NM_001408409.1:c.2111A>G NP_001395338.1:p.Gln704Arg missense NM_001408410.1:c.2048A>G NP_001395339.1:p.Gln683Arg missense NM_001408411.1:c.2045A>G NP_001395340.1:p.Gln682Arg missense NM_001408412.1:c.2042A>G NP_001395341.1:p.Gln681Arg missense NM_001408413.1:c.2042A>G NP_001395342.1:p.Gln681Arg missense NM_001408414.1:c.2042A>G NP_001395343.1:p.Gln681Arg missense NM_001408415.1:c.2042A>G NP_001395344.1:p.Gln681Arg missense NM_001408416.1:c.2042A>G NP_001395345.1:p.Gln681Arg missense NM_001408418.1:c.2006A>G NP_001395347.1:p.Gln669Arg missense NM_001408419.1:c.2006A>G NP_001395348.1:p.Gln669Arg missense NM_001408420.1:c.2006A>G NP_001395349.1:p.Gln669Arg missense NM_001408421.1:c.2003A>G NP_001395350.1:p.Gln668Arg missense NM_001408422.1:c.2003A>G NP_001395351.1:p.Gln668Arg missense NM_001408423.1:c.2003A>G NP_001395352.1:p.Gln668Arg missense NM_001408424.1:c.2003A>G NP_001395353.1:p.Gln668Arg missense NM_001408425.1:c.2000A>G NP_001395354.1:p.Gln667Arg missense NM_001408426.1:c.2000A>G NP_001395355.1:p.Gln667Arg missense NM_001408427.1:c.2000A>G NP_001395356.1:p.Gln667Arg missense NM_001408428.1:c.2000A>G NP_001395357.1:p.Gln667Arg missense NM_001408429.1:c.2000A>G NP_001395358.1:p.Gln667Arg missense NM_001408430.1:c.2000A>G NP_001395359.1:p.Gln667Arg missense NM_001408431.1:c.2000A>G NP_001395360.1:p.Gln667Arg missense NM_001408432.1:c.1997A>G NP_001395361.1:p.Gln666Arg missense NM_001408433.1:c.1997A>G NP_001395362.1:p.Gln666Arg missense NM_001408434.1:c.1997A>G NP_001395363.1:p.Gln666Arg missense NM_001408435.1:c.1997A>G NP_001395364.1:p.Gln666Arg missense NM_001408436.1:c.1997A>G NP_001395365.1:p.Gln666Arg missense NM_001408437.1:c.1997A>G NP_001395366.1:p.Gln666Arg missense NM_001408438.1:c.1997A>G NP_001395367.1:p.Gln666Arg missense NM_001408439.1:c.1997A>G NP_001395368.1:p.Gln666Arg missense NM_001408440.1:c.1997A>G NP_001395369.1:p.Gln666Arg missense NM_001408441.1:c.1997A>G NP_001395370.1:p.Gln666Arg missense NM_001408442.1:c.1997A>G NP_001395371.1:p.Gln666Arg missense NM_001408443.1:c.1997A>G NP_001395372.1:p.Gln666Arg missense NM_001408444.1:c.1997A>G NP_001395373.1:p.Gln666Arg missense NM_001408445.1:c.1994A>G NP_001395374.1:p.Gln665Arg missense NM_001408446.1:c.1994A>G NP_001395375.1:p.Gln665Arg missense NM_001408447.1:c.1994A>G NP_001395376.1:p.Gln665Arg missense NM_001408448.1:c.1994A>G NP_001395377.1:p.Gln665Arg missense NM_001408450.1:c.1994A>G NP_001395379.1:p.Gln665Arg missense NM_001408451.1:c.1988A>G NP_001395380.1:p.Gln663Arg missense NM_001408452.1:c.1982A>G NP_001395381.1:p.Gln661Arg missense NM_001408453.1:c.1982A>G NP_001395382.1:p.Gln661Arg missense NM_001408454.1:c.1982A>G NP_001395383.1:p.Gln661Arg missense NM_001408455.1:c.1982A>G NP_001395384.1:p.Gln661Arg missense NM_001408456.1:c.1982A>G NP_001395385.1:p.Gln661Arg missense NM_001408457.1:c.1982A>G NP_001395386.1:p.Gln661Arg missense NM_001408458.1:c.1979A>G NP_001395387.1:p.Gln660Arg missense NM_001408459.1:c.1979A>G NP_001395388.1:p.Gln660Arg missense NM_001408460.1:c.1979A>G NP_001395389.1:p.Gln660Arg missense NM_001408461.1:c.1979A>G NP_001395390.1:p.Gln660Arg missense NM_001408462.1:c.1979A>G NP_001395391.1:p.Gln660Arg missense NM_001408463.1:c.1979A>G NP_001395392.1:p.Gln660Arg missense NM_001408464.1:c.1979A>G NP_001395393.1:p.Gln660Arg missense NM_001408465.1:c.1979A>G NP_001395394.1:p.Gln660Arg missense NM_001408466.1:c.1979A>G NP_001395395.1:p.Gln660Arg missense NM_001408467.1:c.1979A>G NP_001395396.1:p.Gln660Arg missense NM_001408468.1:c.1976A>G NP_001395397.1:p.Gln659Arg missense NM_001408469.1:c.1976A>G NP_001395398.1:p.Gln659Arg missense NM_001408470.1:c.1976A>G NP_001395399.1:p.Gln659Arg missense NM_001408472.1:c.2046A>G NP_001395401.1:p.Ala682= synonymous NM_001408473.1:c.2043A>G NP_001395402.1:p.Ala681= synonymous NM_001408474.1:c.1922A>G NP_001395403.1:p.Gln641Arg missense NM_001408475.1:c.1919A>G NP_001395404.1:p.Gln640Arg missense NM_001408476.1:c.1919A>G NP_001395405.1:p.Gln640Arg missense NM_001408478.1:c.1913A>G NP_001395407.1:p.Gln638Arg missense NM_001408479.1:c.1913A>G NP_001395408.1:p.Gln638Arg missense NM_001408480.1:c.1913A>G NP_001395409.1:p.Gln638Arg missense NM_001408481.1:c.1910A>G NP_001395410.1:p.Gln637Arg missense NM_001408482.1:c.1910A>G NP_001395411.1:p.Gln637Arg missense NM_001408483.1:c.1910A>G NP_001395412.1:p.Gln637Arg missense NM_001408484.1:c.1910A>G NP_001395413.1:p.Gln637Arg missense NM_001408485.1:c.1910A>G NP_001395414.1:p.Gln637Arg missense NM_001408489.1:c.1910A>G NP_001395418.1:p.Gln637Arg missense NM_001408490.1:c.1910A>G NP_001395419.1:p.Gln637Arg missense NM_001408491.1:c.1910A>G NP_001395420.1:p.Gln637Arg missense NM_001408492.1:c.1907A>G NP_001395421.1:p.Gln636Arg missense NM_001408493.1:c.1907A>G NP_001395422.1:p.Gln636Arg missense NM_001408494.1:c.1883A>G NP_001395423.1:p.Gln628Arg missense NM_001408495.1:c.1877A>G NP_001395424.1:p.Gln626Arg missense NM_001408496.1:c.1859A>G NP_001395425.1:p.Gln620Arg missense NM_001408497.1:c.1859A>G NP_001395426.1:p.Gln620Arg missense NM_001408498.1:c.1859A>G NP_001395427.1:p.Gln620Arg missense NM_001408499.1:c.1859A>G NP_001395428.1:p.Gln620Arg missense NM_001408500.1:c.1859A>G NP_001395429.1:p.Gln620Arg missense NM_001408501.1:c.1859A>G NP_001395430.1:p.Gln620Arg missense NM_001408502.1:c.1856A>G NP_001395431.1:p.Gln619Arg missense NM_001408503.1:c.1856A>G NP_001395432.1:p.Gln619Arg missense NM_001408504.1:c.1856A>G NP_001395433.1:p.Gln619Arg missense NM_001408505.1:c.1853A>G NP_001395434.1:p.Gln618Arg missense NM_001408506.1:c.1796A>G NP_001395435.1:p.Gln599Arg missense NM_001408507.1:c.1793A>G NP_001395436.1:p.Gln598Arg missense NM_001408508.1:c.1784A>G NP_001395437.1:p.Gln595Arg missense NM_001408509.1:c.1781A>G NP_001395438.1:p.Gln594Arg missense NM_001408510.1:c.1742A>G NP_001395439.1:p.Gln581Arg missense NM_001408511.1:c.1739A>G NP_001395440.1:p.Gln580Arg missense NM_001408512.1:c.1619A>G NP_001395441.1:p.Gln540Arg missense NM_001408513.1:c.1592A>G NP_001395442.1:p.Gln531Arg missense NM_001408514.1:c.1196A>G NP_001395443.1:p.Gln399Arg missense NM_007297.4:c.5291A>G NP_009228.2:p.Gln1764Arg missense NM_007298.4:c.2120A>G NP_009229.2:p.Gln707Arg missense NM_007299.4:c.2046A>G NP_009230.2:p.Ala682= synonymous NM_007300.4:c.5495A>G NP_009231.2:p.Gln1832Arg missense NM_007304.2:c.2120A>G NP_009235.2:p.Gln707Arg missense NR_027676.2:n.5609A>G NC_000017.11:g.43047678T>C NC_000017.10:g.41199695T>C NG_005905.2:g.170306A>G LRG_292:g.170306A>G LRG_292t1:c.5432A>G LRG_292p1:p.Gln1811Arg U14680.1:n.5551A>G - Protein change
- Q1811R, Q707R, Q1832R, Q1764R, Q1642R, Q1684R, Q1699R, Q1721R, Q1740R, Q1784R, Q1810R, Q531R, Q595R, Q636R, Q637R, Q660R, Q730R, Q1515R, Q1682R, Q1683R, Q1698R, Q1700R, Q1722R, Q1743R, Q1744R, Q1763R, Q1769R, Q1783R, Q1791R, Q1807R, Q1808R, Q1809R, Q1833R, Q399R, Q580R, Q598R, Q620R, Q626R, Q628R, Q641R, Q663R, Q669R, Q681R, Q682R, Q704R, Q943R, Q1514R, Q1741R, Q1768R, Q1785R, Q540R, Q594R, Q618R, Q619R, Q638R, Q659R, Q661R, Q666R, Q667R, Q668R, Q705R, Q706R, Q942R, Q1657R, Q1723R, Q1727R, Q1739R, Q1742R, Q1762R, Q1767R, Q1770R, Q1792R, Q1806R, Q1831R, Q581R, Q599R, Q640R, Q665R, Q683R, Q708R, Q729R
- Other names
- p.Q1811R:CAG>CGG
- 5551A>G
- Canonical SPDI
- NC_000017.11:43047677:T:C
-
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.5432A>G, a MISSENSE variant, produced a function score of -1.71, 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.
-
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 | 14565 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Likely pathogenic (1) |
criteria provided, single submitter
|
Oct 25, 2023 | RCV000048993.9 | |
Likely pathogenic (4) |
criteria provided, single submitter
|
Apr 10, 2023 | RCV000077623.7 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Oct 20, 2023 | RCV000195396.9 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Oct 2, 2019 | RCV000165979.4 |
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
(Oct 02, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000216737.5
First in ClinVar: Mar 24, 2015 Last updated: Nov 29, 2022 |
Comment:
The p.Q1811R variant (also known as c.5432A>G), located in coding exon 21 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.Q1811R variant (also known as c.5432A>G), located in coding exon 21 of the BRCA1 gene, results from an A to G substitution at nucleotide position 5432. The glutamine at codon 1811 is replaced by arginine, an amino acid with highly similar properties. Functional assays show that this variant is non-functional in multiple assays including a haploid cell survival assay, a yeast cell growth assay, a transcription activation assay and a protein folding assay (Findlay GM et al. Nature, 2018 10;562:217-222; Carvalho MA et al. Cancer Biol. Ther.;1:502-8; Lee MS et al. Cancer Res., 2010 Jun;70:4880-90). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. This alteration occurs in many individuals with multifocal, bilateral and triple-negative breast cancer (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
Number of individuals with the variant: 1
|
|
Likely pathogenic
(Oct 25, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210220.13
First in ClinVar: Feb 24, 2015 Last updated: Nov 25, 2023 |
Comment:
Published functional studies support a damaging effect: Reduced binding activity and specificity, and severely defective transcriptional activity, homology directed DNA repair, nuclear localization, and folding, … (more)
Published functional studies support a damaging effect: Reduced binding activity and specificity, and severely defective transcriptional activity, homology directed DNA repair, nuclear localization, and folding, and was classified as non-functional based on a saturation genome editing (SGE) assay measuring cell survival (PMID: 20516115, 28781887, 30209399, 30257991, 35665744, 35196514); Identified in individuals referred for multi-gene panel testing with personal or family history of cancer (PMID: 31853058); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 5551A>G; This variant is associated with the following publications: (PMID: 10946236, 30257991, 12496477, 15235020, 15172985, 14534301, 28781887, 30209399, 17305420, 20516115, 25348405, 37718511, 30765603, 35665744, 29884841, 31086113, 35196514, 31853058) (less)
|
|
Likely pathogenic
(Apr 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215166.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Likely pathogenic
(Oct 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000077006.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1811 of the BRCA1 protein (p.Gln1811Arg). … (more)
This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1811 of the BRCA1 protein (p.Gln1811Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 10923033, 21520333). ClinVar contains an entry for this variant (Variation ID: 55578). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 12496477, 20516115, 28781887, 30209399, 30765603). 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. (less)
|
|
Uncertain significance
(Nov 30, 1998)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145513.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
|
Uncertain significance
(Jun 05, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109426.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
|
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: SCV001243318.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.71150218576215
|
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: SCV001243318.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5432A>G, a MISSENSE variant, produced a function score of -1.71, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5432A>G, a MISSENSE variant, produced a function score of -1.71, 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 |
---|---|---|---|---|
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | Lee MS | Cancer research | 2010 | PMID: 20516115 |
Functional impact of missense variants in BRCA1 predicted by supervised learning. | Karchin R | PLoS computational biology | 2007 | PMID: 17305420 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | Mirkovic N | Cancer research | 2004 | PMID: 15172985 |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. | Williams RS | The Journal of biological chemistry | 2003 | PMID: 14534301 |
Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation. | Carvalho MA | Cancer biology & therapy | 2002 | PMID: 12496477 |
The BRCA1 C-terminal domain: structure and function. | Huyton T | Mutation research | 2000 | PMID: 10946236 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs80357040 ...
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.