ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5272A>G (p.Arg1758Gly)
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.5272A>G (p.Arg1758Gly)
Variation ID: 656220 Accession: VCV000656220.12
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43057057 (GRCh38) [ NCBI UCSC ] 17: 41209074 (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 Aug 14, 2019 May 1, 2024 Aug 26, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5272A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1758Gly missense NM_001407571.1:c.5059A>G NP_001394500.1:p.Arg1687Gly missense NM_001407581.1:c.5338A>G NP_001394510.1:p.Arg1780Gly missense NM_001407582.1:c.5338A>G NP_001394511.1:p.Arg1780Gly missense NM_001407583.1:c.5335A>G NP_001394512.1:p.Arg1779Gly missense NM_001407585.1:c.5335A>G NP_001394514.1:p.Arg1779Gly missense NM_001407587.1:c.5335A>G NP_001394516.1:p.Arg1779Gly missense NM_001407590.1:c.5332A>G NP_001394519.1:p.Arg1778Gly missense NM_001407591.1:c.5332A>G NP_001394520.1:p.Arg1778Gly missense NM_001407593.1:c.5272A>G NP_001394522.1:p.Arg1758Gly missense NM_001407594.1:c.5272A>G NP_001394523.1:p.Arg1758Gly missense NM_001407596.1:c.5272A>G NP_001394525.1:p.Arg1758Gly missense NM_001407597.1:c.5272A>G NP_001394526.1:p.Arg1758Gly missense NM_001407598.1:c.5272A>G NP_001394527.1:p.Arg1758Gly missense NM_001407602.1:c.5272A>G NP_001394531.1:p.Arg1758Gly missense NM_001407603.1:c.5272A>G NP_001394532.1:p.Arg1758Gly missense NM_001407605.1:c.5272A>G NP_001394534.1:p.Arg1758Gly missense NM_001407610.1:c.5269A>G NP_001394539.1:p.Arg1757Gly missense NM_001407611.1:c.5269A>G NP_001394540.1:p.Arg1757Gly missense NM_001407612.1:c.5269A>G NP_001394541.1:p.Arg1757Gly missense NM_001407613.1:c.5269A>G NP_001394542.1:p.Arg1757Gly missense NM_001407614.1:c.5269A>G NP_001394543.1:p.Arg1757Gly missense NM_001407615.1:c.5269A>G NP_001394544.1:p.Arg1757Gly missense NM_001407616.1:c.5269A>G NP_001394545.1:p.Arg1757Gly missense NM_001407617.1:c.5269A>G NP_001394546.1:p.Arg1757Gly missense NM_001407618.1:c.5269A>G NP_001394547.1:p.Arg1757Gly missense NM_001407619.1:c.5269A>G NP_001394548.1:p.Arg1757Gly missense NM_001407620.1:c.5269A>G NP_001394549.1:p.Arg1757Gly missense NM_001407621.1:c.5269A>G NP_001394550.1:p.Arg1757Gly missense NM_001407622.1:c.5269A>G NP_001394551.1:p.Arg1757Gly missense NM_001407623.1:c.5269A>G NP_001394552.1:p.Arg1757Gly missense NM_001407624.1:c.5269A>G NP_001394553.1:p.Arg1757Gly missense NM_001407625.1:c.5269A>G NP_001394554.1:p.Arg1757Gly missense NM_001407626.1:c.5269A>G NP_001394555.1:p.Arg1757Gly missense NM_001407627.1:c.5266A>G NP_001394556.1:p.Arg1756Gly missense NM_001407628.1:c.5266A>G NP_001394557.1:p.Arg1756Gly missense NM_001407629.1:c.5266A>G NP_001394558.1:p.Arg1756Gly missense NM_001407630.1:c.5266A>G NP_001394559.1:p.Arg1756Gly missense NM_001407631.1:c.5266A>G NP_001394560.1:p.Arg1756Gly missense NM_001407632.1:c.5266A>G NP_001394561.1:p.Arg1756Gly missense NM_001407633.1:c.5266A>G NP_001394562.1:p.Arg1756Gly missense NM_001407634.1:c.5266A>G NP_001394563.1:p.Arg1756Gly missense NM_001407635.1:c.5266A>G NP_001394564.1:p.Arg1756Gly missense NM_001407636.1:c.5266A>G NP_001394565.1:p.Arg1756Gly missense NM_001407637.1:c.5266A>G NP_001394566.1:p.Arg1756Gly missense NM_001407638.1:c.5266A>G NP_001394567.1:p.Arg1756Gly missense NM_001407639.1:c.5266A>G NP_001394568.1:p.Arg1756Gly missense NM_001407640.1:c.5266A>G NP_001394569.1:p.Arg1756Gly missense NM_001407641.1:c.5266A>G NP_001394570.1:p.Arg1756Gly missense NM_001407642.1:c.5266A>G NP_001394571.1:p.Arg1756Gly missense NM_001407644.1:c.5263A>G NP_001394573.1:p.Arg1755Gly missense NM_001407645.1:c.5263A>G NP_001394574.1:p.Arg1755Gly missense NM_001407646.1:c.5260A>G NP_001394575.1:p.Arg1754Gly missense NM_001407647.1:c.5257A>G NP_001394576.1:p.Arg1753Gly missense NM_001407648.1:c.5215A>G NP_001394577.1:p.Arg1739Gly missense NM_001407649.1:c.5212A>G NP_001394578.1:p.Arg1738Gly missense NM_001407652.1:c.5194A>G NP_001394581.1:p.Arg1732Gly missense NM_001407653.1:c.5194A>G NP_001394582.1:p.Arg1732Gly missense NM_001407654.1:c.5194A>G NP_001394583.1:p.Arg1732Gly missense NM_001407655.1:c.5194A>G NP_001394584.1:p.Arg1732Gly missense NM_001407656.1:c.5191A>G NP_001394585.1:p.Arg1731Gly missense NM_001407657.1:c.5191A>G NP_001394586.1:p.Arg1731Gly missense NM_001407658.1:c.5191A>G NP_001394587.1:p.Arg1731Gly missense NM_001407659.1:c.5188A>G NP_001394588.1:p.Arg1730Gly missense NM_001407660.1:c.5188A>G NP_001394589.1:p.Arg1730Gly missense NM_001407661.1:c.5188A>G NP_001394590.1:p.Arg1730Gly missense NM_001407662.1:c.5188A>G NP_001394591.1:p.Arg1730Gly missense NM_001407663.1:c.5188A>G NP_001394592.1:p.Arg1730Gly missense NM_001407664.1:c.5149A>G NP_001394593.1:p.Arg1717Gly missense NM_001407665.1:c.5149A>G NP_001394594.1:p.Arg1717Gly missense NM_001407666.1:c.5149A>G NP_001394595.1:p.Arg1717Gly missense NM_001407667.1:c.5149A>G NP_001394596.1:p.Arg1717Gly missense NM_001407668.1:c.5149A>G NP_001394597.1:p.Arg1717Gly missense NM_001407669.1:c.5149A>G NP_001394598.1:p.Arg1717Gly missense NM_001407670.1:c.5146A>G NP_001394599.1:p.Arg1716Gly missense NM_001407671.1:c.5146A>G NP_001394600.1:p.Arg1716Gly missense NM_001407672.1:c.5146A>G NP_001394601.1:p.Arg1716Gly missense NM_001407673.1:c.5146A>G NP_001394602.1:p.Arg1716Gly missense NM_001407674.1:c.5146A>G NP_001394603.1:p.Arg1716Gly missense NM_001407675.1:c.5146A>G NP_001394604.1:p.Arg1716Gly missense NM_001407676.1:c.5146A>G NP_001394605.1:p.Arg1716Gly missense NM_001407677.1:c.5146A>G NP_001394606.1:p.Arg1716Gly missense NM_001407678.1:c.5146A>G NP_001394607.1:p.Arg1716Gly missense NM_001407679.1:c.5146A>G NP_001394608.1:p.Arg1716Gly missense NM_001407680.1:c.5146A>G NP_001394609.1:p.Arg1716Gly missense NM_001407681.1:c.5143A>G NP_001394610.1:p.Arg1715Gly missense NM_001407682.1:c.5143A>G NP_001394611.1:p.Arg1715Gly missense NM_001407683.1:c.5143A>G NP_001394612.1:p.Arg1715Gly missense NM_001407684.1:c.5272A>G NP_001394613.1:p.Arg1758Gly missense NM_001407685.1:c.5143A>G NP_001394614.1:p.Arg1715Gly missense NM_001407686.1:c.5143A>G NP_001394615.1:p.Arg1715Gly missense NM_001407687.1:c.5143A>G NP_001394616.1:p.Arg1715Gly missense NM_001407688.1:c.5143A>G NP_001394617.1:p.Arg1715Gly missense NM_001407689.1:c.5143A>G NP_001394618.1:p.Arg1715Gly missense NM_001407690.1:c.5140A>G NP_001394619.1:p.Arg1714Gly missense NM_001407691.1:c.5140A>G NP_001394620.1:p.Arg1714Gly missense NM_001407692.1:c.5131A>G NP_001394621.1:p.Arg1711Gly missense NM_001407694.1:c.5131A>G NP_001394623.1:p.Arg1711Gly missense NM_001407695.1:c.5131A>G NP_001394624.1:p.Arg1711Gly missense NM_001407696.1:c.5131A>G NP_001394625.1:p.Arg1711Gly missense NM_001407697.1:c.5131A>G NP_001394626.1:p.Arg1711Gly missense NM_001407698.1:c.5131A>G NP_001394627.1:p.Arg1711Gly missense NM_001407724.1:c.5131A>G NP_001394653.1:p.Arg1711Gly missense NM_001407725.1:c.5131A>G NP_001394654.1:p.Arg1711Gly missense NM_001407726.1:c.5131A>G NP_001394655.1:p.Arg1711Gly missense NM_001407727.1:c.5131A>G NP_001394656.1:p.Arg1711Gly missense NM_001407728.1:c.5131A>G NP_001394657.1:p.Arg1711Gly missense NM_001407729.1:c.5131A>G NP_001394658.1:p.Arg1711Gly missense NM_001407730.1:c.5131A>G NP_001394659.1:p.Arg1711Gly missense NM_001407731.1:c.5131A>G NP_001394660.1:p.Arg1711Gly missense NM_001407732.1:c.5128A>G NP_001394661.1:p.Arg1710Gly missense NM_001407733.1:c.5128A>G NP_001394662.1:p.Arg1710Gly missense NM_001407734.1:c.5128A>G NP_001394663.1:p.Arg1710Gly missense NM_001407735.1:c.5128A>G NP_001394664.1:p.Arg1710Gly missense NM_001407736.1:c.5128A>G NP_001394665.1:p.Arg1710Gly missense NM_001407737.1:c.5128A>G NP_001394666.1:p.Arg1710Gly missense NM_001407738.1:c.5128A>G NP_001394667.1:p.Arg1710Gly missense NM_001407739.1:c.5128A>G NP_001394668.1:p.Arg1710Gly missense NM_001407740.1:c.5128A>G NP_001394669.1:p.Arg1710Gly missense NM_001407741.1:c.5128A>G NP_001394670.1:p.Arg1710Gly missense NM_001407742.1:c.5128A>G NP_001394671.1:p.Arg1710Gly missense NM_001407743.1:c.5128A>G NP_001394672.1:p.Arg1710Gly missense NM_001407744.1:c.5128A>G NP_001394673.1:p.Arg1710Gly missense NM_001407745.1:c.5128A>G NP_001394674.1:p.Arg1710Gly missense NM_001407746.1:c.5128A>G NP_001394675.1:p.Arg1710Gly missense NM_001407747.1:c.5128A>G NP_001394676.1:p.Arg1710Gly missense NM_001407748.1:c.5128A>G NP_001394677.1:p.Arg1710Gly missense NM_001407749.1:c.5128A>G NP_001394678.1:p.Arg1710Gly missense NM_001407750.1:c.5128A>G NP_001394679.1:p.Arg1710Gly missense NM_001407751.1:c.5128A>G NP_001394680.1:p.Arg1710Gly missense NM_001407752.1:c.5128A>G NP_001394681.1:p.Arg1710Gly missense NM_001407838.1:c.5125A>G NP_001394767.1:p.Arg1709Gly missense NM_001407839.1:c.5125A>G NP_001394768.1:p.Arg1709Gly missense NM_001407841.1:c.5125A>G NP_001394770.1:p.Arg1709Gly missense NM_001407842.1:c.5125A>G NP_001394771.1:p.Arg1709Gly missense NM_001407843.1:c.5125A>G NP_001394772.1:p.Arg1709Gly missense NM_001407844.1:c.5125A>G NP_001394773.1:p.Arg1709Gly missense NM_001407845.1:c.5125A>G NP_001394774.1:p.Arg1709Gly missense NM_001407846.1:c.5125A>G NP_001394775.1:p.Arg1709Gly missense NM_001407847.1:c.5125A>G NP_001394776.1:p.Arg1709Gly missense NM_001407848.1:c.5125A>G NP_001394777.1:p.Arg1709Gly missense NM_001407849.1:c.5125A>G NP_001394778.1:p.Arg1709Gly missense NM_001407850.1:c.5125A>G NP_001394779.1:p.Arg1709Gly missense NM_001407851.1:c.5125A>G NP_001394780.1:p.Arg1709Gly missense NM_001407852.1:c.5125A>G NP_001394781.1:p.Arg1709Gly missense NM_001407853.1:c.5125A>G NP_001394782.1:p.Arg1709Gly missense NM_001407854.1:c.5272A>G NP_001394783.1:p.Arg1758Gly missense NM_001407858.1:c.5269A>G NP_001394787.1:p.Arg1757Gly missense NM_001407859.1:c.5269A>G NP_001394788.1:p.Arg1757Gly missense NM_001407860.1:c.5269A>G NP_001394789.1:p.Arg1757Gly missense NM_001407861.1:c.5266A>G NP_001394790.1:p.Arg1756Gly missense NM_001407862.1:c.5071A>G NP_001394791.1:p.Arg1691Gly missense NM_001407863.1:c.5068A>G NP_001394792.1:p.Arg1690Gly missense NM_001407874.1:c.5065A>G NP_001394803.1:p.Arg1689Gly missense NM_001407875.1:c.5065A>G NP_001394804.1:p.Arg1689Gly missense NM_001407879.1:c.5062A>G NP_001394808.1:p.Arg1688Gly missense NM_001407881.1:c.5062A>G NP_001394810.1:p.Arg1688Gly missense NM_001407882.1:c.5062A>G NP_001394811.1:p.Arg1688Gly missense NM_001407884.1:c.5062A>G NP_001394813.1:p.Arg1688Gly missense NM_001407885.1:c.5062A>G NP_001394814.1:p.Arg1688Gly missense NM_001407886.1:c.5062A>G NP_001394815.1:p.Arg1688Gly missense NM_001407887.1:c.5062A>G NP_001394816.1:p.Arg1688Gly missense NM_001407889.1:c.5062A>G NP_001394818.1:p.Arg1688Gly missense NM_001407894.1:c.5059A>G NP_001394823.1:p.Arg1687Gly missense NM_001407895.1:c.5059A>G NP_001394824.1:p.Arg1687Gly missense NM_001407896.1:c.5059A>G NP_001394825.1:p.Arg1687Gly missense NM_001407897.1:c.5059A>G NP_001394826.1:p.Arg1687Gly missense NM_001407898.1:c.5059A>G NP_001394827.1:p.Arg1687Gly missense NM_001407899.1:c.5059A>G NP_001394828.1:p.Arg1687Gly missense NM_001407900.1:c.5059A>G NP_001394829.1:p.Arg1687Gly missense NM_001407902.1:c.5059A>G NP_001394831.1:p.Arg1687Gly missense NM_001407904.1:c.5059A>G NP_001394833.1:p.Arg1687Gly missense NM_001407906.1:c.5059A>G NP_001394835.1:p.Arg1687Gly missense NM_001407907.1:c.5059A>G NP_001394836.1:p.Arg1687Gly missense NM_001407908.1:c.5059A>G NP_001394837.1:p.Arg1687Gly missense NM_001407909.1:c.5059A>G NP_001394838.1:p.Arg1687Gly missense NM_001407910.1:c.5059A>G NP_001394839.1:p.Arg1687Gly missense NM_001407915.1:c.5056A>G NP_001394844.1:p.Arg1686Gly missense NM_001407916.1:c.5056A>G NP_001394845.1:p.Arg1686Gly missense NM_001407917.1:c.5056A>G NP_001394846.1:p.Arg1686Gly missense NM_001407918.1:c.5056A>G NP_001394847.1:p.Arg1686Gly missense NM_001407919.1:c.5149A>G NP_001394848.1:p.Arg1717Gly missense NM_001407920.1:c.5008A>G NP_001394849.1:p.Arg1670Gly missense NM_001407921.1:c.5008A>G NP_001394850.1:p.Arg1670Gly missense NM_001407922.1:c.5008A>G NP_001394851.1:p.Arg1670Gly missense NM_001407923.1:c.5008A>G NP_001394852.1:p.Arg1670Gly missense NM_001407924.1:c.5008A>G NP_001394853.1:p.Arg1670Gly missense NM_001407925.1:c.5008A>G NP_001394854.1:p.Arg1670Gly missense NM_001407926.1:c.5008A>G NP_001394855.1:p.Arg1670Gly missense NM_001407927.1:c.5005A>G NP_001394856.1:p.Arg1669Gly missense NM_001407928.1:c.5005A>G NP_001394857.1:p.Arg1669Gly missense NM_001407929.1:c.5005A>G NP_001394858.1:p.Arg1669Gly missense NM_001407930.1:c.5005A>G NP_001394859.1:p.Arg1669Gly missense NM_001407931.1:c.5005A>G NP_001394860.1:p.Arg1669Gly missense NM_001407932.1:c.5005A>G NP_001394861.1:p.Arg1669Gly missense NM_001407933.1:c.5005A>G NP_001394862.1:p.Arg1669Gly missense NM_001407934.1:c.5002A>G NP_001394863.1:p.Arg1668Gly missense NM_001407935.1:c.5002A>G NP_001394864.1:p.Arg1668Gly missense NM_001407936.1:c.5002A>G NP_001394865.1:p.Arg1668Gly missense NM_001407937.1:c.5149A>G NP_001394866.1:p.Arg1717Gly missense NM_001407938.1:c.5149A>G NP_001394867.1:p.Arg1717Gly missense NM_001407939.1:c.5146A>G NP_001394868.1:p.Arg1716Gly missense NM_001407940.1:c.5146A>G NP_001394869.1:p.Arg1716Gly missense NM_001407941.1:c.5143A>G NP_001394870.1:p.Arg1715Gly missense NM_001407942.1:c.5131A>G NP_001394871.1:p.Arg1711Gly missense NM_001407943.1:c.5128A>G NP_001394872.1:p.Arg1710Gly missense NM_001407944.1:c.5128A>G NP_001394873.1:p.Arg1710Gly missense NM_001407945.1:c.5128A>G NP_001394874.1:p.Arg1710Gly missense NM_001407946.1:c.4939A>G NP_001394875.1:p.Arg1647Gly missense NM_001407947.1:c.4939A>G NP_001394876.1:p.Arg1647Gly missense NM_001407948.1:c.4939A>G NP_001394877.1:p.Arg1647Gly missense NM_001407949.1:c.4939A>G NP_001394878.1:p.Arg1647Gly missense NM_001407950.1:c.4936A>G NP_001394879.1:p.Arg1646Gly missense NM_001407951.1:c.4936A>G NP_001394880.1:p.Arg1646Gly missense NM_001407952.1:c.4936A>G NP_001394881.1:p.Arg1646Gly missense NM_001407953.1:c.4936A>G NP_001394882.1:p.Arg1646Gly missense NM_001407954.1:c.4936A>G NP_001394883.1:p.Arg1646Gly missense NM_001407955.1:c.4936A>G NP_001394884.1:p.Arg1646Gly missense NM_001407956.1:c.4933A>G NP_001394885.1:p.Arg1645Gly missense NM_001407957.1:c.4933A>G NP_001394886.1:p.Arg1645Gly missense NM_001407958.1:c.4933A>G NP_001394887.1:p.Arg1645Gly missense NM_001407959.1:c.4891A>G NP_001394888.1:p.Arg1631Gly missense NM_001407960.1:c.4888A>G NP_001394889.1:p.Arg1630Gly missense NM_001407962.1:c.4888A>G NP_001394891.1:p.Arg1630Gly missense NM_001407963.1:c.4885A>G NP_001394892.1:p.Arg1629Gly missense NM_001407964.1:c.4810A>G NP_001394893.1:p.Arg1604Gly missense NM_001407965.1:c.4765A>G NP_001394894.1:p.Arg1589Gly missense NM_001407966.1:c.4384A>G NP_001394895.1:p.Arg1462Gly missense NM_001407967.1:c.4381A>G NP_001394896.1:p.Arg1461Gly missense NM_001407968.1:c.2668A>G NP_001394897.1:p.Arg890Gly missense NM_001407969.1:c.2665A>G NP_001394898.1:p.Arg889Gly missense NM_001407970.1:c.2029A>G NP_001394899.1:p.Arg677Gly missense NM_001407971.1:c.2029A>G NP_001394900.1:p.Arg677Gly missense NM_001407972.1:c.2026A>G NP_001394901.1:p.Arg676Gly missense NM_001407973.1:c.1963A>G NP_001394902.1:p.Arg655Gly missense NM_001407974.1:c.1963A>G NP_001394903.1:p.Arg655Gly missense NM_001407975.1:c.1963A>G NP_001394904.1:p.Arg655Gly missense NM_001407976.1:c.1963A>G NP_001394905.1:p.Arg655Gly missense NM_001407977.1:c.1963A>G NP_001394906.1:p.Arg655Gly missense NM_001407978.1:c.1963A>G NP_001394907.1:p.Arg655Gly missense NM_001407979.1:c.1960A>G NP_001394908.1:p.Arg654Gly missense NM_001407980.1:c.1960A>G NP_001394909.1:p.Arg654Gly missense NM_001407981.1:c.1960A>G NP_001394910.1:p.Arg654Gly missense NM_001407982.1:c.1960A>G NP_001394911.1:p.Arg654Gly missense NM_001407983.1:c.1960A>G NP_001394912.1:p.Arg654Gly missense NM_001407984.1:c.1960A>G NP_001394913.1:p.Arg654Gly missense NM_001407985.1:c.1960A>G NP_001394914.1:p.Arg654Gly missense NM_001407986.1:c.1960A>G NP_001394915.1:p.Arg654Gly missense NM_001407990.1:c.1960A>G NP_001394919.1:p.Arg654Gly missense NM_001407991.1:c.1960A>G NP_001394920.1:p.Arg654Gly missense NM_001407992.1:c.1960A>G NP_001394921.1:p.Arg654Gly missense NM_001407993.1:c.1960A>G NP_001394922.1:p.Arg654Gly missense NM_001408392.1:c.1957A>G NP_001395321.1:p.Arg653Gly missense NM_001408396.1:c.1957A>G NP_001395325.1:p.Arg653Gly missense NM_001408397.1:c.1957A>G NP_001395326.1:p.Arg653Gly missense NM_001408398.1:c.1957A>G NP_001395327.1:p.Arg653Gly missense NM_001408399.1:c.1957A>G NP_001395328.1:p.Arg653Gly missense NM_001408400.1:c.1957A>G NP_001395329.1:p.Arg653Gly missense NM_001408401.1:c.1957A>G NP_001395330.1:p.Arg653Gly missense NM_001408402.1:c.1957A>G NP_001395331.1:p.Arg653Gly missense NM_001408403.1:c.1957A>G NP_001395332.1:p.Arg653Gly missense NM_001408404.1:c.1957A>G NP_001395333.1:p.Arg653Gly missense NM_001408406.1:c.1954A>G NP_001395335.1:p.Arg652Gly missense NM_001408407.1:c.1954A>G NP_001395336.1:p.Arg652Gly missense NM_001408408.1:c.1954A>G NP_001395337.1:p.Arg652Gly missense NM_001408409.1:c.1951A>G NP_001395338.1:p.Arg651Gly missense NM_001408410.1:c.1888A>G NP_001395339.1:p.Arg630Gly missense NM_001408411.1:c.1885A>G NP_001395340.1:p.Arg629Gly missense NM_001408412.1:c.1882A>G NP_001395341.1:p.Arg628Gly missense NM_001408413.1:c.1882A>G NP_001395342.1:p.Arg628Gly missense NM_001408414.1:c.1882A>G NP_001395343.1:p.Arg628Gly missense NM_001408415.1:c.1882A>G NP_001395344.1:p.Arg628Gly missense NM_001408416.1:c.1882A>G NP_001395345.1:p.Arg628Gly missense NM_001408418.1:c.1846A>G NP_001395347.1:p.Arg616Gly missense NM_001408419.1:c.1846A>G NP_001395348.1:p.Arg616Gly missense NM_001408420.1:c.1846A>G NP_001395349.1:p.Arg616Gly missense NM_001408421.1:c.1843A>G NP_001395350.1:p.Arg615Gly missense NM_001408422.1:c.1843A>G NP_001395351.1:p.Arg615Gly missense NM_001408423.1:c.1843A>G NP_001395352.1:p.Arg615Gly missense NM_001408424.1:c.1843A>G NP_001395353.1:p.Arg615Gly missense NM_001408425.1:c.1840A>G NP_001395354.1:p.Arg614Gly missense NM_001408426.1:c.1840A>G NP_001395355.1:p.Arg614Gly missense NM_001408427.1:c.1840A>G NP_001395356.1:p.Arg614Gly missense NM_001408428.1:c.1840A>G NP_001395357.1:p.Arg614Gly missense NM_001408429.1:c.1840A>G NP_001395358.1:p.Arg614Gly missense NM_001408430.1:c.1840A>G NP_001395359.1:p.Arg614Gly missense NM_001408431.1:c.1840A>G NP_001395360.1:p.Arg614Gly missense NM_001408432.1:c.1837A>G NP_001395361.1:p.Arg613Gly missense NM_001408433.1:c.1837A>G NP_001395362.1:p.Arg613Gly missense NM_001408434.1:c.1837A>G NP_001395363.1:p.Arg613Gly missense NM_001408435.1:c.1837A>G NP_001395364.1:p.Arg613Gly missense NM_001408436.1:c.1837A>G NP_001395365.1:p.Arg613Gly missense NM_001408437.1:c.1837A>G NP_001395366.1:p.Arg613Gly missense NM_001408438.1:c.1837A>G NP_001395367.1:p.Arg613Gly missense NM_001408439.1:c.1837A>G NP_001395368.1:p.Arg613Gly missense NM_001408440.1:c.1837A>G NP_001395369.1:p.Arg613Gly missense NM_001408441.1:c.1837A>G NP_001395370.1:p.Arg613Gly missense NM_001408442.1:c.1837A>G NP_001395371.1:p.Arg613Gly missense NM_001408443.1:c.1837A>G NP_001395372.1:p.Arg613Gly missense NM_001408444.1:c.1837A>G NP_001395373.1:p.Arg613Gly missense NM_001408445.1:c.1834A>G NP_001395374.1:p.Arg612Gly missense NM_001408446.1:c.1834A>G NP_001395375.1:p.Arg612Gly missense NM_001408447.1:c.1834A>G NP_001395376.1:p.Arg612Gly missense NM_001408448.1:c.1834A>G NP_001395377.1:p.Arg612Gly missense NM_001408450.1:c.1834A>G NP_001395379.1:p.Arg612Gly missense NM_001408451.1:c.1828A>G NP_001395380.1:p.Arg610Gly missense NM_001408452.1:c.1822A>G NP_001395381.1:p.Arg608Gly missense NM_001408453.1:c.1822A>G NP_001395382.1:p.Arg608Gly missense NM_001408454.1:c.1822A>G NP_001395383.1:p.Arg608Gly missense NM_001408455.1:c.1822A>G NP_001395384.1:p.Arg608Gly missense NM_001408456.1:c.1822A>G NP_001395385.1:p.Arg608Gly missense NM_001408457.1:c.1822A>G NP_001395386.1:p.Arg608Gly missense NM_001408458.1:c.1819A>G NP_001395387.1:p.Arg607Gly missense NM_001408459.1:c.1819A>G NP_001395388.1:p.Arg607Gly missense NM_001408460.1:c.1819A>G NP_001395389.1:p.Arg607Gly missense NM_001408461.1:c.1819A>G NP_001395390.1:p.Arg607Gly missense NM_001408462.1:c.1819A>G NP_001395391.1:p.Arg607Gly missense NM_001408463.1:c.1819A>G NP_001395392.1:p.Arg607Gly missense NM_001408464.1:c.1819A>G NP_001395393.1:p.Arg607Gly missense NM_001408465.1:c.1819A>G NP_001395394.1:p.Arg607Gly missense NM_001408466.1:c.1819A>G NP_001395395.1:p.Arg607Gly missense NM_001408467.1:c.1819A>G NP_001395396.1:p.Arg607Gly missense NM_001408468.1:c.1816A>G NP_001395397.1:p.Arg606Gly missense NM_001408469.1:c.1816A>G NP_001395398.1:p.Arg606Gly missense NM_001408470.1:c.1816A>G NP_001395399.1:p.Arg606Gly missense NM_001408472.1:c.1960A>G NP_001395401.1:p.Arg654Gly missense NM_001408473.1:c.1957A>G NP_001395402.1:p.Arg653Gly missense NM_001408474.1:c.1762A>G NP_001395403.1:p.Arg588Gly missense NM_001408475.1:c.1759A>G NP_001395404.1:p.Arg587Gly missense NM_001408476.1:c.1759A>G NP_001395405.1:p.Arg587Gly missense NM_001408478.1:c.1753A>G NP_001395407.1:p.Arg585Gly missense NM_001408479.1:c.1753A>G NP_001395408.1:p.Arg585Gly missense NM_001408480.1:c.1753A>G NP_001395409.1:p.Arg585Gly missense NM_001408481.1:c.1750A>G NP_001395410.1:p.Arg584Gly missense NM_001408482.1:c.1750A>G NP_001395411.1:p.Arg584Gly missense NM_001408483.1:c.1750A>G NP_001395412.1:p.Arg584Gly missense NM_001408484.1:c.1750A>G NP_001395413.1:p.Arg584Gly missense NM_001408485.1:c.1750A>G NP_001395414.1:p.Arg584Gly missense NM_001408489.1:c.1750A>G NP_001395418.1:p.Arg584Gly missense NM_001408490.1:c.1750A>G NP_001395419.1:p.Arg584Gly missense NM_001408491.1:c.1750A>G NP_001395420.1:p.Arg584Gly missense NM_001408492.1:c.1747A>G NP_001395421.1:p.Arg583Gly missense NM_001408493.1:c.1747A>G NP_001395422.1:p.Arg583Gly missense NM_001408494.1:c.1723A>G NP_001395423.1:p.Arg575Gly missense NM_001408495.1:c.1717A>G NP_001395424.1:p.Arg573Gly missense NM_001408496.1:c.1699A>G NP_001395425.1:p.Arg567Gly missense NM_001408497.1:c.1699A>G NP_001395426.1:p.Arg567Gly missense NM_001408498.1:c.1699A>G NP_001395427.1:p.Arg567Gly missense NM_001408499.1:c.1699A>G NP_001395428.1:p.Arg567Gly missense NM_001408500.1:c.1699A>G NP_001395429.1:p.Arg567Gly missense NM_001408501.1:c.1699A>G NP_001395430.1:p.Arg567Gly missense NM_001408502.1:c.1696A>G NP_001395431.1:p.Arg566Gly missense NM_001408503.1:c.1696A>G NP_001395432.1:p.Arg566Gly missense NM_001408504.1:c.1696A>G NP_001395433.1:p.Arg566Gly missense NM_001408505.1:c.1693A>G NP_001395434.1:p.Arg565Gly missense NM_001408506.1:c.1636A>G NP_001395435.1:p.Arg546Gly missense NM_001408507.1:c.1633A>G NP_001395436.1:p.Arg545Gly missense NM_001408508.1:c.1624A>G NP_001395437.1:p.Arg542Gly missense NM_001408509.1:c.1621A>G NP_001395438.1:p.Arg541Gly missense NM_001408510.1:c.1582A>G NP_001395439.1:p.Arg528Gly missense NM_001408511.1:c.1579A>G NP_001395440.1:p.Arg527Gly missense NM_001408512.1:c.1459A>G NP_001395441.1:p.Arg487Gly missense NM_001408513.1:c.1432A>G NP_001395442.1:p.Arg478Gly missense NM_001408514.1:c.1036A>G NP_001395443.1:p.Arg346Gly missense NM_007297.4:c.5131A>G NP_009228.2:p.Arg1711Gly missense NM_007298.4:c.1960A>G NP_009229.2:p.Arg654Gly missense NM_007299.4:c.1960A>G NP_009230.2:p.Arg654Gly missense NM_007300.4:c.5335A>G NP_009231.2:p.Arg1779Gly missense NM_007304.2:c.1960A>G NP_009235.2:p.Arg654Gly missense NR_027676.2:n.5449A>G non-coding transcript variant NC_000017.11:g.43057057T>C NC_000017.10:g.41209074T>C NG_005905.2:g.160927A>G LRG_292:g.160927A>G LRG_292t1:c.5272A>G LRG_292p1:p.Arg1758Gly - Protein change
- R1758G, R1711G, R1779G, R654G, R1630G, R1631G, R1646G, R1669G, R1688G, R1690G, R1709G, R1730G, R1739G, R1755G, R1757G, R546G, R566G, R567G, R573G, R583G, R585G, R587G, R607G, R612G, R613G, R614G, R629G, R651G, R677G, R1461G, R1629G, R1670G, R1689G, R1691G, R1710G, R1732G, R1778G, R478G, R487G, R528G, R542G, R628G, R630G, R890G, R1462G, R1589G, R1647G, R1687G, R1717G, R1753G, R1754G, R1756G, R1780G, R527G, R541G, R565G, R575G, R584G, R606G, R610G, R616G, R655G, R1604G, R1645G, R1668G, R1686G, R1714G, R1715G, R1716G, R1731G, R1738G, R346G, R545G, R588G, R608G, R615G, R652G, R653G, R676G, R889G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43057056:T:C
-
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.5272A>G, a MISSENSE variant, produced a function score of 0.32, 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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
- 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 |
13019 | 14822 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 26, 2021 | RCV000812583.6 | |
not provided (1) |
no classification provided
|
- | RCV001075961.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Nov 1, 2019 | RCV001023838.4 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Aug 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000952901.3
First in ClinVar: Aug 14, 2019 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces arginine with glycine at codon 1758 of the BRCA1 protein (p.Arg1758Gly). The arginine residue is weakly conserved and there is a … (more)
This sequence change replaces arginine with glycine at codon 1758 of the BRCA1 protein (p.Arg1758Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 9544765). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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)
|
|
Uncertain significance
(Nov 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001185768.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.R1758G variant (also known as c.5272A>G), located in coding exon 18 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.R1758G variant (also known as c.5272A>G), located in coding exon 18 of the BRCA1 gene, results from an A to G substitution at nucleotide position 5272. The arginine at codon 1758 is replaced by glycine, an amino acid with dissimilar properties. One functional study found that this nucleotide substitution is benign in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). This variant, designated as 5391A>G, has been reported in 2 Caucasian women with early-onset breast cancer (Newman B et al. JAMA. 1998 Mar 25;279(12):915-21). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001241622.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.315491623703113
|
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_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001241622.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5272A>G, a MISSENSE variant, produced a function score of 0.32, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5272A>G, a MISSENSE variant, produced a function score of 0.32, 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)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. | Newman B | JAMA | 1998 | PMID: 9544765 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs1597810455 ...
HelpRecord last updated Jul 15, 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.