This missense variant replaces glycine with arginine at codon 1567 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/250974 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4699G>A (p.Gly1567Arg)
Germline
Classification
Help
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.
(5)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
5
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4699G>A (p.Gly1567Arg)
Variation ID: 489723 Accession: VCV000489723.18
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071215 (GRCh38) [ NCBI UCSC ] 17: 41223232 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 19, 2018 May 1, 2024 Oct 13, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4699G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1567Arg missense NM_001407571.1:c.4486G>A NP_001394500.1:p.Gly1496Arg missense NM_001407581.1:c.4765G>A NP_001394510.1:p.Gly1589Arg missense NM_001407582.1:c.4765G>A NP_001394511.1:p.Gly1589Arg missense NM_001407583.1:c.4762G>A NP_001394512.1:p.Gly1588Arg missense NM_001407585.1:c.4762G>A NP_001394514.1:p.Gly1588Arg missense NM_001407587.1:c.4762G>A NP_001394516.1:p.Gly1588Arg missense NM_001407590.1:c.4759G>A NP_001394519.1:p.Gly1587Arg missense NM_001407591.1:c.4759G>A NP_001394520.1:p.Gly1587Arg missense NM_001407593.1:c.4699G>A NP_001394522.1:p.Gly1567Arg missense NM_001407594.1:c.4699G>A NP_001394523.1:p.Gly1567Arg missense NM_001407596.1:c.4699G>A NP_001394525.1:p.Gly1567Arg missense NM_001407597.1:c.4699G>A NP_001394526.1:p.Gly1567Arg missense NM_001407598.1:c.4699G>A NP_001394527.1:p.Gly1567Arg missense NM_001407602.1:c.4699G>A NP_001394531.1:p.Gly1567Arg missense NM_001407603.1:c.4699G>A NP_001394532.1:p.Gly1567Arg missense NM_001407605.1:c.4699G>A NP_001394534.1:p.Gly1567Arg missense NM_001407610.1:c.4696G>A NP_001394539.1:p.Gly1566Arg missense NM_001407611.1:c.4696G>A NP_001394540.1:p.Gly1566Arg missense NM_001407612.1:c.4696G>A NP_001394541.1:p.Gly1566Arg missense NM_001407613.1:c.4696G>A NP_001394542.1:p.Gly1566Arg missense NM_001407614.1:c.4696G>A NP_001394543.1:p.Gly1566Arg missense NM_001407615.1:c.4696G>A NP_001394544.1:p.Gly1566Arg missense NM_001407616.1:c.4696G>A NP_001394545.1:p.Gly1566Arg missense NM_001407617.1:c.4696G>A NP_001394546.1:p.Gly1566Arg missense NM_001407618.1:c.4696G>A NP_001394547.1:p.Gly1566Arg missense NM_001407619.1:c.4696G>A NP_001394548.1:p.Gly1566Arg missense NM_001407620.1:c.4696G>A NP_001394549.1:p.Gly1566Arg missense NM_001407621.1:c.4696G>A NP_001394550.1:p.Gly1566Arg missense NM_001407622.1:c.4696G>A NP_001394551.1:p.Gly1566Arg missense NM_001407623.1:c.4696G>A NP_001394552.1:p.Gly1566Arg missense NM_001407624.1:c.4696G>A NP_001394553.1:p.Gly1566Arg missense NM_001407625.1:c.4696G>A NP_001394554.1:p.Gly1566Arg missense NM_001407626.1:c.4696G>A NP_001394555.1:p.Gly1566Arg missense NM_001407627.1:c.4693G>A NP_001394556.1:p.Gly1565Arg missense NM_001407628.1:c.4693G>A NP_001394557.1:p.Gly1565Arg missense NM_001407629.1:c.4693G>A NP_001394558.1:p.Gly1565Arg missense NM_001407630.1:c.4693G>A NP_001394559.1:p.Gly1565Arg missense NM_001407631.1:c.4693G>A NP_001394560.1:p.Gly1565Arg missense NM_001407632.1:c.4693G>A NP_001394561.1:p.Gly1565Arg missense NM_001407633.1:c.4693G>A NP_001394562.1:p.Gly1565Arg missense NM_001407634.1:c.4693G>A NP_001394563.1:p.Gly1565Arg missense NM_001407635.1:c.4693G>A NP_001394564.1:p.Gly1565Arg missense NM_001407636.1:c.4693G>A NP_001394565.1:p.Gly1565Arg missense NM_001407637.1:c.4693G>A NP_001394566.1:p.Gly1565Arg missense NM_001407638.1:c.4693G>A NP_001394567.1:p.Gly1565Arg missense NM_001407639.1:c.4693G>A NP_001394568.1:p.Gly1565Arg missense NM_001407640.1:c.4693G>A NP_001394569.1:p.Gly1565Arg missense NM_001407641.1:c.4693G>A NP_001394570.1:p.Gly1565Arg missense NM_001407642.1:c.4693G>A NP_001394571.1:p.Gly1565Arg missense NM_001407644.1:c.4690G>A NP_001394573.1:p.Gly1564Arg missense NM_001407645.1:c.4690G>A NP_001394574.1:p.Gly1564Arg missense NM_001407646.1:c.4687G>A NP_001394575.1:p.Gly1563Arg missense NM_001407647.1:c.4684G>A NP_001394576.1:p.Gly1562Arg missense NM_001407648.1:c.4642G>A NP_001394577.1:p.Gly1548Arg missense NM_001407649.1:c.4639G>A NP_001394578.1:p.Gly1547Arg missense NM_001407652.1:c.4699G>A NP_001394581.1:p.Gly1567Arg missense NM_001407653.1:c.4621G>A NP_001394582.1:p.Gly1541Arg missense NM_001407654.1:c.4621G>A NP_001394583.1:p.Gly1541Arg missense NM_001407655.1:c.4621G>A NP_001394584.1:p.Gly1541Arg missense NM_001407656.1:c.4618G>A NP_001394585.1:p.Gly1540Arg missense NM_001407657.1:c.4618G>A NP_001394586.1:p.Gly1540Arg missense NM_001407658.1:c.4618G>A NP_001394587.1:p.Gly1540Arg missense NM_001407659.1:c.4615G>A NP_001394588.1:p.Gly1539Arg missense NM_001407660.1:c.4615G>A NP_001394589.1:p.Gly1539Arg missense NM_001407661.1:c.4615G>A NP_001394590.1:p.Gly1539Arg missense NM_001407662.1:c.4615G>A NP_001394591.1:p.Gly1539Arg missense NM_001407663.1:c.4615G>A NP_001394592.1:p.Gly1539Arg missense NM_001407664.1:c.4576G>A NP_001394593.1:p.Gly1526Arg missense NM_001407665.1:c.4576G>A NP_001394594.1:p.Gly1526Arg missense NM_001407666.1:c.4576G>A NP_001394595.1:p.Gly1526Arg missense NM_001407667.1:c.4576G>A NP_001394596.1:p.Gly1526Arg missense NM_001407668.1:c.4576G>A NP_001394597.1:p.Gly1526Arg missense NM_001407669.1:c.4576G>A NP_001394598.1:p.Gly1526Arg missense NM_001407670.1:c.4573G>A NP_001394599.1:p.Gly1525Arg missense NM_001407671.1:c.4573G>A NP_001394600.1:p.Gly1525Arg missense NM_001407672.1:c.4573G>A NP_001394601.1:p.Gly1525Arg missense NM_001407673.1:c.4573G>A NP_001394602.1:p.Gly1525Arg missense NM_001407674.1:c.4573G>A NP_001394603.1:p.Gly1525Arg missense NM_001407675.1:c.4573G>A NP_001394604.1:p.Gly1525Arg missense NM_001407676.1:c.4573G>A NP_001394605.1:p.Gly1525Arg missense NM_001407677.1:c.4573G>A NP_001394606.1:p.Gly1525Arg missense NM_001407678.1:c.4573G>A NP_001394607.1:p.Gly1525Arg missense NM_001407679.1:c.4573G>A NP_001394608.1:p.Gly1525Arg missense NM_001407680.1:c.4573G>A NP_001394609.1:p.Gly1525Arg missense NM_001407681.1:c.4570G>A NP_001394610.1:p.Gly1524Arg missense NM_001407682.1:c.4570G>A NP_001394611.1:p.Gly1524Arg missense NM_001407683.1:c.4570G>A NP_001394612.1:p.Gly1524Arg missense NM_001407684.1:c.4699G>A NP_001394613.1:p.Gly1567Arg missense NM_001407685.1:c.4570G>A NP_001394614.1:p.Gly1524Arg missense NM_001407686.1:c.4570G>A NP_001394615.1:p.Gly1524Arg missense NM_001407687.1:c.4570G>A NP_001394616.1:p.Gly1524Arg missense NM_001407688.1:c.4570G>A NP_001394617.1:p.Gly1524Arg missense NM_001407689.1:c.4570G>A NP_001394618.1:p.Gly1524Arg missense NM_001407690.1:c.4567G>A NP_001394619.1:p.Gly1523Arg missense NM_001407691.1:c.4567G>A NP_001394620.1:p.Gly1523Arg missense NM_001407692.1:c.4558G>A NP_001394621.1:p.Gly1520Arg missense NM_001407694.1:c.4558G>A NP_001394623.1:p.Gly1520Arg missense NM_001407695.1:c.4558G>A NP_001394624.1:p.Gly1520Arg missense NM_001407696.1:c.4558G>A NP_001394625.1:p.Gly1520Arg missense NM_001407697.1:c.4558G>A NP_001394626.1:p.Gly1520Arg missense NM_001407698.1:c.4558G>A NP_001394627.1:p.Gly1520Arg missense NM_001407724.1:c.4558G>A NP_001394653.1:p.Gly1520Arg missense NM_001407725.1:c.4558G>A NP_001394654.1:p.Gly1520Arg missense NM_001407726.1:c.4558G>A NP_001394655.1:p.Gly1520Arg missense NM_001407727.1:c.4558G>A NP_001394656.1:p.Gly1520Arg missense NM_001407728.1:c.4558G>A NP_001394657.1:p.Gly1520Arg missense NM_001407729.1:c.4558G>A NP_001394658.1:p.Gly1520Arg missense NM_001407730.1:c.4558G>A NP_001394659.1:p.Gly1520Arg missense NM_001407731.1:c.4558G>A NP_001394660.1:p.Gly1520Arg missense NM_001407732.1:c.4555G>A NP_001394661.1:p.Gly1519Arg missense NM_001407733.1:c.4555G>A NP_001394662.1:p.Gly1519Arg missense NM_001407734.1:c.4555G>A NP_001394663.1:p.Gly1519Arg missense NM_001407735.1:c.4555G>A NP_001394664.1:p.Gly1519Arg missense NM_001407736.1:c.4555G>A NP_001394665.1:p.Gly1519Arg missense NM_001407737.1:c.4555G>A NP_001394666.1:p.Gly1519Arg missense NM_001407738.1:c.4555G>A NP_001394667.1:p.Gly1519Arg missense NM_001407739.1:c.4555G>A NP_001394668.1:p.Gly1519Arg missense NM_001407740.1:c.4555G>A NP_001394669.1:p.Gly1519Arg missense NM_001407741.1:c.4555G>A NP_001394670.1:p.Gly1519Arg missense NM_001407742.1:c.4555G>A NP_001394671.1:p.Gly1519Arg missense NM_001407743.1:c.4555G>A NP_001394672.1:p.Gly1519Arg missense NM_001407744.1:c.4555G>A NP_001394673.1:p.Gly1519Arg missense NM_001407745.1:c.4555G>A NP_001394674.1:p.Gly1519Arg missense NM_001407746.1:c.4555G>A NP_001394675.1:p.Gly1519Arg missense NM_001407747.1:c.4555G>A NP_001394676.1:p.Gly1519Arg missense NM_001407748.1:c.4555G>A NP_001394677.1:p.Gly1519Arg missense NM_001407749.1:c.4555G>A NP_001394678.1:p.Gly1519Arg missense NM_001407750.1:c.4555G>A NP_001394679.1:p.Gly1519Arg missense NM_001407751.1:c.4555G>A NP_001394680.1:p.Gly1519Arg missense NM_001407752.1:c.4555G>A NP_001394681.1:p.Gly1519Arg missense NM_001407838.1:c.4552G>A NP_001394767.1:p.Gly1518Arg missense NM_001407839.1:c.4552G>A NP_001394768.1:p.Gly1518Arg missense NM_001407841.1:c.4552G>A NP_001394770.1:p.Gly1518Arg missense NM_001407842.1:c.4552G>A NP_001394771.1:p.Gly1518Arg missense NM_001407843.1:c.4552G>A NP_001394772.1:p.Gly1518Arg missense NM_001407844.1:c.4552G>A NP_001394773.1:p.Gly1518Arg missense NM_001407845.1:c.4552G>A NP_001394774.1:p.Gly1518Arg missense NM_001407846.1:c.4552G>A NP_001394775.1:p.Gly1518Arg missense NM_001407847.1:c.4552G>A NP_001394776.1:p.Gly1518Arg missense NM_001407848.1:c.4552G>A NP_001394777.1:p.Gly1518Arg missense NM_001407849.1:c.4552G>A NP_001394778.1:p.Gly1518Arg missense NM_001407850.1:c.4552G>A NP_001394779.1:p.Gly1518Arg missense NM_001407851.1:c.4552G>A NP_001394780.1:p.Gly1518Arg missense NM_001407852.1:c.4552G>A NP_001394781.1:p.Gly1518Arg missense NM_001407853.1:c.4552G>A NP_001394782.1:p.Gly1518Arg missense NM_001407854.1:c.4699G>A NP_001394783.1:p.Gly1567Arg missense NM_001407858.1:c.4696G>A NP_001394787.1:p.Gly1566Arg missense NM_001407859.1:c.4696G>A NP_001394788.1:p.Gly1566Arg missense NM_001407860.1:c.4696G>A NP_001394789.1:p.Gly1566Arg missense NM_001407861.1:c.4693G>A NP_001394790.1:p.Gly1565Arg missense NM_001407862.1:c.4498G>A NP_001394791.1:p.Gly1500Arg missense NM_001407863.1:c.4573G>A NP_001394792.1:p.Gly1525Arg missense NM_001407874.1:c.4492G>A NP_001394803.1:p.Gly1498Arg missense NM_001407875.1:c.4492G>A NP_001394804.1:p.Gly1498Arg missense NM_001407879.1:c.4489G>A NP_001394808.1:p.Gly1497Arg missense NM_001407881.1:c.4489G>A NP_001394810.1:p.Gly1497Arg missense NM_001407882.1:c.4489G>A NP_001394811.1:p.Gly1497Arg missense NM_001407884.1:c.4489G>A NP_001394813.1:p.Gly1497Arg missense NM_001407885.1:c.4489G>A NP_001394814.1:p.Gly1497Arg missense NM_001407886.1:c.4489G>A NP_001394815.1:p.Gly1497Arg missense NM_001407887.1:c.4489G>A NP_001394816.1:p.Gly1497Arg missense NM_001407889.1:c.4489G>A NP_001394818.1:p.Gly1497Arg missense NM_001407894.1:c.4486G>A NP_001394823.1:p.Gly1496Arg missense NM_001407895.1:c.4486G>A NP_001394824.1:p.Gly1496Arg missense NM_001407896.1:c.4486G>A NP_001394825.1:p.Gly1496Arg missense NM_001407897.1:c.4486G>A NP_001394826.1:p.Gly1496Arg missense NM_001407898.1:c.4486G>A NP_001394827.1:p.Gly1496Arg missense NM_001407899.1:c.4486G>A NP_001394828.1:p.Gly1496Arg missense NM_001407900.1:c.4486G>A NP_001394829.1:p.Gly1496Arg missense NM_001407902.1:c.4486G>A NP_001394831.1:p.Gly1496Arg missense NM_001407904.1:c.4486G>A NP_001394833.1:p.Gly1496Arg missense NM_001407906.1:c.4486G>A NP_001394835.1:p.Gly1496Arg missense NM_001407907.1:c.4486G>A NP_001394836.1:p.Gly1496Arg missense NM_001407908.1:c.4486G>A NP_001394837.1:p.Gly1496Arg missense NM_001407909.1:c.4486G>A NP_001394838.1:p.Gly1496Arg missense NM_001407910.1:c.4486G>A NP_001394839.1:p.Gly1496Arg missense NM_001407915.1:c.4483G>A NP_001394844.1:p.Gly1495Arg missense NM_001407916.1:c.4483G>A NP_001394845.1:p.Gly1495Arg missense NM_001407917.1:c.4483G>A NP_001394846.1:p.Gly1495Arg missense NM_001407918.1:c.4483G>A NP_001394847.1:p.Gly1495Arg missense NM_001407919.1:c.4576G>A NP_001394848.1:p.Gly1526Arg missense NM_001407920.1:c.4435G>A NP_001394849.1:p.Gly1479Arg missense NM_001407921.1:c.4435G>A NP_001394850.1:p.Gly1479Arg missense NM_001407922.1:c.4435G>A NP_001394851.1:p.Gly1479Arg missense NM_001407923.1:c.4435G>A NP_001394852.1:p.Gly1479Arg missense NM_001407924.1:c.4435G>A NP_001394853.1:p.Gly1479Arg missense NM_001407925.1:c.4435G>A NP_001394854.1:p.Gly1479Arg missense NM_001407926.1:c.4435G>A NP_001394855.1:p.Gly1479Arg missense NM_001407927.1:c.4432G>A NP_001394856.1:p.Gly1478Arg missense NM_001407928.1:c.4432G>A NP_001394857.1:p.Gly1478Arg missense NM_001407929.1:c.4432G>A NP_001394858.1:p.Gly1478Arg missense NM_001407930.1:c.4432G>A NP_001394859.1:p.Gly1478Arg missense NM_001407931.1:c.4432G>A NP_001394860.1:p.Gly1478Arg missense NM_001407932.1:c.4432G>A NP_001394861.1:p.Gly1478Arg missense NM_001407933.1:c.4432G>A NP_001394862.1:p.Gly1478Arg missense NM_001407934.1:c.4429G>A NP_001394863.1:p.Gly1477Arg missense NM_001407935.1:c.4429G>A NP_001394864.1:p.Gly1477Arg missense NM_001407936.1:c.4429G>A NP_001394865.1:p.Gly1477Arg missense NM_001407937.1:c.4576G>A NP_001394866.1:p.Gly1526Arg missense NM_001407938.1:c.4576G>A NP_001394867.1:p.Gly1526Arg missense NM_001407939.1:c.4573G>A NP_001394868.1:p.Gly1525Arg missense NM_001407940.1:c.4573G>A NP_001394869.1:p.Gly1525Arg missense NM_001407941.1:c.4570G>A NP_001394870.1:p.Gly1524Arg missense NM_001407942.1:c.4558G>A NP_001394871.1:p.Gly1520Arg missense NM_001407943.1:c.4555G>A NP_001394872.1:p.Gly1519Arg missense NM_001407944.1:c.4555G>A NP_001394873.1:p.Gly1519Arg missense NM_001407945.1:c.4555G>A NP_001394874.1:p.Gly1519Arg missense NM_001407946.1:c.4366G>A NP_001394875.1:p.Gly1456Arg missense NM_001407947.1:c.4366G>A NP_001394876.1:p.Gly1456Arg missense NM_001407948.1:c.4366G>A NP_001394877.1:p.Gly1456Arg missense NM_001407949.1:c.4366G>A NP_001394878.1:p.Gly1456Arg missense NM_001407950.1:c.4363G>A NP_001394879.1:p.Gly1455Arg missense NM_001407951.1:c.4363G>A NP_001394880.1:p.Gly1455Arg missense NM_001407952.1:c.4363G>A NP_001394881.1:p.Gly1455Arg missense NM_001407953.1:c.4363G>A NP_001394882.1:p.Gly1455Arg missense NM_001407954.1:c.4363G>A NP_001394883.1:p.Gly1455Arg missense NM_001407955.1:c.4363G>A NP_001394884.1:p.Gly1455Arg missense NM_001407956.1:c.4360G>A NP_001394885.1:p.Gly1454Arg missense NM_001407957.1:c.4360G>A NP_001394886.1:p.Gly1454Arg missense NM_001407958.1:c.4360G>A NP_001394887.1:p.Gly1454Arg missense NM_001407959.1:c.4318G>A NP_001394888.1:p.Gly1440Arg missense NM_001407960.1:c.4315G>A NP_001394889.1:p.Gly1439Arg missense NM_001407962.1:c.4315G>A NP_001394891.1:p.Gly1439Arg missense NM_001407963.1:c.4312G>A NP_001394892.1:p.Gly1438Arg missense NM_001407964.1:c.4237G>A NP_001394893.1:p.Gly1413Arg missense NM_001407965.1:c.4192G>A NP_001394894.1:p.Gly1398Arg missense NM_001407966.1:c.3811G>A NP_001394895.1:p.Gly1271Arg missense NM_001407967.1:c.3808G>A NP_001394896.1:p.Gly1270Arg missense NM_001407968.1:c.2095G>A NP_001394897.1:p.Gly699Arg missense NM_001407969.1:c.2092G>A NP_001394898.1:p.Gly698Arg missense NM_001407970.1:c.1456G>A NP_001394899.1:p.Gly486Arg missense NM_001407971.1:c.1456G>A NP_001394900.1:p.Gly486Arg missense NM_001407972.1:c.1453G>A NP_001394901.1:p.Gly485Arg missense NM_001407973.1:c.1390G>A NP_001394902.1:p.Gly464Arg missense NM_001407974.1:c.1390G>A NP_001394903.1:p.Gly464Arg missense NM_001407975.1:c.1390G>A NP_001394904.1:p.Gly464Arg missense NM_001407976.1:c.1390G>A NP_001394905.1:p.Gly464Arg missense NM_001407977.1:c.1390G>A NP_001394906.1:p.Gly464Arg missense NM_001407978.1:c.1390G>A NP_001394907.1:p.Gly464Arg missense NM_001407979.1:c.1387G>A NP_001394908.1:p.Gly463Arg missense NM_001407980.1:c.1387G>A NP_001394909.1:p.Gly463Arg missense NM_001407981.1:c.1387G>A NP_001394910.1:p.Gly463Arg missense NM_001407982.1:c.1387G>A NP_001394911.1:p.Gly463Arg missense NM_001407983.1:c.1387G>A NP_001394912.1:p.Gly463Arg missense NM_001407984.1:c.1387G>A NP_001394913.1:p.Gly463Arg missense NM_001407985.1:c.1387G>A NP_001394914.1:p.Gly463Arg missense NM_001407986.1:c.1387G>A NP_001394915.1:p.Gly463Arg missense NM_001407990.1:c.1387G>A NP_001394919.1:p.Gly463Arg missense NM_001407991.1:c.1387G>A NP_001394920.1:p.Gly463Arg missense NM_001407992.1:c.1387G>A NP_001394921.1:p.Gly463Arg missense NM_001407993.1:c.1387G>A NP_001394922.1:p.Gly463Arg missense NM_001408392.1:c.1384G>A NP_001395321.1:p.Gly462Arg missense NM_001408396.1:c.1384G>A NP_001395325.1:p.Gly462Arg missense NM_001408397.1:c.1384G>A NP_001395326.1:p.Gly462Arg missense NM_001408398.1:c.1384G>A NP_001395327.1:p.Gly462Arg missense NM_001408399.1:c.1384G>A NP_001395328.1:p.Gly462Arg missense NM_001408400.1:c.1384G>A NP_001395329.1:p.Gly462Arg missense NM_001408401.1:c.1384G>A NP_001395330.1:p.Gly462Arg missense NM_001408402.1:c.1384G>A NP_001395331.1:p.Gly462Arg missense NM_001408403.1:c.1384G>A NP_001395332.1:p.Gly462Arg missense NM_001408404.1:c.1384G>A NP_001395333.1:p.Gly462Arg missense NM_001408406.1:c.1381G>A NP_001395335.1:p.Gly461Arg missense NM_001408407.1:c.1381G>A NP_001395336.1:p.Gly461Arg missense NM_001408408.1:c.1381G>A NP_001395337.1:p.Gly461Arg missense NM_001408409.1:c.1378G>A NP_001395338.1:p.Gly460Arg missense NM_001408410.1:c.1315G>A NP_001395339.1:p.Gly439Arg missense NM_001408411.1:c.1312G>A NP_001395340.1:p.Gly438Arg missense NM_001408412.1:c.1309G>A NP_001395341.1:p.Gly437Arg missense NM_001408413.1:c.1309G>A NP_001395342.1:p.Gly437Arg missense NM_001408414.1:c.1309G>A NP_001395343.1:p.Gly437Arg missense NM_001408415.1:c.1309G>A NP_001395344.1:p.Gly437Arg missense NM_001408416.1:c.1309G>A NP_001395345.1:p.Gly437Arg missense NM_001408418.1:c.1273G>A NP_001395347.1:p.Gly425Arg missense NM_001408419.1:c.1273G>A NP_001395348.1:p.Gly425Arg missense NM_001408420.1:c.1273G>A NP_001395349.1:p.Gly425Arg missense NM_001408421.1:c.1270G>A NP_001395350.1:p.Gly424Arg missense NM_001408422.1:c.1270G>A NP_001395351.1:p.Gly424Arg missense NM_001408423.1:c.1270G>A NP_001395352.1:p.Gly424Arg missense NM_001408424.1:c.1270G>A NP_001395353.1:p.Gly424Arg missense NM_001408425.1:c.1267G>A NP_001395354.1:p.Gly423Arg missense NM_001408426.1:c.1267G>A NP_001395355.1:p.Gly423Arg missense NM_001408427.1:c.1267G>A NP_001395356.1:p.Gly423Arg missense NM_001408428.1:c.1267G>A NP_001395357.1:p.Gly423Arg missense NM_001408429.1:c.1267G>A NP_001395358.1:p.Gly423Arg missense NM_001408430.1:c.1267G>A NP_001395359.1:p.Gly423Arg missense NM_001408431.1:c.1267G>A NP_001395360.1:p.Gly423Arg missense NM_001408432.1:c.1264G>A NP_001395361.1:p.Gly422Arg missense NM_001408433.1:c.1264G>A NP_001395362.1:p.Gly422Arg missense NM_001408434.1:c.1264G>A NP_001395363.1:p.Gly422Arg missense NM_001408435.1:c.1264G>A NP_001395364.1:p.Gly422Arg missense NM_001408436.1:c.1264G>A NP_001395365.1:p.Gly422Arg missense NM_001408437.1:c.1264G>A NP_001395366.1:p.Gly422Arg missense NM_001408438.1:c.1264G>A NP_001395367.1:p.Gly422Arg missense NM_001408439.1:c.1264G>A NP_001395368.1:p.Gly422Arg missense NM_001408440.1:c.1264G>A NP_001395369.1:p.Gly422Arg missense NM_001408441.1:c.1264G>A NP_001395370.1:p.Gly422Arg missense NM_001408442.1:c.1264G>A NP_001395371.1:p.Gly422Arg missense NM_001408443.1:c.1264G>A NP_001395372.1:p.Gly422Arg missense NM_001408444.1:c.1264G>A NP_001395373.1:p.Gly422Arg missense NM_001408445.1:c.1261G>A NP_001395374.1:p.Gly421Arg missense NM_001408446.1:c.1261G>A NP_001395375.1:p.Gly421Arg missense NM_001408447.1:c.1261G>A NP_001395376.1:p.Gly421Arg missense NM_001408448.1:c.1261G>A NP_001395377.1:p.Gly421Arg missense NM_001408450.1:c.1261G>A NP_001395379.1:p.Gly421Arg missense NM_001408451.1:c.1255G>A NP_001395380.1:p.Gly419Arg missense NM_001408452.1:c.1249G>A NP_001395381.1:p.Gly417Arg missense NM_001408453.1:c.1249G>A NP_001395382.1:p.Gly417Arg missense NM_001408454.1:c.1249G>A NP_001395383.1:p.Gly417Arg missense NM_001408455.1:c.1249G>A NP_001395384.1:p.Gly417Arg missense NM_001408456.1:c.1249G>A NP_001395385.1:p.Gly417Arg missense NM_001408457.1:c.1249G>A NP_001395386.1:p.Gly417Arg missense NM_001408458.1:c.1246G>A NP_001395387.1:p.Gly416Arg missense NM_001408459.1:c.1246G>A NP_001395388.1:p.Gly416Arg missense NM_001408460.1:c.1246G>A NP_001395389.1:p.Gly416Arg missense NM_001408461.1:c.1246G>A NP_001395390.1:p.Gly416Arg missense NM_001408462.1:c.1246G>A NP_001395391.1:p.Gly416Arg missense NM_001408463.1:c.1246G>A NP_001395392.1:p.Gly416Arg missense NM_001408464.1:c.1246G>A NP_001395393.1:p.Gly416Arg missense NM_001408465.1:c.1246G>A NP_001395394.1:p.Gly416Arg missense NM_001408466.1:c.1246G>A NP_001395395.1:p.Gly416Arg missense NM_001408467.1:c.1246G>A NP_001395396.1:p.Gly416Arg missense NM_001408468.1:c.1243G>A NP_001395397.1:p.Gly415Arg missense NM_001408469.1:c.1243G>A NP_001395398.1:p.Gly415Arg missense NM_001408470.1:c.1243G>A NP_001395399.1:p.Gly415Arg missense NM_001408472.1:c.1387G>A NP_001395401.1:p.Gly463Arg missense NM_001408473.1:c.1384G>A NP_001395402.1:p.Gly462Arg missense NM_001408474.1:c.1189G>A NP_001395403.1:p.Gly397Arg missense NM_001408475.1:c.1186G>A NP_001395404.1:p.Gly396Arg missense NM_001408476.1:c.1186G>A NP_001395405.1:p.Gly396Arg missense NM_001408478.1:c.1180G>A NP_001395407.1:p.Gly394Arg missense NM_001408479.1:c.1180G>A NP_001395408.1:p.Gly394Arg missense NM_001408480.1:c.1180G>A NP_001395409.1:p.Gly394Arg missense NM_001408481.1:c.1177G>A NP_001395410.1:p.Gly393Arg missense NM_001408482.1:c.1177G>A NP_001395411.1:p.Gly393Arg missense NM_001408483.1:c.1177G>A NP_001395412.1:p.Gly393Arg missense NM_001408484.1:c.1177G>A NP_001395413.1:p.Gly393Arg missense NM_001408485.1:c.1177G>A NP_001395414.1:p.Gly393Arg missense NM_001408489.1:c.1177G>A NP_001395418.1:p.Gly393Arg missense NM_001408490.1:c.1177G>A NP_001395419.1:p.Gly393Arg missense NM_001408491.1:c.1177G>A NP_001395420.1:p.Gly393Arg missense NM_001408492.1:c.1174G>A NP_001395421.1:p.Gly392Arg missense NM_001408493.1:c.1174G>A NP_001395422.1:p.Gly392Arg missense NM_001408494.1:c.1150G>A NP_001395423.1:p.Gly384Arg missense NM_001408495.1:c.1144G>A NP_001395424.1:p.Gly382Arg missense NM_001408496.1:c.1126G>A NP_001395425.1:p.Gly376Arg missense NM_001408497.1:c.1126G>A NP_001395426.1:p.Gly376Arg missense NM_001408498.1:c.1126G>A NP_001395427.1:p.Gly376Arg missense NM_001408499.1:c.1126G>A NP_001395428.1:p.Gly376Arg missense NM_001408500.1:c.1126G>A NP_001395429.1:p.Gly376Arg missense NM_001408501.1:c.1126G>A NP_001395430.1:p.Gly376Arg missense NM_001408502.1:c.1123G>A NP_001395431.1:p.Gly375Arg missense NM_001408503.1:c.1123G>A NP_001395432.1:p.Gly375Arg missense NM_001408504.1:c.1123G>A NP_001395433.1:p.Gly375Arg missense NM_001408505.1:c.1120G>A NP_001395434.1:p.Gly374Arg missense NM_001408506.1:c.1063G>A NP_001395435.1:p.Gly355Arg missense NM_001408507.1:c.1060G>A NP_001395436.1:p.Gly354Arg missense NM_001408508.1:c.1051G>A NP_001395437.1:p.Gly351Arg missense NM_001408509.1:c.1048G>A NP_001395438.1:p.Gly350Arg missense NM_001408510.1:c.1009G>A NP_001395439.1:p.Gly337Arg missense NM_001408511.1:c.1006G>A NP_001395440.1:p.Gly336Arg missense NM_001408512.1:c.886G>A NP_001395441.1:p.Gly296Arg missense NM_001408513.1:c.859G>A NP_001395442.1:p.Gly287Arg missense NM_007297.4:c.4558G>A NP_009228.2:p.Gly1520Arg missense NM_007298.4:c.1387G>A NP_009229.2:p.Gly463Arg missense NM_007299.4:c.1387G>A NP_009230.2:p.Gly463Arg missense NM_007300.4:c.4762G>A NP_009231.2:p.Gly1588Arg missense NM_007304.2:c.1387G>A NP_009235.2:p.Gly463Arg missense NR_027676.2:n.4876G>A non-coding transcript variant NC_000017.11:g.43071215C>T NC_000017.10:g.41223232C>T NG_005905.2:g.146769G>A LRG_292:g.146769G>A LRG_292t1:c.4699G>A LRG_292p1:p.Gly1567Arg - Protein change
- G1567R, G1520R, G463R, G1588R, G1271R, G1478R, G1498R, G1500R, G1526R, G1547R, G1564R, G1587R, G1589R, G287R, G354R, G374R, G382R, G396R, G397R, G417R, G424R, G485R, G486R, G1270R, G1455R, G1479R, G1495R, G1497R, G1518R, G1519R, G1524R, G1548R, G350R, G375R, G376R, G416R, G419R, G460R, G461R, G698R, G1398R, G1438R, G1439R, G1456R, G1477R, G1496R, G1523R, G1525R, G1540R, G1563R, G296R, G336R, G351R, G355R, G384R, G415R, G421R, G423R, G425R, G437R, G439R, G462R, G699R, G1413R, G1440R, G1454R, G1539R, G1541R, G1562R, G1565R, G1566R, G337R, G392R, G393R, G394R, G422R, G438R, G464R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071214:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
-
0.00020 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
- 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 |
13041 | 14847 | |
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 (3) |
criteria provided, multiple submitters, no conflicts
|
Apr 5, 2023 | RCV000579403.11 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Jul 21, 2021 | RCV001821695.4 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Oct 13, 2023 | RCV001853866.5 |
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
(Dec 03, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683209.4
First in ClinVar: Feb 19, 2018 Last updated: Jan 12, 2022 |
Comment:
This missense variant replaces glycine with arginine at codon 1567 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces glycine with arginine at codon 1567 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/250974 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
|
Uncertain significance
(Jul 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002071763.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.4699G>A, in exon 15 that results in an amino acid change, p.Gly1567Arg. This sequence … (more)
DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.4699G>A, in exon 15 that results in an amino acid change, p.Gly1567Arg. This sequence change does not appear to have been previously described in individuals with BRCA1-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0065% in the South Asian subpopulation (dbSNP rs568753972). The p.Gly1567Arg change affects a moderately conserved amino acid residue located in a domain of the BRCA1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly1567Arg substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly1567Arg change remains unknown at this time. (less)
|
|
|
Uncertain significance
(Sep 09, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002537774.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
To the best of our knowledge, the BRCA1 c.4699G>A (p.G1567R) variant has not been reported in individuals with BRCA1-related disease. It was observed in 2/30616 … (more)
To the best of our knowledge, the BRCA1 c.4699G>A (p.G1567R) variant has not been reported in individuals with BRCA1-related disease. It was observed in 2/30616 chromosomes of the South Asian subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). The variant has been reported in ClinVar (Variation ID: 489723). In silico tools suggest the impact of the variant on protein function is deleterious, though these predictions have not been confirmed by functional studies. The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
|
|
|
|
Uncertain significance
(Oct 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002260479.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1567 of the BRCA1 protein (p.Gly1567Arg). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1567 of the BRCA1 protein (p.Gly1567Arg). This variant is present in population databases (rs568753972, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489723). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 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)
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Uncertain significance
(Apr 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001184709.5
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.G1567R variant (also known as c.4699G>A), located in coding exon 14 of the BRCA1 gene, results from a G to A substitution at nucleotide … (more)
The p.G1567R variant (also known as c.4699G>A), located in coding exon 14 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4699. The glycine at codon 1567 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Comment:
Comment:
DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.4699G>A, in exon 15 that results in an amino acid change, p.Gly1567Arg. This sequence change does not appear to have been previously described in individuals with BRCA1-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0065% in the South Asian subpopulation (dbSNP rs568753972). The p.Gly1567Arg change affects a moderately conserved amino acid residue located in a domain of the BRCA1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly1567Arg substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly1567Arg change remains unknown at this time.
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1567 of the BRCA1 protein (p.Gly1567Arg). This variant is present in population databases (rs568753972, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489723). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 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.
Comment:
The p.G1567R variant (also known as c.4699G>A), located in coding exon 14 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4699. The glycine at codon 1567 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
This missense variant replaces glycine with arginine at codon 1567 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/250974 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
DNA sequence analysis of the BRCA1 gene demonstrated a sequence change, c.4699G>A, in exon 15 that results in an amino acid change, p.Gly1567Arg. This sequence change does not appear to have been previously described in individuals with BRCA1-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0065% in the South Asian subpopulation (dbSNP rs568753972). The p.Gly1567Arg change affects a moderately conserved amino acid residue located in a domain of the BRCA1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly1567Arg substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly1567Arg change remains unknown at this time.
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1567 of the BRCA1 protein (p.Gly1567Arg). This variant is present in population databases (rs568753972, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489723). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 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.
Comment:
The p.G1567R variant (also known as c.4699G>A), located in coding exon 14 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4699. The glycine at codon 1567 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs568753972 ...
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Record last updated Sep 29, 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.