ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2564A>G (p.Gln855Arg)

dbSNP: rs768001441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637557 SCV000759021 uncertain significance Hereditary breast ovarian cancer syndrome 2017-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces glutamine with arginine at codon 855 of the BRCA1 protein (p.Gln855Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Ambry Genetics RCV002424405 SCV002740240 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-24 criteria provided, single submitter clinical testing The p.Q855R variant (also known as c.2564A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2564. The glutamine at codon 855 is replaced by arginine, an amino acid with highly similar 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002424405 SCV003847573 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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