ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8679G>T (p.Gln2893His)

dbSNP: rs1566251407
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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 RCV000687926 SCV000815519 uncertain significance Hereditary breast ovarian cancer syndrome 2018-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 2893 of the BRCA2 protein (p.Gln2893His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. 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: "Deleterious"; 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759675 SCV000889159 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442428 SCV002683359 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-07 criteria provided, single submitter clinical testing The p.Q2893H variant (also known as c.8679G>T), located in coding exon 20 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8679. The glutamine at codon 2893 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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