ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5635G>C (p.Glu1879Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002345104 SCV002652007 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-15 criteria provided, single submitter clinical testing The p.E1879Q variant (also known as c.5635G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 5635. The glutamic acid at codon 1879 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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 RCV002345104 SCV003848973 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).
All of Us Research Program, National Institutes of Health RCV004804444 SCV005424492 uncertain significance BRCA2-related cancer predisposition 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with glutamine at codon 1879 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified 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.

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