ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.881A>C (p.Glu294Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002373746 SCV002685202 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-01 criteria provided, single submitter clinical testing The p.E294A variant (also known as c.881A>C), located in coding exon 9 of the BRCA2 gene, results from an A to C substitution at nucleotide position 881. The glutamic acid at codon 294 is replaced by alanine, an amino acid with dissimilar 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 RCV002373746 SCV003848104 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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