ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2620A>G (p.Thr874Ala)

dbSNP: rs1593897363
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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 RCV001016126 SCV001177043 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-22 criteria provided, single submitter clinical testing The p.T874A variant (also known as c.2620A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 2620. The threonine at codon 874 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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 RCV001016126 SCV003848450 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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