ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8621A>G (p.Glu2874Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004602267 SCV005100632 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.E2874G variant (also known as c.8621A>G), located in coding exon 19 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8621. The glutamic acid at codon 2874 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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