ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8852C>G (p.Ala2951Gly)

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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 RCV002373834 SCV002683913 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-24 criteria provided, single submitter clinical testing The p.A2951G variant (also known as c.8852C>G), located in coding exon 21 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8852. The alanine at codon 2951 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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