ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3710C>G (p.Ala1237Gly)

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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 RCV004952449 SCV005551865 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-19 criteria provided, single submitter clinical testing The p.A1237G variant (also known as c.3710C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 3710. The alanine at codon 1237 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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