ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9389A>T (p.Glu3130Val)

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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 RCV002450115 SCV002682423 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter clinical testing The p.E3130V variant (also known as c.9389A>T), located in coding exon 24 of the BRCA2 gene, results from an A to T substitution at nucleotide position 9389. The glutamic acid at codon 3130 is replaced by valine, an amino acid with dissimilar 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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