ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9388G>A (p.Glu3130Lys)

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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 RCV004952367 SCV005548605 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-03 criteria provided, single submitter clinical testing The p.E3130K variant (also known as c.9388G>A), located in coding exon 24 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9388. The glutamic acid at codon 3130 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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