ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3082A>G (p.Lys1028Glu)

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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 RCV004519377 SCV005025755 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-06 criteria provided, single submitter clinical testing The p.K1028E variant (also known as c.3082A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 3082. The lysine at codon 1028 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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