ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6363A>C (p.Glu2121Asp)

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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 RCV004517709 SCV005028929 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-24 criteria provided, single submitter clinical testing The p.E2121D variant (also known as c.6363A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 6363. The glutamic acid at codon 2121 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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