ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8975C>T (p.Pro2992Leu)

dbSNP: rs1593937330
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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 RCV001018579 SCV001179833 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing The p.P2992L variant (also known as c.8975C>T), located in coding exon 22 of the BRCA2 gene, results from a C to T substitution at nucleotide position 8975. The proline at codon 2992 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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