ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9896A>C (p.Gln3299Pro)

dbSNP: rs398122625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381390 SCV002693253 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter clinical testing The p.Q3299P variant (also known as c.9896A>C), located in coding exon 26 of the BRCA2 gene, results from an A to C substitution at nucleotide position 9896. The glutamine at codon 3299 is replaced by proline, an amino acid with 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.
Sharing Clinical Reports Project (SCRP) RCV000077054 SCV000108851 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2011-07-08 no assertion criteria provided clinical testing

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