ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10192C>A (p.Gln3398Lys)

dbSNP: rs1566261530
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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 RCV001009691 SCV001169789 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-27 criteria provided, single submitter clinical testing The p.Q3398K variant (also known as c.10192C>A), located in coding exon 26 of the BRCA2 gene, results from a C to A substitution at nucleotide position 10192. The glutamine at codon 3398 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
All of Us Research Program, National Institutes of Health RCV004807250 SCV005425879 uncertain significance BRCA2-related cancer predisposition 2024-05-09 criteria provided, single submitter clinical testing

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