ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10081C>A (p.Gln3361Lys)

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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 RCV002446130 SCV002732271 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter clinical testing The p.Q3361K variant (also known as c.10081C>A), located in coding exon 26 of the BRCA2 gene, results from a C to A substitution at nucleotide position 10081. The glutamine at codon 3361 is replaced by lysine, 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.

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