ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.772C>A (p.Gln258Lys)

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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 RCV002400719 SCV002670587 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-08 criteria provided, single submitter clinical testing The p.Q258K variant (also known as c.772C>A), located in coding exon 6 of the BRIP1 gene, results from a C to A substitution at nucleotide position 772. The glutamine at codon 258 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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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