ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2992A>C (p.Lys998Gln)

dbSNP: rs1603275633
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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 RCV001017827 SCV001178981 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-23 criteria provided, single submitter clinical testing The p.K998Q variant (also known as c.2992A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 2992. The lysine at codon 998 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not well 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.

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