ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3726A>C (p.Lys1242Asn)

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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 RCV002349131 SCV002620326 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-30 criteria provided, single submitter clinical testing The p.K1242N variant (also known as c.3726A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 3726. The lysine at codon 1242 is replaced by asparagine, 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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