ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3699C>G (p.Asn1233Lys)

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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 RCV003382371 SCV004098141 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-11 criteria provided, single submitter clinical testing The p.N1233K variant (also known as c.3699C>G), located in coding exon 19 of the BRIP1 gene, results from a C to G substitution at nucleotide position 3699. The asparagine at codon 1233 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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