ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3722A>G (p.Asn1241Ser)

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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 RCV004519844 SCV005029277 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-26 criteria provided, single submitter clinical testing The p.N1241S variant (also known as c.3722A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3722. The asparagine at codon 1241 is replaced by serine, an amino acid with highly 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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