ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3471A>T (p.Arg1157Ser)

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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 RCV003171299 SCV003859922 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-11 criteria provided, single submitter clinical testing The p.R1157S variant (also known as c.3471A>T), located in coding exon 19 of the BRIP1 gene, results from an A to T substitution at nucleotide position 3471. The arginine at codon 1157 is replaced by serine, an amino acid with dissimilar 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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