ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3253A>G (p.Arg1085Gly)

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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 RCV002324905 SCV002611000 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The p.R1085G variant (also known as c.3253A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3253. The arginine at codon 1085 is replaced by glycine, 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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