ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.738A>G (p.Ile246Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380428 SCV002671176 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-28 criteria provided, single submitter clinical testing The p.I246M variant (also known as c.738A>G), located in coding exon 6 of the BRIP1 gene, results from an A to G substitution at nucleotide position 738. The isoleucine at codon 246 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476978 SCV004220733 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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