ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.676A>G (p.Ser226Gly)

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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 RCV002369297 SCV002666505 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-07 criteria provided, single submitter clinical testing The p.S226G variant (also known as c.676A>G), located in coding exon 6 of the BRIP1 gene, results from an A to G substitution at nucleotide position 676. The serine at codon 226 is replaced by glycine, 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.
Baylor Genetics RCV004572335 SCV005059957 uncertain significance Familial cancer of breast 2023-11-12 criteria provided, single submitter clinical testing

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