ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.328T>G (p.Tyr110Asp)

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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 RCV003171298 SCV003859899 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-26 criteria provided, single submitter clinical testing The p.Y110D variant (also known as c.328T>G), located in coding exon 3 of the BRIP1 gene, results from a T to G substitution at nucleotide position 328. The tyrosine at codon 110 is replaced by aspartic acid, an amino acid with highly 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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