ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.416C>A (p.Ser139Tyr)

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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 RCV004952576 SCV005553028 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-06 criteria provided, single submitter clinical testing The p.S139Y variant (also known as c.416C>A), located in coding exon 4 of the BRIP1 gene, results from a C to A substitution at nucleotide position 416. The serine at codon 139 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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