ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.426T>G (p.Ser142Arg)

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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 RCV004602302 SCV005102068 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-26 criteria provided, single submitter clinical testing The p.S142R variant (also known as c.426T>G), located in coding exon 4 of the BRCA2 gene, results from a T to G substitution at nucleotide position 426. This variant impacts the first base pair of coding exon 4. The serine at codon 142 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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