ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5243G>C (p.Ser1748Thr)

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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 RCV004952475 SCV005551916 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-11 criteria provided, single submitter clinical testing The p.S1748T variant (also known as c.5243G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 5243. The serine at codon 1748 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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