ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4437T>A (p.Ser1479Arg)

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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 RCV003187249 SCV003853811 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-29 criteria provided, single submitter clinical testing The p.S1479R variant (also known as c.4437T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 4437. The serine at codon 1479 is replaced by arginine, an amino acid with 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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