ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4228A>T (p.Thr1410Ser)

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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 RCV003187269 SCV003853850 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-26 criteria provided, single submitter clinical testing The p.T1410S variant (also known as c.4228A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 4228. The threonine at codon 1410 is replaced by serine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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