ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7193C>T (p.Thr2398Ile)

dbSNP: rs80358947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777624 SCV000913495 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777624 SCV005029444 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-09 criteria provided, single submitter clinical testing The p.T2398I variant (also known as c.7193C>T), located in coding exon 13 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7193. The threonine at codon 2398 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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