ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7725T>G (p.Thr2575=)

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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 RCV002400704 SCV002669246 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter clinical testing The c.7725T>G variant (also known as p.T2575T), located in coding exon 15 of the BRCA2 gene, results from a T to G substitution at nucleotide position 7725. This nucleotide substitution does not change the at codon 2575. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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