ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8108C>A (p.Thr2703Asn)

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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 RCV003302174 SCV004005502 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-06 criteria provided, single submitter clinical testing The p.T2703N variant (also known as c.8108C>A), located in coding exon 17 of the BRCA2 gene, results from a C to A substitution at nucleotide position 8108. The threonine at codon 2703 is replaced by asparagine, 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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