ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9341T>C (p.Ile3114Thr)

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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 RCV002371679 SCV002684892 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-30 criteria provided, single submitter clinical testing The p.I3114T variant (also known as c.9341T>C), located in coding exon 24 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9341. The isoleucine at codon 3114 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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