ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2309T>C (p.Ile770Thr)

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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 RCV004952544 SCV005552087 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-08 criteria provided, single submitter clinical testing The p.I770T variant (also known as c.2309T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 2309. The isoleucine at codon 770 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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