ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.708T>G (p.His236Gln)

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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 RCV002367287 SCV002663079 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-25 criteria provided, single submitter clinical testing The p.H236Q variant (also known as c.708T>G), located in coding exon 8 of the BRCA2 gene, results from a T to G substitution at nucleotide position 708. The histidine at codon 236 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data); However the interpretation of the resulting in-frame partial exon loss is not possible at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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