ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.778_779inv (p.Glu260Ser)

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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 RCV002409820 SCV002673002 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-10 criteria provided, single submitter clinical testing The c.778_779delGAinsTC variant, located in coding exon 8 of the BRCA2 gene, results from an in-frame deletion of GA and insertion of TC at nucleotide positions 778 to 779. This nucleotide region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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