ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5189_5191ATC[1] (p.His1731del) (rs1064795583)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561386 SCV000666102 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000484800 SCV000571534 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA2 is denoted c.5192_5194delATC at the cDNA level and p.His1731del (H1731del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 c.5420_5422delATC. The normal sequence, with the bases that are deleted in braces, is AATC[ATC]TCTC. This deletion of a single Histidine residue occurs at a position that is not conserved and is located in the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 His1731del to be a variant of uncertain significance.

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