ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5272_5286del (p.Asn1758_Tyr1762del) (rs758071261)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480780 SCV000567998 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing This in-frame deletion of 15 nucleotides in BRCA2 is denoted c.5272_5286del15 at the cDNA level and p.Asn1758_Tyr1762del (N1758_Y1762del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATAT[del15]CTCT. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). This deletion is located in within the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect.? However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. 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 Asn1758_Tyr1762del to be a variant of uncertain significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.