ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5126G>A (p.Gly1709Glu) (rs786204269)

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 RCV000657151 SCV000572500 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5126G>A at the cDNA level, p.Gly1709Glu (G1709E) at the protein level, and results in the change of a Glycine to a Glutamic Acid (GGA>GAA). Using alternate nomenclature, this variant would be defined as BRCA1 5245G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gly1709Glu was not observed in large population cohorts (Lek 2016). BRCA1 Gly1709Glu is located in the BRCT1 domain and a region known to interact with multiple other proteins (Narod 2004, Paul 2014). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Gly1709Glu is a pathogenic or benign variant. We consider it 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.