ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.851G>A (p.Gly284Glu) (rs1064793865)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000759673 SCV000567219 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.851G>A at the cDNA level, p.Gly284Glu (G284E) 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 BRCA2 1079G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gly284Glu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glycine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Gly284Glu occurs at a position that is not conserved and is not located in a known functional domain (Roy 2012, Borg 2010, Narod 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Gly284Glu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759673 SCV000889156 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing

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.