ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5768A>T (p.Asp1923Val) (rs45491005)

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 RCV000220914 SCV000279213 uncertain significance not provided 2015-12-27 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5768A>T at the cDNA level, p.Asp1923Val (D1923V) at the protein level, and results in the change of an Aspartic Acid to a Valine (GAC>GTC). Using alternate nomenclature, this variant would be defined as BRCA2 5996A>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asp1923Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Aspartic Acid and Valine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Asp1923Val occurs at a position that is not conserved and is not located in a known functional domain (Narod 1994, Roy 2012). In-house in silico analyses predict that this variant is unlikely to alter protein structure or function, however a published computational model has suggested an impact on CK2 kinase binding (Tram 2013). Based on currently available evidence, it is unclear whether BRCA2 Asp1923Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113480 SCV000146693 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided 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.