ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.605C>T (p.Pro202Leu) (rs1064793699)

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 RCV000478707 SCV000566812 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.605C>T at the cDNA level, p.Pro202Leu (P202L) at the protein level, and results in the change of a Proline to a Leucine (CCC>CTC). Using alternate nomenclature, this variant would be defined as BRCA2 833C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Pro202Leu 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 Proline and Leucine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Pro202Leu occurs at a position that is conserved across species and is not located in a known functional domain (Roy 2012, Borg 2010). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA2 Pro202Leu is pathogenic or benign. 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.