ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5669T>C (p.Met1890Thr) (rs80358794)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212242 SCV000210361 uncertain significance not provided 2014-02-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5669T>C at the cDNA level, p.Met1890Thr (M1890T) at the protein level, and results in the change of a Methionine to a Threonine (ATG>ACG). This variant has been reported 4 times in the Breast Cancer Information Core (BIC) database as a variant of unknown clinical importance. BRCA2 Met1890Thr 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. This variant is a non-conservative substitution in which a neutral non-polar amino acid is replaced with a neutral polar one, altering a position that is highly variable throughout evolution and is not located in a known functional domain. In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Met1890Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000574337 SCV000661451 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113460 SCV000146664 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 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.