ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly) (rs80358760)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167078 SCV000217906 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113425 SCV000146606 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Counsyl RCV000113425 SCV000785356 uncertain significance Breast-ovarian cancer, familial 2 2017-07-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113425 SCV000743307 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000044649 SCV000072662 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1797 of the BRCA2 protein (p.Ala1797Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs80358760, ExAC 0.002%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). However, in one of these individuals a pathogenic allele was also identified in BRCA1, which suggests that this c.5390C>G variant in BRCA2 was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 51852). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as 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.