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
Invitae RCV000044649 SCV000072662 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-30 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 observed in an individual with personal and/or family history of breast and/or ovarian cancer (PMID: 30254663). 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000167078 SCV000217906 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Insufficient evidence
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
Counsyl RCV000113425 SCV000785356 uncertain significance Breast-ovarian cancer, familial 2 2017-07-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113425 SCV000146606 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.