ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5342A>G (p.Asp1781Gly) (rs80358756)

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
Invitae RCV000044635 SCV000072648 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1781 of the BRCA2 protein (p.Asp1781Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs80358756, ExAC 0.02%). This variant has been reported in a single family affected with breast cancer (PMID: 12491487). ClinVar contains an entry for this variant (Variation ID: 51840). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000214135 SCV000277720 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113420 SCV000146597 uncertain significance Breast-ovarian cancer, familial 2 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.