ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1033A>G (p.Lys345Glu) (rs80358406)

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 RCV000043733 SCV000071746 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-01-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 345 of the BRCA2 protein (p.Lys345Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs80358406, ExAC 0.002%). This variant has been observed in an individual affected with breast cancer (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 51059). The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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, 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 RCV000562927 SCV000668773 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000112877 SCV000145809 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 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.