ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)

gnomAD frequency: 0.00004  dbSNP: rs139707827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045844 SCV002307051 uncertain significance Agammaglobulinemia 6, autosomal recessive 2021-02-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 110 of the CD79B protein (p.Gln110Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CD79B-related conditions. This variant is present in population databases (rs139707827, ExAC 0.02%).

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.