ClinVar Miner

Submissions for variant NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)

gnomAD frequency: 0.50935  dbSNP: rs1801274
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454909 SCV000539158 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported as a risk factor for lupus nephritis, severe malaria, p. aeurginosa infection, and reduced risk for ulcerative colitis - questionable and unrelated to patient disease.
OMIM RCV000015946 SCV000036213 risk factor Lupus nephritis, susceptibility to 2010-07-01 no assertion criteria provided literature only
OMIM RCV000015947 SCV000036214 risk factor Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 2010-07-01 no assertion criteria provided literature only
OMIM RCV000054529 SCV000083007 risk factor Malaria, severe, susceptibility to 2010-07-01 no assertion criteria provided literature only

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.