ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-81A>G (rs33981098)

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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506722 SCV000601321 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001255596 SCV001432104 pathogenic Beta thalassemia intermedia 2020-08-17 criteria provided, single submitter clinical testing Variant summary: HBB c.-81A>G (also known as c. -31A>G) is located in the untranscribed region upstream of the HBB gene region. The variant was absent in 31396 control chromosomes (gnomAD). c.-81A>G has been reported in the literature in multiple individuals (mostly of Japanese origin) affected with Beta Thalassemia Intermedia (e.g. Takihara_1986, Hattori_1989, Ohba_1997, Fucharoen_1990). These data indicate that the variant is very likely to be associated with disease. In a functional assay, this variant resulted in reduced beta-globin RNA levels (Takihara_1986). Three ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016724 SCV000036994 pathogenic Beta-plus-thalassemia 1989-01-01 no assertion criteria provided literature only
GeneReviews RCV000445643 SCV000537288 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000445643 SCV001244529 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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.