ClinVar Miner

Submissions for variant NC_000011.10:g.5254939G>A

gnomAD frequency: 0.20740  dbSNP: rs7482144
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811143 SCV002050256 benign not provided 2024-11-13 criteria provided, single submitter clinical testing The HBG2 c.-211C>T variant (rs7482144, rs1060499525, HbVar ID: 3260), also known as -158C>T and XmnI, is a common variant in the 5' untranslated region. While not associated with hereditary persistence of fetal hemoglobin (HPFH) in healthy adults, this variant has been described as a modifier of beta-thalassemia (Ma 2007, Nguyen 2010) and beta-globin variants such as Hb S (Akinbami 2016) due to its association with increased levels of HbF. This variant is also reported in ClinVar (Variation ID: 14984) and is found in the general population with an overall allele frequency of 20.7% (at least 6412/30916 alleles) in the Genome Aggregation Database. Based on available information, this variant is considered to be benign. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Akinbami AO et al. Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. Hemoglobin. 2016;40(1):64-5. PMID: 26372199. Ma Q et al. Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia. Clin Genet. 2007 Dec;72(6):497-505. PMID: 17894837. Nguyen TK et al. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. Blood Cells Mol Dis. 2010 Aug 15;45(2):124-7. PMID: 20472475.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595883 SCV005090884 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811143 SCV005323400 benign not provided criteria provided, single submitter not provided
OMIM RCV001814962 SCV000036392 uncertain significance Hereditary persistence of fetal hemoglobin 2010-12-01 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.