ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.163C>T (p.Gln55Ter)

gnomAD frequency: 0.00004  dbSNP: rs281864840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811889 SCV002048612 likely pathogenic not provided 2021-04-02 criteria provided, single submitter clinical testing The HBA2 c.163C>T; p.Gln55Ter, variant (also known as Gln54Ter when numbered from the mature protein, rs281864840) been reported in the heterozygous state in an individual with microcytosis and hypochromia and normal Hb pattern (Eng 2009). This variant is found in the African population with an allele frequency of 0.03% (2/6384 alleles, including 1 homozygote) in the Genome Aggregation Database. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic. References: Eng B et al. Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG). Hemoglobin. 2009;33(1):72-4. PMID: 19205977.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811889 SCV004219824 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing The c.163C>T (p.Gln55*) nonsense variant causes the premature termination of HBA2 protein synthesis and is associated with haemolytic anemia (ITHANET (http://www.ithanet.eu/)). In the published literature, this variant has been reported in one affected individual with mild microcytosis and hypochromia (PMID: 19205977 (2009)). Based on this information, the variant is classified as pathogenic.

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.