Submissions for variant NM_000517.6(HBA2):c.375C>G (p.Ser125=)

gnomAD frequency: 0.00010  dbSNP: rs775058691

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001811	SCV001159473	likely benign	not specified	2018-08-08	criteria provided, single submitter	clinical testing	The HBA2 c.375C>G; Ser124Ser variant (rs775058691), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.013% (31/243,978 alleles, including a single homozygote) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, the Ser124Ser variant is considered to be likely benign.
Natera, Inc.	RCV001832319	SCV002093847	likely benign	alpha Thalassemia	2021-06-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918641	SCV004727966	likely benign	HBA2-related disorder	2021-01-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).