ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)

gnomAD frequency: 0.01999  dbSNP: rs9282858
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531645 SCV000631418 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000083640 SCV001942014 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31942420)
Molecular Genetics, Royal Melbourne Hospital RCV000531645 SCV004812687 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 3.124%% (rs9282858, 3075/152258 alleles, 43 homozygotes in gnomAD v3.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
Breakthrough Genomics, Breakthrough Genomics RCV000083640 SCV005241786 benign not provided criteria provided, single submitter not provided
OMIM RCV000003511 SCV000023669 benign SRD5A2 POLYMORPHISM 2008-08-15 no assertion criteria provided literature only
University of Sydney Medical Foundation RCV000083640 SCV000115726 not provided not provided no assertion provided not provided
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000531645 SCV000692378 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-05-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004755706 SCV005367137 uncertain significance SRD5A2-related disorder 2024-08-06 no assertion criteria provided clinical testing The SRD5A2 c.145G>A variant is predicted to result in the amino acid substitution p.Ala49Thr. This variant has been reported in association with an increased risk of mild hypospadias (Rahimi et al. 2017. PubMed ID: 27848231; Silver and Russell. 1999. PubMed ID: 10458450; Thai et al. 2005. PubMed ID: 16174723). However, this variant is also reported in 2.8% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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