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NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) AND SRD5A2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 20, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004755953.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)]

NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)

Gene:
SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.1
Genomic location:
Preferred name:
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
HGVS:
  • NC_000002.12:g.31526224C>T
  • NG_008365.1:g.59748G>A
  • NM_000348.4:c.737G>AMANE SELECT
  • NP_000339.2:p.Arg246Gln
  • NC_000002.11:g.31751294C>T
  • NM_000348.3:c.737G>A
Protein change:
R246Q
Links:
dbSNP: rs9332967
NCBI 1000 Genomes Browser:
rs9332967
Molecular consequence:
  • NM_000348.4:c.737G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SRD5A2-related disorder
Synonyms:
SRD5A2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005345539PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 20, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005345539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SRD5A2 c.737G>A variant is predicted to result in the amino acid substitution p.Arg246Gln. This variant has been reported in the homozygous and compound heterozygous states in multiple individuals with steroid 5-alpha-reductase deficiency (see for example, Table 1, Thigpen et al. 1992. PubMed ID: 1522235; Table 3, Ko et al. 2010. PubMed ID: 20190539; Table 3, Jia et al. 2018. PubMed ID: 29643321). This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD. An alternate nucleotide substitution affecting the same amino acid (p.Arg246Trp) has been reported in multiple individuals with steroid 5-alpha-reductase deficiency (Table 1, Abacı et al. 2018. PubMed ID: 30132287). The c.737G>A (p.Arg246Gln) variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024