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NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND SRD5A2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003944795.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)]

NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)

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.680G>A (p.Arg227Gln)
Other names:
NM_000348.3(SRD5A2):c.680G>A(p.Arg227Gln)
HGVS:
  • NC_000002.12:g.31529325C>T
  • NG_008365.1:g.56647G>A
  • NM_000348.4:c.680G>AMANE SELECT
  • NP_000339.2:p.Arg227Gln
  • NC_000002.11:g.31754395C>T
  • NM_000348.3:c.680G>A
Protein change:
R227Q; ARG227GLN
Links:
OMIM: 607306.0016; dbSNP: rs9332964
NCBI 1000 Genomes Browser:
rs9332964
Molecular consequence:
  • NM_000348.4:c.680G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004762852PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Nov 16, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004762852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The SRD5A2 c.680G>A variant is predicted to result in the amino acid substitution p.Arg227Gln. This variant has been reported to be causative for steroid 5-alpha-reductase deficiency (OMIM #264600) in multiple affected individuals (Hiort et al. 1996. PubMed ID: 8784107; Kon et al. 2015. PubMed ID: 25605705; Nixon et al. 2017. PubMed ID: 28938747). This variant was reported to markedly reduce enzyme activity (Makridakis et al. 2000. PubMed ID: 10898110). This variant is reported in 0.67% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-31754395-C-T). This variant is interpreted as likely pathogenic.

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

Last Updated: Jun 23, 2024