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NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 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:
RCV003607695.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)]

NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)

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.544C>T (p.Gln182Ter)
HGVS:
  • NC_000002.12:g.31531374G>A
  • NG_008365.1:g.54598C>T
  • NG_008365.2:g.136635C>T
  • NM_000348.4:c.544C>TMANE SELECT
  • NP_000339.2:p.Gln182Ter
  • NC_000002.11:g.31756444G>A
Protein change:
Q182*
Molecular consequence:
  • NM_000348.4:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (PPSH)
Synonyms:
Pseudovaginal perineoscrotal hypospadias; Male pseudohermaphroditism due to 5-alpha-reductase deficiency; Familial incomplete male pseudohermaphroditism, type 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009923; MedGen: C0268297; Orphanet: 753; OMIM: 264600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004386215Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 20, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred.

Thigpen AE, Davis DL, Gautier T, Imperato-McGinley J, Russell DW.

N Engl J Med. 1992 Oct 22;327(17):1216-9. No abstract available.

PubMed [citation]
PMID:
1406794

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.

Andersson S, Berman DM, Jenkins EP, Russell DW.

Nature. 1991 Nov 14;354(6349):159-61.

PubMed [citation]
PMID:
1944596
PMCID:
PMC4451825
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004386215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln182*) in the SRD5A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SRD5A2 are known to be pathogenic (PMID: 1406794, 1944596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SRD5A2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 28, 2024