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NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 19, 2011
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:
RCV000583779.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)]

NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)

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.205G>T (p.Ala69Ser)
HGVS:
  • NC_000002.12:g.31580696C>A
  • NG_008365.1:g.5276G>T
  • NM_000348.4:c.205G>TMANE SELECT
  • NP_000339.2:p.Ala69Ser
  • NC_000002.11:g.31805766C>A
  • NM_000348.3:c.205G>T
Protein change:
A69S
Links:
dbSNP: rs1553329443
NCBI 1000 Genomes Browser:
rs1553329443
Molecular consequence:
  • NM_000348.4:c.205G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000692380Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Apr 19, 2011) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692380.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022