NM_000348.4(SRD5A2):c.699-1G>A AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 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:: RCV003459922.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.699-1G>A]

NM_000348.4(SRD5A2):c.699-1G>A

Gene:

SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Preferred name:

NM_000348.4(SRD5A2):c.699-1G>A

HGVS:

NC_000002.12:g.31526263C>T
NG_008365.1:g.59709G>A
NG_008365.2:g.141746G>A
NM_000348.4:c.699-1G>AMANE SELECT
NC_000002.11:g.31751333C>T
NM_000348.3:c.699-1G>A

Molecular consequence:

NM_000348.4:c.699-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Recent activity

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WD repeat and SOCS box-containing protein 2 isoform 2 [Homo sapiens]
WD repeat and SOCS box-containing protein 2 isoform 2 [Homo sapiens]
gi|8923881|ref|NP_061109.1|

Protein
n-R5s139 nuclear encoded rRNA 5S 139 [Mus musculus]
n-R5s139 nuclear encoded rRNA 5S 139 [Mus musculus]
Gene ID:100861493

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190307	Clinical Biochemistry Laboratory, Health Services Laboratory	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 20, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21402750, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190307

Clinical Biochemistry Laboratory, Health Services Laboratory

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 20, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

Berra M, Williams EL, Muroni B, Creighton SM, Honour JW, Rumsby G, Conway GS.

Eur J Endocrinol. 2011 Jun;164(6):1019-25. doi: 10.1530/EJE-10-0930. Epub 2011 Mar 14.

PubMed [citation]

PMID:: 21402750

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 Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004190307.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

ACMG:PVS1 PM2 PM3 PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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