NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) AND 3 beta-Hydroxysteroid dehydrogenase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 28, 2020
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:: RCV001833816.1

Allele description [Variation Report for NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)]

NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)

Gene:

HSD3B2:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p12

Genomic location:

Preferred name:

NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)

HGVS:

NC_000001.11:g.119422432C>T
NG_013349.1:g.12502C>T
NM_000198.4:c.931C>TMANE SELECT
NM_001166120.2:c.931C>T
NP_000189.1:p.Gln311Ter
NP_001159592.1:p.Gln311Ter
NC_000001.10:g.119965055C>T
NM_000198.3:c.931C>T

Protein change:

Q311*

Links:

dbSNP: rs781213951

NCBI 1000 Genomes Browser:

rs781213951

Molecular consequence:

NM_000198.4:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001166120.2:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: 3 beta-Hydroxysteroid dehydrogenase deficiency
Synonyms:: Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008727; MeSH: C538236; MedGen: C0342471; OMIM: 201810

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002094676	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Feb 28, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002094676

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Feb 28, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094676.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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