NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) AND 3 beta-Hydroxysteroid dehydrogenase deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV001097134.6

Allele description [Variation Report for NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)]

NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)

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.707T>C (p.Leu236Ser)

HGVS:

NC_000001.11:g.119422208T>C
NG_013349.1:g.12278T>C
NM_000198.4:c.707T>CMANE SELECT
NM_001166120.2:c.707T>C
NP_000189.1:p.Leu236Ser
NP_001159592.1:p.Leu236Ser
NC_000001.10:g.119964831T>C
NM_000198.3:c.707T>C
P26439:p.Leu236Ser

Protein change:

L236S

Links:

UniProtKB: P26439#VAR_010533; dbSNP: rs35887327

NCBI 1000 Genomes Browser:

rs35887327

Molecular consequence:

NM_000198.4:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001166120.2:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001253388	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10599696, 9719627 Citation Link,
SCV002094672	Natera, Inc.	no assertion criteria provided	Benign (Nov 14, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001253388

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV002094672

Natera, Inc.

no assertion criteria provided

Benign
(Nov 14, 2019)

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

Citations

PubMed

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mébarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J.

J Clin Endocrinol Metab. 1999 Dec;84(12):4410-25.

PubMed [citation]

PMID:: 10599696

Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.

Nayak S, Lee PA, Witchel SF.

Mol Genet Metab. 1998 Jul;64(3):184-92.

PubMed [citation]

PMID:: 9719627

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001253388.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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

From Natera, Inc., SCV002094672.1

#	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: May 12, 2024

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