NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys) AND Congenital bile acid synthesis defect 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 5, 2022
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:: RCV000003018.8

Allele description [Variation Report for NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)]

NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)

Gene:

HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)

HGVS:

NC_000016.10:g.30986612G>A
NG_012346.1:g.6415G>A
NG_052948.1:g.34319G>A
NM_001142777.2:c.439G>A
NM_001142778.2:c.439G>A
NM_025193.4:c.439G>AMANE SELECT
NP_001136249.1:p.Glu147Lys
NP_001136250.1:p.Glu147Lys
NP_079469.2:p.Glu147Lys
NC_000016.9:g.30997933G>A
Q9H2F3:p.Glu147Lys

Protein change:

E147K; GLU147LYS

Links:

UniProtKB: Q9H2F3#VAR_054776; OMIM: 607764.0004; dbSNP: rs104894518

NCBI 1000 Genomes Browser:

rs104894518

Molecular consequence:

NM_001142777.2:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142778.2:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_025193.4:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital bile acid synthesis defect 1 (CBAS1)
Synonyms:: 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of; 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
Identifiers:: MONDO: MONDO:0011906; MedGen: C1843116; Orphanet: 79301; OMIM: 607765

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023176	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003825256	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023176

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2003)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV003825256

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 5, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW.

J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41.

PubMed [citation]

PMID:: 12679481

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 OMIM, SCV000023176.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 French families with neonatal cholestasis caused by C27 3-beta-HSD deficiency (CBAS1; 607765), Cheng et al. (2003) found a missense mutation in HSD3B7, glu147 to lys (E147K). The amino acid substitution resulted from a G-to-A transition in exon 4. Although an apparently stable mRNA of normal abundance was transcribed from the mutant gene, no enzyme activity was detected in transfected cells. Glutamate-147 is conserved among all members of the 3-beta-HSD enzyme family in human, mouse, and rat.

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

From Revvity Omics, Revvity, SCV003825256.2

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

#	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: Mar 16, 2024

ClinVar

Relating variation to medicine