NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Oct 30, 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:: RCV000001238.3

Allele description [Variation Report for NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)]

NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)

Gene:

CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)

HGVS:

NC_000008.11:g.142879690G>A
NG_007954.1:g.5131C>T
NG_055454.1:g.68G>A
NM_000497.4:c.124C>TMANE SELECT
NM_001026213.1:c.124C>T
NP_000488.3:p.Pro42Ser
NP_000488.3:p.Pro42Ser
NP_001021384.1:p.Pro42Ser
NC_000008.10:g.143961106G>A
NM_000497.3:c.124C>T
P15538:p.Pro42Ser

Protein change:

P42S; PRO42SER

Links:

UniProtKB: P15538#VAR_001260; OMIM: 610613.0009; dbSNP: rs104894069

NCBI 1000 Genomes Browser:

rs104894069

Molecular consequence:

NM_000497.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001026213.1:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021388	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004215325	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 30, 2023)	unknown	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

SCV000021388

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1997)

germline

literature only

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

SCV004215325

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 30, 2023)

unknown

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	unknown	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

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC.

Hum Mol Genet. 1997 Oct;6(11):1829-34.

PubMed [citation]

PMID:: 9302260

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, SCV000021388.1

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

Description

In a patient with partial steroid 11-beta-hydroxylase deficiency (202010), Joehrer et al. (1997) identified compound heterozygosity for 2 mutations in the CYP11B1 gene: a pro42-to-ser (P42S) substitution and a nonsense mutation (Y423X; 610613.0015). The patient, diagnosed at 5 years of age with an advanced bone age of 12 years, was in the 75th percentile for height and had acne and precocious puberty. The proline at codon 42 is conserved in all CYP11B isozymes and in rather distantly related enzymes such as P450cam (EC 1.14.15.1). A mutation at the corresponding position in CYP21 (P30L; 201910.0004) causes mild 21-hydroxylase deficiency. The protein carrying the P42S mutation retained partial enzyme activity.

#	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 Baylor Genetics, SCV004215325.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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