U.S. flag

An official website of the United States government

NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:
Pathogenic (3 submissions)
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:
RCV000001245.5

Allele description [Variation Report for NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)]

NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)

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.281C>T (p.Pro94Leu)
HGVS:
  • NC_000008.11:g.142879146G>A
  • NG_007954.1:g.5675C>T
  • NM_000497.4:c.281C>TMANE SELECT
  • NM_001026213.1:c.281C>T
  • NP_000488.3:p.Pro94Leu
  • NP_000488.3:p.Pro94Leu
  • NP_001021384.1:p.Pro94Leu
  • NC_000008.10:g.143960562G>A
  • NM_000497.3:c.281C>T
  • P15538:p.Pro94Leu
  • p.PRO94LEU
Protein change:
P94L; PRO94LEU
Links:
UniProtKB: P15538#VAR_065666; OMIM: 610613.0016; dbSNP: rs104894070
NCBI 1000 Genomes Browser:
rs104894070
Molecular consequence:
  • NM_000497.4:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.281C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021395OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006)
germlineliterature only

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

SCV000793456Counsyl
no assertion criteria provided
Likely pathogenic
(Aug 16, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004215367Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 20, 2023)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.

Steroids. 2015 Aug;100:11-6. doi: 10.1016/j.steroids.2015.04.003. Epub 2015 Apr 21.

PubMed [citation]
PMID:
25911436

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.

J Clin Endocrinol Metab. 2005 Oct;90(10):5769-73. Epub 2005 Jul 26.

PubMed [citation]
PMID:
16046588
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000021395.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 1.8-year-old boy with CAH due to steroid 11-beta-hydroxylase deficiency (202010), Krone et al. (2006) identified compound heterozygosity for 2 mutations in the CYP11B1 gene: a 281C-T transition in exon 2 that resulted in a pro94-to-leu (P94L) substitution, and a 1103C-A transversion in exon 6 that resulted in an ala368-to-asp (A368D) substitution (610613.0017). In vitro expression studies in COS-7 cells revealed an almost complete absence of CYP11B1 activity for the P94L mutant to 0.05% for the conversion of 11-deoxycortisol to cortisol. The A368D mutant also resulted in severe reduction of CYP11B1 enzyme activity to 1.17%. According to structural analysis, only a minor effect of the P94L mutant on 11-hydroxylase activity was predicted, which contrasted with the observed major effect of this mutation both in vitro and in vivo. Krone et al. (2006) noted that the combination of in vitro enzyme function and molecular modeling may provide valuable insights in cytochrome P450 structural-functional relationships.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000793456.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004215367.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024