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NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1993
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:
RCV000001235.2

Allele description [Variation Report for NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)]

NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)

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.347G>A (p.Trp116Ter)
HGVS:
  • NC_000008.11:g.142879080C>T
  • NG_007954.1:g.5741G>A
  • NG_046132.1:g.4947C>T
  • NM_000497.4:c.347G>AMANE SELECT
  • NM_001026213.1:c.347G>A
  • NP_000488.3:p.Trp116Ter
  • NP_001021384.1:p.Trp116Ter
  • NC_000008.10:g.143960496C>T
Protein change:
W116*; TRP116TER
Links:
OMIM: 610613.0006; dbSNP: rs104894066
NCBI 1000 Genomes Browser:
rs104894066
Molecular consequence:
  • NM_000497.4:c.347G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001026213.1:c.347G>A - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021385OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.

Naiki Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Toda K, Orii T, Imura H, Shizuta Y.

J Clin Endocrinol Metab. 1993 Dec;77(6):1677-82.

PubMed [citation]
PMID:
7903314

Details of each submission

From OMIM, SCV000021385.1

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

Description

In a 27-year-old Japanese man, born of consanguineous parents, with congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (202010), Naiki et al. (1993) identified a G-to-A transition in exon 2 of the CYP11B1 gene, resulting in a trp116-to-ter (W116X) substitution. The patient had a 46,XY karyotype and height of 145.6 cm. The diagnosis had been made at the age of 1 year when he was admitted to the hospital because of excessive growth, without complaints of poor feeding, nausea, or vomiting. He was treated with cortisol and later with dexamethasone.

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

Last Updated: Apr 23, 2022