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NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 25, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000779553.14

Allele description [Variation Report for NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)]

NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)

Genes:
LOC106799833:CYP11B1 recombination region [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.449C>T (p.Ser150Leu)
HGVS:
  • NC_000008.11:g.142877169G>A
  • NG_007954.1:g.7652C>T
  • NG_046132.1:g.3036G>A
  • NM_000497.4:c.449C>TMANE SELECT
  • NM_001026213.1:c.449C>T
  • NP_000488.3:p.Ser150Leu
  • NP_000488.3:p.Ser150Leu
  • NP_001021384.1:p.Ser150Leu
  • NC_000008.10:g.143958585G>A
  • NM_000497.3:c.449C>T
Protein change:
S150L
Links:
dbSNP: rs142484434
NCBI 1000 Genomes Browser:
rs142484434
Molecular consequence:
  • NM_000497.4:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.449C>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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000916224Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)
Uncertain significance
(Jan 22, 2018)
germlineclinical testing

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

Citation Link,

SCV004215327Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 25, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11╬▓-hydroxylase deficiency.

Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Gr├Âtzinger J, Holterhus PM, Riepe FG.

Eur J Endocrinol. 2014 Apr 10;170(5):697-706. doi: 10.1530/EJE-13-0737. Print 2014 May.

PubMed [citation]
PMID:
24536089

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 Illumina Laboratory Services, Illumina, SCV000916224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CYP11B1 gene is the only gene in which variants are known to cause congenital adrenal hyperplasia. The CYP11B1 c.449C>T (p.Ser150Leu) missense variant has been reported in one study and is found in a compound heterozygous state with a frameshift variant in two siblings with congenital adrenal hyperplasia (Polat et al. 2014). The patients' clinical presentation is described as non-classic 11-beta-hydroxylase deficiency. Control data are unavailable for this variant, which is reported at a frequency of 0.00070 in the European American population of the Exome Sequencing Project. Transiently transfected HEK293 cells demonstrated that the 11-hydroxylase enzyme was partially impaired, with 19% activity compared to wild type. Based on the evidence, the p.Ser150Leu variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital adrenal hyperplasia.

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

From Baylor Genetics, SCV004215327.2

#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: Jul 7, 2024