NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 19, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000001232.8

Allele description [Variation Report for NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)]

NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)

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.953C>T (p.Thr318Met)

HGVS:

NC_000008.11:g.142876242G>A
NG_007954.1:g.8579C>T
NG_046132.1:g.2109G>A
NM_000497.4:c.953C>TMANE SELECT
NM_001026213.1:c.953C>T
NP_000488.3:p.Thr318Met
NP_000488.3:p.Thr318Met
NP_001021384.1:p.Thr318Met
NC_000008.10:g.143957658G>A
NM_000497.3:c.953C>T
P15538:p.Thr318Met

Protein change:

T318M; THR318MET

Links:

UniProtKB: P15538#VAR_001262; OMIM: 610613.0003; dbSNP: rs104894061

NCBI 1000 Genomes Browser:

rs104894061

Molecular consequence:

NM_000497.4:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001026213.1:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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
SCV000021382	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2009)	germline	literature only	Pascoe, L., Curnow, K. M., White, P. C. Mutations in the CYP11B1 (11-beta-hydroxylase) and CYP11B2 (aldosterone synthase) genes causing CMOII deficiency, 11-hydroxylase deficiency and glucocorticoid suppressible hyperaldosteronism. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A28, 1992.,
SCV000845234	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 7, 2018)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003927802	Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	no assertion criteria provided	Pathogenic (Apr 1, 2023)	germline	clinical testing
SCV004215333	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 19, 2024)	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	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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

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, SCV000021382.1

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

Description

In a patient with steroid 11-beta-hydroxylase deficiency leading to hypertension and congenital adrenal hyperplasia (202010), Pascoe et al. (1992) identified a mutation in the CYP11B1 gene, resulting in a thr318-to-met (T318M) substitution. In vitro functional expression studies in COS-1 cells showed that the substitution led to complete loss of 11-beta-hydroxylase 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000845234.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927802.1

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

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

From Baylor Genetics, SCV004215333.2

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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine