NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 29, 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:: RCV000667465.3

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)]

NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)

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.1151G>A (p.Arg384Gln)

HGVS:

NC_000008.11:g.142875283C>T
NG_007954.1:g.9538G>A
NG_046132.1:g.1150C>T
NM_000497.4:c.1151G>AMANE SELECT
NM_001026213.1:c.1151G>A
NP_000488.3:p.Arg384Gln
NP_000488.3:p.Arg384Gln
NP_001021384.1:p.Arg384Gln
NC_000008.10:g.143956699C>T
NM_000497.3:c.1151G>A

Protein change:

R384Q

Links:

dbSNP: rs764598023

NCBI 1000 Genomes Browser:

rs764598023

Molecular consequence:

NM_000497.4:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001026213.1:c.1151G>A - 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; ADRENAL HYPERPLASIA IV; 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
SCV000791918	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 31, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 26956189, 15751602, 20089618, 28228528, 8506298 Citation Link,
SCV004215363	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 29, 2024)	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

SCV000791918

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(May 31, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV004215363

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 29, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):57-63. doi: 10.1016/j.jsbmb.2016.03.006. Epub 2016 Mar 5.

PubMed [citation]

PMID:: 26956189

Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC.

J Pediatr Endocrinol Metab. 2005 Feb;18(2):133-42.

PubMed [citation]

PMID:: 15751602

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000791918.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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

From Baylor Genetics, SCV004215363.2

#	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: May 16, 2025

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