NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Mar 3, 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:: RCV002279773.3

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)]

NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

Genes:

LOC106799833:CYP11B1 recombination region [Gene]
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

HGVS:

NC_000008.11:g.142875255_142875256dup
NG_007954.1:g.9566_9567dup
NG_046132.1:g.1122_1123dup
NM_000497.3:c.1179_1180dup
NM_000497.4:c.1179_1180dupMANE SELECT
NM_001026213.1:c.1179_1180dup
NP_000488.3:p.Asn394fs
NP_001021384.1:p.Asn394fs
NC_000008.10:g.143956669_143956670insTC
NC_000008.10:g.143956671_143956672dup
NM_000497.4:c.1179_1180dup

Protein change:

N394fs

Links:

OMIM: 610613.0005; dbSNP: rs758714890

NCBI 1000 Genomes Browser:

rs758714890

Molecular consequence:

NM_000497.4:c.1179_1180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001026213.1:c.1179_1180dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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PREDICTED: Ornithorhynchus anatinus torsin 1A interacting protein 2 (TOR1AIP2), ...
PREDICTED: Ornithorhynchus anatinus torsin 1A interacting protein 2 (TOR1AIP2), transcript variant X1, mRNA
gi|1998646577|ref|XM_007668949.4|

Nucleotide
PREDICTED: Sus scrofa multidrug resistance protein 1-like (LOC100623190), mRNA
PREDICTED: Sus scrofa multidrug resistance protein 1-like (LOC100623190), mRNA
gi|1191912320|ref|XM_021063963.1|

Nucleotide
PREDICTED: Sus scrofa uncharacterized LOC102160814 (LOC102160814), mRNA
PREDICTED: Sus scrofa uncharacterized LOC102160814 (LOC102160814), mRNA
gi|1191912333|ref|XM_021063969.1|

Nucleotide
PREDICTED: Sus scrofa translation initiation factor IF-2-like (LOC110255564), mR...
PREDICTED: Sus scrofa translation initiation factor IF-2-like (LOC110255564), mRNA
gi|1191912318|ref|XM_021063962.1|

Nucleotide
Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA
Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA
gi|1047225539|ref|NM_001201.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021384	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004190272	Clinical Biochemistry Laboratory, Health Services Laboratory	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 20, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005058663	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 3, 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

SCV000021384

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1992)

germline

literature only

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

SCV004190272

Clinical Biochemistry Laboratory, Health Services Laboratory

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 20, 2023)

germline

clinical testing

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

SCV005058663

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 3, 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	germline	yes	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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

Helmberg A, Ausserer B, Kofler R.

J Clin Endocrinol Metab. 1992 Nov;75(5):1278-81.

PubMed [citation]

PMID:: 1430088

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, SCV000021384.1

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

Description

In an 8-year-old boy of Turkish origin, born of consanguineous parents, with congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (202010), Helmberg et al. (1992) identified a homozygous 2-bp insertion in codon 394 in exon 7 of the CYP11B1 gene, resulting in a frameshift and a premature stop in codon 469, resulting in complete destruction of the enzyme's heme-binding domain. The patient had marked hypertension, precocious pseudopuberty, and completely virilized intersexual genitalia with a 46,XX karyotype. Ultrasound examination disclosed adrenal hyperplasia and the existence of a uterus and vagina ending in the proximal urethra. Four sibs of the patient died shortly after birth or in early childhood.

#	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 Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004190272.1

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

Description

ACMG:PVS1 PM2 PP3

#	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, SCV005058663.1

#	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: Sep 29, 2024

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