NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000668755.1

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)]

NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)

HGVS:

NC_000008.11:g.142875254del
NG_007954.1:g.9568del
NG_046132.1:g.1121del
NM_000497.4:c.1181delMANE SELECT
NM_001026213.1:c.1181del
NP_000488.3:p.Asn394fs
NP_001021384.1:p.Asn394fs
NC_000008.10:g.143956669del
NC_000008.10:g.143956670del
NM_000497.3:c.1181delA

Protein change:

N394fs

Links:

dbSNP: rs1256580853

NCBI 1000 Genomes Browser:

rs1256580853

Molecular consequence:

NM_000497.4:c.1181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001026213.1:c.1181del - 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

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Streptomyces albus strain UL28f 16S ribosomal RNA gene, partial sequence
Streptomyces albus strain UL28f 16S ribosomal RNA gene, partial sequence
gi|1036343325|gb|KX352082.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793405	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Aug 15, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793405

Counsyl

criteria provided, single submitter

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

Pathogenic
(Aug 15, 2017)

unknown

clinical testing

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

Citation Link

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

Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.

Cerame BI, Newfield RS, Pascoe L, Curnow KM, Nimkarn S, Roe TF, New MI, Wilson RC.

J Clin Endocrinol Metab. 1999 Sep;84(9):3129-34.

PubMed [citation]

PMID:: 10487675

Details of each submission

From Counsyl, SCV000793405.1

#	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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