NM_000475.4(NR0B1):c.1142T>A (p.Leu381His) AND Congenital adrenal hypoplasia, X-linked

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 18, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000011718.5

Allele description

NM_000475.4(NR0B1):c.1142T>A (p.Leu381His)

Gene:

NR0B1:nuclear receptor subfamily 0, group B, member 1 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_000475.4(NR0B1):c.1142T>A (p.Leu381His)

HGVS:

NC_000023.11:g.30308222A>T
NG_009814.1:g.6157T>A
NM_000475.4:c.1142T>A
NP_000466.2:p.Leu381His
NC_000023.10:g.30326339A>T

Protein change:

L381H; LEU381HIS

Links:

OMIM: 300473.0023; dbSNP: rs104894899

NCBI 1000 Genomes Browser:

rs104894899

Molecular consequence:

NM_000475.4:c.1142T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital adrenal hypoplasia, X-linked (AHC)
Synonyms:: ADDISON DISEASE, X-LINKED; ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHC WITH HHG; See all synonyms [MedGen]
Identifiers:: MedGen: C0342482; OMIM: 300200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031950	OMIM	no assertion criteria provided	Pathogenic (Sep 18, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031950

OMIM

no assertion criteria provided

Pathogenic
(Sep 18, 2012)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

Achermann JC, Silverman BL, Habiby RL, Jameson JL.

J Pediatr. 2000 Dec;137(6):878-81.

PubMed [citation]

PMID:: 11113848

Details of each submission

From OMIM, SCV000031950.1

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

Description

Achermann et al. (2000) identified a leu381-to-his (L381H) mutation in the DAX1 gene in 2 brothers who were variably affected with AHC (300200). The older brother presented in the first year of life, whereas the younger brother was asymptomatic and normally pigmented at 8 months of age. Although the younger brother had normal basal adrenal steroid concentrations, dynamic testing revealed that he had impaired adrenal reserves and therefore compensated primary adrenal failure. The mutation changes an amino acid located within the putative ligand-binding domain of the nuclear receptor.

#	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

Last Updated: Jul 1, 2015

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