NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) AND Congenital adrenal hypoplasia, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2000
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:: RCV000011704.3

Allele description [Variation Report for NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)]

NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)

HGVS:

NC_000023.11:g.30304673T>A
NG_009814.1:g.9706A>T
NM_000475.5:c.1319A>TMANE SELECT
NP_000466.2:p.Asn440Ile
LRG_858t1:c.1319A>T
LRG_858:g.9706A>T
LRG_858p1:p.Asn440Ile
NC_000023.10:g.30322790T>A
P51843:p.Asn440Ile

Protein change:

N440I; ASN440ILE

Links:

UniProtKB: P51843#VAR_004746; OMIM: 300473.0008; dbSNP: rs28935481

NCBI 1000 Genomes Browser:

rs28935481

Molecular consequence:

NM_000475.5:c.1319A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital adrenal hypoplasia, X-linked (AHC)
Synonyms:: ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; X-linked AHC; Adrenal hypoplasia, congenital; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010264; MedGen: C0342482; OMIM: 300200

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
SCV000031936	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2000)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 6891556, 9003500, 10848616, 9415399

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031936

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2000)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

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

X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.

Petersen KE, Bille T, Jacobsen BB, Iversen T.

Acta Paediatr Scand. 1982 Nov;71(6):947-51.

PubMed [citation]

PMID:: 6891556

X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

Schwartz M, Blichfeldt S, Müller J.

Hum Genet. 1997 Jan;99(1):83-7.

PubMed [citation]

PMID:: 9003500

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000031936.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

In 5 male patients with AHC (300200) from the Greenlandic family originally reported by Petersen et al. (1982), Schwartz et al. (1997) identified a 1553A-T transversion in the NR0B1 gene, resulting in an asn440-to-ile (N440I) substitution. The substitution represented change from a polar amino acid to a nonpolar amino acid. Both patients who had reached the age of puberty exhibited hypogonadotropic hypogonadism. The authors noted that among 33 female relatives at risk for the mutation, they identified 10 as carriers and excluded 23 from being carriers, information important for genetic counseling.

Lalli et al. (2000) determined that the N440I mutation results in impaired RNA-binding activity of the DAX1 protein (see also Lalli et al., 1997 and 300473.0004).

#	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: Apr 23, 2022

ClinVar

Relating variation to medicine