NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) AND Congenital adrenal hypoplasia, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2017
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:: RCV000761451.2

Allele description [Variation Report for NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])]

NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])

HGVS:

NC_000023.11:g.30308504ACCAGC[1]
NG_009814.1:g.5866TGGTGC[1]
NM_000475.5:c.851TGGTGC[1]MANE SELECT
NP_000466.2:p.284LV[1]
LRG_858t1:c.851TGGTGC[1]
LRG_858:g.5866TGGTGC[1]
LRG_858p1:p.284LV[1]
NC_000023.10:g.30326621ACCAGC[1]
NM_000475.4:c.857_862del

Links:

dbSNP: rs1601792367

NCBI 1000 Genomes Browser:

rs1601792367

Molecular consequence:

NM_000475.5:c.851TGGTGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000891538	Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	no assertion criteria provided	Pathogenic (Dec 30, 2017)	unknown	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891538

Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

no assertion criteria provided

Pathogenic
(Dec 30, 2017)

unknown

curation

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	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

Walker AP, Fowkes RC, Saleh F, Kim SH, Wilkinson P, Cabrera-Sharp V, Talmud PJ, Humphries SE, Looijenga LH, Bouloux PM.

Sex Dev. 2012;6(6):284-91. doi: 10.1159/000342295. Epub 2012 Sep 27.

PubMed [citation]

PMID:: 23018754

Details of each submission

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891538.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 3, 2023

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