NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer) AND multiple conditions

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 11, 2023
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:: RCV003802477.1

Allele description

NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)

HGVS:

NC_000023.11:g.30308915_30308949del
NG_009814.1:g.5433_5467del
NG_148452.1:g.417_451del
NM_000475.5:c.418_452delMANE SELECT
NP_000466.2:p.His139_Pro140insTer
LRG_858t1:c.418_452del
LRG_858:g.5433_5467del
LRG_858p1:p.His139_Pro140insTer
NC_000023.10:g.30327029_30327063del
NC_000023.10:g.30327032_30327066del

Molecular consequence:

NM_000475.5:c.418_452del - nonsense - [Sequence Ontology: SO:0001587]

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

Name:: 46,XY sex reversal 2
Synonyms:: Dosage-sensitive sex reversal; 46,XY SEX REVERSAL, DAX1-RELATED; NR0B1-Related 46,XY CGD; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010226; MedGen: C1848296; OMIM: 300018

Recent activity

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AGENCOURT_18792183 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7205942 5', mR...
AGENCOURT_18792183 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7205942 5', mRNA sequence
gi|42808984|gnl|dbEST|21699090|gb|C 88.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004605676	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 11, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 7990958, 15841486, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004605676

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 11, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, et al.

Nature. 1994 Dec 15;372(6507):672-6.

PubMed [citation]

PMID:: 7990958

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.

Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG.

Hum Mutat. 2005 May;25(5):502-3.

PubMed [citation]

PMID:: 15841486

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004605676.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Pro140*) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NR0B1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 5, 2024

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