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NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly) AND NR0B1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 2022
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:
RCV004529799.1

Allele description [Variation Report for NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)]

NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)

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.1273A>G (p.Arg425Gly)
HGVS:
  • NC_000023.11:g.30304719T>C
  • NG_009814.1:g.9660A>G
  • NM_000475.5:c.1273A>GMANE SELECT
  • NP_000466.2:p.Arg425Gly
  • LRG_858t1:c.1273A>G
  • LRG_858:g.9660A>G
  • LRG_858p1:p.Arg425Gly
  • NC_000023.10:g.30322836T>C
  • NM_000475.4:c.1273A>G
Protein change:
R425G
Molecular consequence:
  • NM_000475.5:c.1273A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
NR0B1-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004110443PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004110443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The NR0B1 c.1273A>G variant is predicted to result in the amino acid substitution p.Arg425Gly. This variant has been reported in an individual with X-linked adrenal hypoplasia, and functional studied support its pathogenicity (Zhang et al. 1998. PubMed ID: 9529340; Achermann et al. 2001. PubMed ID: 11443184; Lehmann et al. 2003. PubMed ID: 12700175). In addition, different substitutions affecting the same amino acid (p.Arg425Thr and p.Arg425Ile) were reported to be pathogenic for adrenal hypoplasia (Lumaka. 2012. PubMed ID: 21739173; Achermann. 2001. PubMed ID: 11443184). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024