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NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 25, 2019
Accession:
VCV000379319.7
Variation ID:
379319
Description:
single nucleotide variant
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NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)

Allele ID
378471
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 44286698 (GRCh38) GRCh38 UCSC
21: 45706581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.45706581C>T
NC_000021.9:g.44286698C>T
NM_000383.4:c.274C>T MANE Select NP_000374.1:p.Arg92Trp missense
... more HGVS
Protein change
R92W
Other names
-
Canonical SPDI
NC_000021.9:44286697:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA16608527
dbSNP: rs140630532
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 25, 2019 RCV000666247.6
Pathogenic 1 criteria provided, single submitter May 9, 2018 RCV000425106.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AIRE - - GRCh38
GRCh37
536 625

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 09, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000516083.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R92W missense variant in the AIRE gene has been reported previously in two compoundheterozygous individals with APS1 (Magitta et al., 2008). R92W was not … (more)
Pathogenic
(Feb 20, 2019)
criteria provided, single submitter
Method: clinical testing
Polyglandular autoimmune syndrome, type 1
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696653.3
Submitted: (Sep 24, 2019)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: AIRE c.274C>T (p.Arg92Trp) results in a non-conservative amino acid change located in the HSR domain of the encoded protein sequence. Five of five … (more)
Pathogenic
(Jul 25, 2019)
criteria provided, single submitter
Method: clinical testing
Polyglandular autoimmune syndrome, type 1
Allele origin: germline
Invitae
Accession: SCV001405378.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces arginine with tryptophan at codon 92 of the AIRE protein (p.Arg92Trp). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Apr 04, 2018)
no assertion criteria provided
Method: clinical testing
Polyglandular autoimmune syndrome, type 1
Allele origin: unknown
Counsyl
Accession: SCV000790506.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (5)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. Zaidi G Endocrine connections 2017 PMID: 28446514
AIRE-mutations and autoimmune disease. Bruserud Ø Current opinion in immunology 2016 PMID: 27504588
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. Al-Mousa H The Journal of allergy and clinical immunology 2016 PMID: 26915675
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. Wolff AS Journal of clinical immunology 2013 PMID: 24158785
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation. Capalbo D International journal of endocrinology 2012 PMID: 23133448
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. Meloni A The Journal of clinical endocrinology and metabolism 2008 PMID: 18728167
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. F Magitta N European journal of endocrinology 2008 PMID: 18426830

Text-mined citations for rs140630532...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021