NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 9, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000425106.2

Allele description [Variation Report for NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)]

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

Gene:
AIRE:autoimmune regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
HGVS:
  • NC_000021.9:g.44286698C>T
  • NG_009556.1:g.5819C>T
  • NM_000383.4:c.274C>TMANE SELECT
  • NP_000374.1:p.Arg92Trp
  • LRG_18t1:c.274C>T
  • LRG_18:g.5819C>T
  • NC_000021.8:g.45706581C>T
  • NM_000383.2:c.274C>T
  • NM_000383.3:c.274C>T
Protein change:
R92W
Links:
dbSNP: rs140630532
NCBI 1000 Genomes Browser:
rs140630532
Molecular consequence:
  • NM_000383.4:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000516083GeneDxcriteria provided, single submitter
Pathogenic
(May 9, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516083.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 observed with any significantfrequency in the NHLBI Exome Sequencing Project. In addition, missense variants in nearby residues(L87P, Y90C, L93R, L97P) have been reported in the Human Gene Mutation Database in association with APECED (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret this variant as pathogenic.

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

Last Updated: Jun 14, 2021

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