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NM_000383.4(AIRE):c.878del (p.Gln293fs) AND Polyglandular autoimmune syndrome, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 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:
RCV003043826.3

Allele description [Variation Report for NM_000383.4(AIRE):c.878del (p.Gln293fs)]

NM_000383.4(AIRE):c.878del (p.Gln293fs)

Gene:
AIRE:autoimmune regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000383.4(AIRE):c.878del (p.Gln293fs)
HGVS:
  • NC_000021.9:g.44290067del
  • NG_009556.1:g.9188del
  • NM_000383.4:c.878delMANE SELECT
  • NP_000374.1:p.Gln293Argfs
  • NP_000374.1:p.Gln293fs
  • LRG_18t1:c.878del
  • LRG_18:g.9188del
  • LRG_18p1:p.Gln293Argfs
  • NC_000021.8:g.45709950del
  • NM_000383.2:c.878delA
Protein change:
Q293fs
Molecular consequence:
  • NM_000383.4:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Polyglandular autoimmune syndrome, type 1 (APS1)
Synonyms:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS I; PGA I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009411; MedGen: C0085859; Orphanet: 3453; OMIM: 240300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003341178Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 14, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

APECED mutations in the autoimmune regulator (AIRE) gene.

Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K.

Hum Mutat. 2001 Sep;18(3):205-11. Review.

PubMed [citation]
PMID:
11524731

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.

Kisand K, Peterson P.

J Clin Immunol. 2015 Jul;35(5):463-78. doi: 10.1007/s10875-015-0176-y. Epub 2015 Jul 5. Review.

PubMed [citation]
PMID:
26141571
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003341178.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln293Argfs*85) in the AIRE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).

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

Last Updated: Sep 29, 2024