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NM_000383.4(AIRE):c.440C>T (p.Thr147Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 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:
RCV003126273.3

Allele description [Variation Report for NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)]

NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)

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.440C>T (p.Thr147Ile)
HGVS:
  • NC_000021.9:g.44287110C>T
  • NG_009556.1:g.6231C>T
  • NM_000383.4:c.440C>TMANE SELECT
  • NP_000374.1:p.Thr147Ile
  • NP_000374.1:p.Thr147Ile
  • LRG_18t1:c.440C>T
  • LRG_18:g.6231C>T
  • LRG_18p1:p.Thr147Ile
  • NC_000021.8:g.45706993C>T
  • NM_000383.2:c.440C>T
Protein change:
T147I
Molecular consequence:
  • NM_000383.4:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003802838Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL CNVClassificationCriteria Aug2020)		Uncertain significance
(Oct 10, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV003802838.1

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

Description

The AIRE c.440C>T (p.Thr147Ile) missense variant results in the substitution of threonine at amino acid position 147 with isoleucine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.440C>T (p.Thr147Ile) variant is classified as a variant of uncertain significance for autoimmune polyendocrinopathy syndrome.

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

Last Updated: Sep 29, 2024