NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 5, 2016
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:: RCV000259705.1

Allele description [Variation Report for NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs)]

NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs)

Gene:

AIRE:autoimmune regulator [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs)

HGVS:

NC_000021.9:g.44286623_44286626delinsTGG
NG_009556.1:g.5744_5747delinsTGG
NM_000383.4:c.199_202delinsTGGMANE SELECT
NP_000374.1:p.Leu67fs
LRG_18t1:c.199_202delCTGAinsTGG
LRG_18:g.5744_5747delinsTGG
NC_000021.8:g.45706506_45706509delinsTGG
NM_000383.2:c.199_202delCTGAinsTGG

Protein change:

L67fs

Links:

dbSNP: rs886041123

NCBI 1000 Genomes Browser:

rs886041123

Molecular consequence:

NM_000383.4:c.199_202delinsTGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329053	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329053

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 5, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000329053.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.199_202delCTGAinsTGG pathogenic variant in the AIRE gene causes a frameshift starting with codon Leucine 67, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 149 of the new reading frame, denoted p.Leu67TrpfsX149. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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