NM_003331.4(TYK2):c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) AND Tyrosine kinase 2 deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000144052.3

Allele description

NM_003331.4(TYK2):c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer)

Gene:

TYK2:tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_003331.4(TYK2):c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer)

HGVS:

NC_000019.10:g.10358003_10358011delCCTCCCTGG
NG_007872.1:g.27562_27570delCCAGGGAGG
NM_003331.4:c.2303_2311delCCAGGGAGG
NP_003322.3:p.Ser768_Pro1105delinsTer
LRG_121t1:c.2303_2311delCCAGGGAGG
LRG_121:g.27562_27570delCCAGGGAGG
LRG_121p1:p.Ser768_Pro1105delinsTer
NC_000019.9:g.10468679_10468687delCCTCCCTGG

Links:

OMIM: 176941.0002; dbSNP: rs869320745

NCBI 1000 Genomes Browser:

rs869320745

Molecular consequence:

NM_003331.4:c.2303_2311delCCAGGGAGG - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:: Tyrosine kinase 2 deficiency (IMD35)
Synonyms:: HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; TYK2 DEFICIENCY; See all synonyms [MedGen]
Identifiers:: MedGen: C1969086; OMIM: 611521

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189112	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 22402565, 26304966

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189112

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2012)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, Casanova JL.

J Pediatr. 2012 Jun;160(6):1055-7. doi: 10.1016/j.jpeds.2012.01.056. Epub 2012 Mar 7. Erratum in: J Pediatr. 2012 Nov;161(5):974. J Pediatr. 2013 Mar;162(3):658.

PubMed [citation]

PMID:: 22402565
PMCID:: PMC3360808

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, et al.

J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.

PubMed [citation]

PMID:: 26304966
PMCID:: PMC4577846

Details of each submission

From OMIM, SCV000189112.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Turkish male, born of consanguineous parents, with IMD35 (611521), Kilic et al. (2012) identified a homozygous 9-bp deletion (c.2303_2311del) in exon 16 of the TYK2 gene, resulting in a frameshift and premature termination at codon 767. Western blot analysis of cells derived from the patient showed no detectable TYK2 protein. The patient had disseminated Bacille Calmette-Guerin (BCG) infection, neurobrucellosis, and cutaneous herpes zoster infection. Serum IgE was only mildly increased. Kilic et al. (2012) suggested that lack of TYK2 resulted in defective IL12 (see 161560) signaling and impaired production of gamma-interferon (IFNG; 147570).

Kreins et al. (2015) described the protein change brought about by this deletion as L767X.

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

Last Updated: Jul 21, 2018

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