NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln) AND Hyperimmunoglobulin E syndrome

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 7, 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:: RCV000019967.26

Allele description

NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln)

Gene:

STAT3:signal transducer and activator of transcription 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln)

HGVS:

NC_000017.11:g.42329642C>T
NG_007370.1:g.63854G>A
NM_139276.2:c.1145G>A
NP_644805.1:p.Arg382Gln
LRG_112t1:c.1145G>A
LRG_112:g.63854G>A
LRG_112p1:p.Arg382Gln
NC_000017.10:g.40481660C>T
P40763:p.Arg382Gln

Protein change:

R382Q; ARG382GLN

Links:

UniProtKB: P40763#VAR_037366; OMIM: 102582.0003; dbSNP: rs113994136

NCBI 1000 Genomes Browser:

rs113994136

Molecular consequence:

NM_139276.2:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperimmunoglobulin E syndrome (AD-HIES)
Synonyms:: HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; Job's Syndrome; Autosomal Dominant Hyper IgE Syndrome
Identifiers:: MedGen: C3489795; Orphanet: 2314; OMIM: 147060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040265	OMIM	no assertion criteria provided	Pathogenic (Oct 18, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 17676033, 17881745
SCV000041587	GeneReviews	no assertion criteria provided	pathologic (Jun 7, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040265

OMIM

no assertion criteria provided

Pathogenic
(Oct 18, 2007)

germline

literature only

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

SCV000041587

GeneReviews

no assertion criteria provided

pathologic
(Jun 7, 2012)

not provided

curation

Help

Summary from all submissions

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

Citations

PubMed

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H.

Nature. 2007 Aug 30;448(7157):1058-62. Epub 2007 Aug 5.

PubMed [citation]

PMID:: 17676033

STAT3 mutations in the hyper-IgE syndrome.

Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, et al.

N Engl J Med. 2007 Oct 18;357(16):1608-19. Epub 2007 Sep 19.

PubMed [citation]

PMID:: 17881745

Details of each submission

From OMIM, SCV000040265.1

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

Description

In a Japanese patient with hyper-IgE syndrome (147060), Minegishi et al. (2007) identified heterozygosity for a 1145G-A transition in the STAT3 gene, resulting in an arg382-to-gln (R382Q) substitution.

In affected members of 4 families segregating hyper-IgE syndrome, Holland et al. (2007) identified heterozygosity for the R382Q mutation in the STAT3 gene. One of the families was black and 3 were white.

#	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

From GeneReviews, SCV000041587.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Nov 26, 2018

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