NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) AND Combined immunodeficiency, X-linked

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 15, 1997
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:: RCV000010710.2

Allele description

NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)

Gene:

IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)

HGVS:

NC_000023.11:g.71109321G>A
NG_009088.1:g.7233C>T
NG_021141.1:g.2468C>T
NM_000206.3:c.664C>TMANE SELECT
NP_000197.1:p.Arg222Cys
NP_000197.1:p.Arg222Cys
LRG_150t1:c.664C>T
LRG_150:g.7233C>T
LRG_150p1:p.Arg222Cys
NC_000023.10:g.70329171G>A
NM_000206.2:c.664C>T
P31785:p.Arg222Cys

Protein change:

R222C; ARG222CYS

Links:

UniProtKB: P31785#VAR_002688; OMIM: 308380.0012; dbSNP: rs111033618

NCBI 1000 Genomes Browser:

rs111033618

Molecular consequence:

NM_000206.3:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Combined immunodeficiency, X-linked (CIDX)
Synonyms:: IMMUNODEFICIENCY 6
Identifiers:: MONDO: MONDO:0010730; MedGen: CN030319; OMIM: 312863

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030936	OMIM	no assertion criteria provided	Pathogenic (Dec 15, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030936

OMIM

no assertion criteria provided

Pathogenic
(Dec 15, 1997)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

Sharfe N, Shahar M, Roifman CM.

J Clin Invest. 1997 Dec 15;100(12):3036-43.

PubMed [citation]

PMID:: 9399950
PMCID:: PMC508516

Details of each submission

From OMIM, SCV000030936.1

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

Description

In a 1-year-old Caucasian male with X-linked combined immunodeficiency (312863), Sharfe et al. (1997) identified an arg222-to-cys (R222C) mutation in the IL2RG gene. The mutation occurs in the extracellular domain of the protein, which was predicted to affect ligand binding. The authors noted that the mutation was distinctive in that the protein was stable enough to be expressed at the cell surface.

#	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: Aug 26, 2023

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