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NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter) AND X-linked severe combined immunodeficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2021
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:
RCV001866960.3

Allele description [Variation Report for NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)]

NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)

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.598C>T (p.Gln200Ter)
HGVS:
  • NC_000023.11:g.71109387G>A
  • NG_009088.1:g.7167C>T
  • NG_021141.1:g.2402C>T
  • NM_000206.3:c.598C>TMANE SELECT
  • NP_000197.1:p.Gln200Ter
  • LRG_150:g.7167C>T
  • NC_000023.10:g.70329237G>A
Protein change:
Q200*
Links:
dbSNP: rs2147748363
NCBI 1000 Genomes Browser:
rs2147748363
Molecular consequence:
  • NM_000206.3:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
X-linked severe combined immunodeficiency (SCIDX1)
Synonyms:
IMMUNODEFICIENCY 4; X-Linked Combined Immunodeficiency Diseases; Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010315; MedGen: C1279481; Orphanet: 276; OMIM: 300400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002121016Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 4, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH.

Blood. 1997 Mar 15;89(6):1968-77.

PubMed [citation]
PMID:
9058718

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP.

Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.

PubMed [citation]
PMID:
10794430
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002121016.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IL2RG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln200*) in the IL2RG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL2RG are known to be pathogenic (PMID: 9058718, 10794430).

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

Last Updated: Feb 20, 2024