NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 18, 2019
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:: RCV001008594.1

Allele description [Variation Report for NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)]

NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)

HGVS:

NC_000023.11:g.71110940_71110941insAGCA
NG_009088.1:g.5613_5614insTGCT
NG_021141.1:g.848_849insTGCT
NM_000206.3:c.225_226insTGCTMANE SELECT
NP_000197.1:p.Ser76delinsCysTer
LRG_150t1:c.225_226insTGCT
LRG_150:g.5613_5614insTGCT
NC_000023.10:g.70330790_70330791insAGCA
NM_000206.2:c.225_226insTGCT

Links:

dbSNP: rs1602289631

NCBI 1000 Genomes Browser:

rs1602289631

Molecular consequence:

NM_000206.3:c.225_226insTGCT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168367	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 18, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168367

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 18, 2019)

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, SCV001168367.1

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

Description

The c.225_226insTGCT variant in the IL2RG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.225_226insTGCT variant causes a frameshift starting with codon Serine 76, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ser76CysfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.225_226insTGCT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.225_226insTGCT as a pathogenic variant.

#	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: Sep 29, 2024

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