Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)

CA413497082

1369885 (ClinVar)

Gene: IL2RG (HGNC:3561)

Condition: T-B+ severe combined immunodeficiency due to gamma chain deficiency (MONDO:0010315)

Inheritance Mode: X-linked inheritance

UUID: f4b6e37d-eb2c-4976-98a0-b17d680fac5d

Approved on: 2024-01-31

Published on: 2024-01-31

HGVS expressions

NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)

NM_000206.3:c.216C>A

NC_000023.11:g.71110950G>T

CM000685.2:g.71110950G>T

NC_000023.10:g.70330800G>T

CM000685.1:g.70330800G>T

NC_000023.9:g.70247525G>T

NG_009088.1:g.5604C>A

NG_021141.1:g.839C>A

ENST00000374202.7:c.216C>A

ENST00000642473.1:n.580C>A

ENST00000644022.1:n.622C>A

ENST00000644708.1:n.622C>A

ENST00000644911.1:n.622C>A

ENST00000645266.1:c.216C>A

ENST00000645518.1:c.216C>A

ENST00000646106.1:c.216C>A

ENST00000646505.1:c.216C>A

ENST00000647492.1:c.216C>A

ENST00000276110.6:n.601C>A

ENST00000374188.7:c.-501C>A

ENST00000374202.6:c.216C>A

ENST00000456850.6:c.24+475C>A

ENST00000464642.5:c.84C>A

ENST00000473378.1:c.153C>A

ENST00000487883.1:c.180C>A

ENST00000512747.3:n.283C>A

NM_000206.2:c.216C>A

Likely Pathogenic

PVS1 PM2_Supporting

Evidence Links 0

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

c.216C>A (p.Cys72Ter) (NM_000206.3) variant in IL2RG is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 2/8 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1 Met). The variant is absent in gnomAD v4 (PM2_supporting). There are no publications for this variant in the literature. In summary, this variant meets the criteria to be classified as a Likely Pathogenic variant for X-linked severe combined immunodeficiency due to IL2RG deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_supporting,PVS1 (VCEP specifications version 1).

PVS1

PM2_Supporting

The variant is absent in gnomAD v4 (PM2_supporting).

Curation History

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