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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)

CA16621485

418256 (ClinVar)

Gene: IL2RG

Condition: T-B+ severe combined immunodeficiency due to gamma chain deficiency

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 9131959d-286f-4ac3-ba67-ea324c6312a2

HGVS expressions

NM_000206.3:c.460C>T

NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)

NC_000023.11:g.71110290G>A

CM000685.2:g.71110290G>A

NC_000023.10:g.70330140G>A

CM000685.1:g.70330140G>A

NC_000023.9:g.70246865G>A

NG_009088.1:g.6264C>T

NG_021141.1:g.1499C>T

ENST00000374202.7:c.460C>T

ENST00000642473.1:n.824C>T

ENST00000644022.1:n.860+214C>T

ENST00000644708.1:n.866C>T

ENST00000644911.1:n.866C>T

ENST00000645266.1:c.460C>T

ENST00000645518.1:c.460C>T

ENST00000646106.1:c.460C>T

ENST00000646505.1:c.460C>T

ENST00000647492.1:c.460C>T

ENST00000276110.6:n.1053C>T

ENST00000374188.7:c.-257C>T

ENST00000374202.6:c.460C>T

ENST00000456850.6:c.25-900C>T

ENST00000464642.5:c.328C>T

ENST00000487883.1:c.424C>T

ENST00000512747.3:n.521+214C>T

NM_000206.2:c.460C>T

Uncertain Significance

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

NM_000206.3(IL2RG):c.460C>T is a missense variant predicted to cause substitution of Proline by Serine at amino acid 154 (p.Pro154Ser).The variant is absent in gnomAD v4 (PM2_supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with IL2RG related conditions or in functional studies. In summary, this variant meets the criteria to be classified as a variant of uncertain significance 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 (VCEP specifications version 1).

PM2_Supporting

The variant is absent in gnomAD v4 (PM2_supporting).

Approved on: 2024-01-10

Published on: 2024-01-10

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