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.1076C>T (p.Ala359Val)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA331121466

968664 (ClinVar)

Gene: IL2RG

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

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 29ffd490-f854-4103-be0a-7e8386433c85

Approved on: 2024-01-10

Published on: 2024-01-10

HGVS expressions

NM_000206.3:c.1076C>T

NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)

NC_000023.11:g.71107770G>A

CM000685.2:g.71107770G>A

NC_000023.10:g.70327620G>A

CM000685.1:g.70327620G>A

NC_000023.9:g.70244345G>A

NG_009088.1:g.8784C>T

NG_021141.1:g.4019C>T

ENST00000374202.7:c.1076C>T

ENST00000642473.1:n.1288+507C>T

ENST00000644022.1:n.1190+507C>T

ENST00000644708.1:n.1302+83C>T

ENST00000644911.1:n.1399+83C>T

ENST00000645266.1:c.924+507C>T

ENST00000645518.1:c.924+507C>T

ENST00000646106.1:c.993+83C>T

ENST00000646505.1:c.924+507C>T

ENST00000647492.1:c.924+507C>T

ENST00000276110.6:n.1669C>T

ENST00000374188.7:c.263C>T

ENST00000374202.6:c.1076C>T

ENST00000456850.6:c.506C>T

ENST00000482750.5:c.392C>T

ENST00000512747.3:n.1610C>T

NM_000206.2:c.1076C>T

Uncertain Significance

PM2

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.1076C>T is a missense variant predicted to cause substitution of Alanine by Valine at amino acid 359 (p.Ala359Val). The highest population minor allele frequency in gnomAD v4 is 0.0001453 (126/867358) in European Non-Finnish population (PM2_Supporting, BS1, and BA1 are not met). 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: None (VCEP specifications version 1).

PM2

The highest population minor allele frequency in gnomAD v4 is 0.0001453 (126/867358) in European Non-Finnish population (PM2_Supporting, BS1, and BA1 are not met).

Curation History

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