The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!


Variant: NM_000206.3(IL2RG):c.655T>C (p.Tyr219His)

CA413496034

1172577 (ClinVar)

Gene: IL2RG
Condition: T-B+ severe combined immunodeficiency due to gamma chain deficiency
Inheritance Mode: X-linked inheritance
UUID: b0ec33cf-c254-4450-8aa7-8611ff7797c7
Approved on: 2024-06-13
Published on: 2024-06-13

HGVS expressions

NM_000206.3:c.655T>C
NM_000206.3(IL2RG):c.655T>C (p.Tyr219His)
NC_000023.11:g.71109330A>G
CM000685.2:g.71109330A>G
NC_000023.10:g.70329180A>G
CM000685.1:g.70329180A>G
NC_000023.9:g.70245905A>G
NG_009088.1:g.7224T>C
NG_021141.1:g.2459T>C
ENST00000482750.6:c.655T>C
ENST00000696903.1:n.706T>C
ENST00000374202.7:c.655T>C
ENST00000642473.1:n.1019T>C
ENST00000644022.1:n.921T>C
ENST00000644708.1:n.1061T>C
ENST00000644911.1:n.1061T>C
ENST00000645266.1:c.655T>C
ENST00000645518.1:c.655T>C
ENST00000646106.1:c.655T>C
ENST00000646505.1:c.655T>C
ENST00000647492.1:c.655T>C
ENST00000276110.6:n.1248T>C
ENST00000374188.7:c.-62T>C
ENST00000374202.6:c.655T>C
ENST00000456850.6:c.85T>C
ENST00000464642.5:c.523T>C
ENST00000482750.5:c.68T>C
ENST00000512747.3:n.582T>C
NM_000206.2:c.655T>C
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Uncertain Significance

Met criteria codes 1
PM2_Supporting

Evidence Links 0

Expert Panel

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
The c.655T>C (NM_000206.3) variant in IL2RG is a missense variant predicted to cause substitution of Tyrosine by Histidine at amino acid 219 (p.Tyr219His). This variant is absent from gnomAD v4.1.0 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with SCID/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 T-B+ severe combined immunodeficiency due to gamma chain deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting (VCEP specifications version 1).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v4.1.0 (PM2_Supporting).
Curation History
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