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_002185.5(IL7R):c.553A>T (p.Ser185Cys)

CA16602559

376098 (ClinVar)

Gene: IL7R

Condition: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: c7753bcf-fb7f-4de9-aede-fd74478b3a92

HGVS expressions

NM_002185.5:c.553A>T

NM_002185.5(IL7R):c.553A>T (p.Ser185Cys)

NC_000005.10:g.35873495A>T

CM000667.2:g.35873495A>T

NC_000005.9:g.35873597A>T

CM000667.1:g.35873597A>T

NC_000005.8:g.35909354A>T

NG_009567.1:g.21607A>T

ENST00000303115.8:c.553A>T

ENST00000303115.7:c.553A>T

ENST00000506850.5:c.553A>T

ENST00000509668.1:n.295A>T

ENST00000514217.5:c.538-2017A>T

NM_002185.3:c.553A>T

NR_120485.1:n.641-2017A>T

NM_002185.4:c.553A>T

NR_120485.2:n.667-2017A>T

NR_120485.3:n.625-2017A>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 IL7R Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

NM_002185.5(IL7R):c.553A>T is a missense variant predicted to cause substitution of Serine by Cysteine at amino acid 185 (p.Ser185Cys). 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 variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to IL7R 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: 2024-03-20

Published on: 2024-03-20

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