Evidence Repository
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_002185.5(IL7R):c.82+14A>T

CA116953176

2187538 (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: 934a323a-007c-42d1-9294-a57a20cc1309
Approved on: 2024-01-17
Published on: 2024-01-17

HGVS expressions

NM_002185.5:c.82+14A>T
NM_002185.5(IL7R):c.82+14A>T
NC_000005.10:g.35857073A>T
CM000667.2:g.35857073A>T
NC_000005.9:g.35857175A>T
CM000667.1:g.35857175A>T
NC_000005.8:g.35892932A>T
NG_009567.1:g.5185A>T
ENST00000303115.8:c.82+14A>T
ENST00000303115.7:c.82+14A>T
ENST00000506850.5:c.82+14A>T
ENST00000508941.5:c.82+14A>T
ENST00000511031.1:n.217-3779A>T
ENST00000511982.1:c.82+14A>T
ENST00000514217.5:c.82+14A>T
ENST00000515665.1:c.82+14A>T
NM_002185.3:c.82+14A>T
NR_120485.1:n.185+14A>T
NM_002185.4:c.82+14A>T
NR_120485.2:n.211+14A>T
NR_120485.3:n.169+14A>T
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Uncertain Significance

Met criteria codes 2
PM2_Supporting BP7
Not Met criteria codes 1
BS2

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 IL7R 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.82+14A>T (NM_002185.5) variant in IL7R is an intronic variant which locates in the deep intronic region in intron 1. It is not predicted to impact splicing by SpliceAI, varSEAK, and NNSplice. BP7 is met. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant is classified as uncertain significance for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): PM2_Supporting and BP7.
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
BP7
The c.82+14A>T (NM_002185.5) variant in IL7R is an intronic variant which locates in the deep intronic region in intron 1. It is not predicted to impact splicing by SpliceAI, varSEAK, and NNSplice. BP7 is met.
Not Met criteria codes
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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