Is IRF7 p.Arg37= (c.111C>T) pathogenic?

IRF7 p.Arg37= (c.111C>T) is classified Likely benign in IRF7 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-24). No allele count reported in gnomAD v4.1 (AN 1,604,204); Associated with immunodeficiency 39.

What condition is associated with IRF7 p.Arg37= (c.111C>T)?

IRF7 p.Arg37= (c.111C>T) is associated with immunodeficiency 39 (ClinVar).

How common is IRF7 p.Arg37= (c.111C>T) in the general population?

IRF7 p.Arg37= (c.111C>T) is no allele count reported in gnomAD v4.1 (AN 1,604,204) (gnomAD).

IRF7 p.Arg37=

Q: How is Predisposition to severe viral infection due to IRF7 deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.111C>T · rs760200429 · VCV1932146

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,604,204)

Conditions

immunodeficiency 39

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.4	GERP -0.93, phastCons 1
Overall
CADD	6.897	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,604,204). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: IRF7
Protein: p.Arg37=
Coding: c.111C>T
MANE Select: NM_001572
dbSNP: rs760200429
Type: single nucleotide variant
Location: chr11:615169 (GRCh38)
Gene constraint: LOEUF 1.766 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 70.10 · 1 PDB
Residue 37: a DNA-binding region; a UniProt-annotated variant site (no effect on ifnb induction upon sendai virus infection)

Full IRF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

immunodeficiency 39 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Predisposition to severe viral infection due to IRF7 deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: All ages

Similar variants

IRF7 p.Arg37His Benign/Likely benign ★★ same residue
IRF7 p.Arg37Cys Uncertain significance ★ ⚠ same residue
IRF7 c.20+39G>C Uncertain significance ★★ same condition
IRF7 c.21-16G>A Uncertain significance ★★ same condition
IRF7 c.21-19C>T Uncertain significance ★★ same condition
IRF7 c.848-1G>C Uncertain significance ★★ same condition
IRF7 p.Ala145Thr Uncertain significance ★★ ⚠ same condition
IRF7 p.Ala251Pro Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/irf7-p-arg37 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown