Is IL17RA p.Arg34= (c.100C>A) pathogenic?

IL17RA p.Arg34= (c.100C>A) is classified Likely benign in IL17RA (ClinVar, Single submitter, 1 submitter; last evaluated 2019-12-18). Very rare (popmax 0.00599%, amr); Associated with immunodeficiency 51.

What condition is associated with IL17RA p.Arg34= (c.100C>A)?

IL17RA p.Arg34= (c.100C>A) is associated with immunodeficiency 51 (ClinVar).

How common is IL17RA p.Arg34= (c.100C>A) in the general population?

IL17RA p.Arg34= (c.100C>A) is very rare (popmax 0.00599%, amr) (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

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

IL17RA p.Arg34=

c.100C>A · rs1387278734 · VCV1146120

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00599%, amr)

Conditions

immunodeficiency 51

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.22	GERP -0.94, phastCons 0.078
Overall
CADD	11.65	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00599% Admixed American · 3/50,100 alleles

Filtering AF 0.00159% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00084%

Overall 0.000327% 5/1,528,200 alleles · very rare exomes 2/1,376,160 · genomes 3/152,040 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00599%	16,700
African / African-American	0.00281%	35,633

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: IL17RA
Protein: p.Arg34=
Coding: c.100C>A
MANE Select: NM_014339
dbSNP: rs1387278734
Type: single nucleotide variant
Location: chr22:17085191 (GRCh38)
Gene constraint: LOEUF 0.897 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 70.33 · 10 PDB
Residue 34: a β-strand

Full IL17RA gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

immunodeficiency 51 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Chronic mucocutaneous candidiasis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Childhood, Infancy

Similar variants

IL17RA p.Arg66Ter Pathogenic/Likely pathogenic ★★ same condition
IL17RA c.598+5C>T Uncertain significance ★★ same condition
IL17RA c.*2141C>T Uncertain significance ★★ same condition
IL17RA p.Ala299Thr Uncertain significance ★★ ⚠ same condition
IL17RA p.Ala3Val Uncertain significance ★★ ⚠ same condition
IL17RA p.Ala419Gly Uncertain significance ★★ ⚠ same condition
IL17RA p.Ala463Thr Uncertain significance ★★ ⚠ same condition
IL17RA p.Ala519Val 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/il17ra-p-arg34 (accessed [today's date]).

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