Is IL17RC p.Pro4= (c.12C>G) pathogenic?

IL17RC p.Pro4= (c.12C>G) is classified Benign/Likely benign in IL17RC (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-20). Low-frequency (popmax 2.97%, eas); Associated with candidiasis, familial, 9.

What condition is associated with IL17RC p.Pro4= (c.12C>G)?

IL17RC p.Pro4= (c.12C>G) is associated with candidiasis, familial, 9 (ClinVar).

How common is IL17RC p.Pro4= (c.12C>G) in the general population?

IL17RC p.Pro4= (c.12C>G) is low-frequency (popmax 2.97%, eas) (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

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

IL17RC p.Pro4=

c.12C>G · rs144276462 · VCV789131

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.97%, eas)

Conditions

candidiasis, familial, 9

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 0.84	GERP 0.34, phastCons 1
Overall
CADD	15.98	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.97% East Asian · 1,333/44,854 alleles

Filtering AF 2.84% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.79%

Overall 0.0843% 1,360/1,613,348 alleles · low-frequency exomes 1,282/1,461,098 · genomes 78/152,250 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	2.97%	34
Remaining individualsnot grpmax-eligible	0.0208%	4,804
Admixed American	0.00334%	29,955
European (non-Finnish)	0.00102%	98,300

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: IL17RC
Protein: p.Pro4=
Coding: c.12C>G
MANE Select: NM_153460
dbSNP: rs144276462
Type: single nucleotide variant
Location: chr3:9917327 (GRCh38)
Gene constraint: LOEUF 0.777 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.19 · 5 PDB

Full IL17RC gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

candidiasis, familial, 9 — 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

IL17RC c.105+146G>A Uncertain significance ★★ ⚠ same condition
IL17RC c.105+25G>A Uncertain significance ★★ ⚠ same condition
IL17RC c.105+33G>T Uncertain significance ★★ ⚠ same condition
IL17RC c.106-144G>A Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala166Val Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala30Ser Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala326Thr Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala480Val 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/il17rc-p-pro4 (accessed [today's date]).

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