Is IL17RC p.Pro204= (c.612G>A) pathogenic?

IL17RC p.Pro204= (c.612G>A) is classified Likely benign in IL17RC (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-25). Ultra-rare (popmax 0.0202%, eas); Associated with candidiasis, familial, 9.

What condition is associated with IL17RC p.Pro204= (c.612G>A)?

IL17RC p.Pro204= (c.612G>A) is associated with candidiasis, familial, 9 (ClinVar).

How common is IL17RC p.Pro204= (c.612G>A) in the general population?

IL17RC p.Pro204= (c.612G>A) is ultra-rare (popmax 0.0202%, 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.Pro204=

c.612G>A · VCV3626971

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0202%, eas)

Conditions

candidiasis, familial, 9

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>T here scores Δ0.24 · evaluated, not missing
Constraint at this position
Conservation	phyloP 8.5	GERP 0.64, phastCons 1
Overall
CADD	14.28	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0202% East Asian · 9/44,662 alleles

Filtering AF 0.0104% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00783%

Overall 0.00119% 19/1,595,680 alleles · ultra-rare exomes 16/1,443,376 · genomes 3/152,304 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0202%	4,962
South Asian	0.00456%	21,925
African / African-American	0.0027%	37,030
European (non-Finnish)	0.000341%	293,387

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.Pro204=
Coding: c.612G>A
MANE Select: NM_153460
Type: single nucleotide variant
Location: chr3:9920959 (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 p.Pro204Leu Uncertain significance ★ ⚠ same residue
IL17RC p.Pro204Ser Uncertain significance ★ ⚠ same residue
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

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-pro204 (accessed [today's date]).

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