Is IL17RC p.Pro246= (c.738A>G) pathogenic?

IL17RC p.Pro246= (c.738A>G) is classified Likely benign in IL17RC (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-17). Absent from gnomAD v4.1; Associated with candidiasis, familial, 9.

What condition is associated with IL17RC p.Pro246= (c.738A>G)?

IL17RC p.Pro246= (c.738A>G) is associated with candidiasis, familial, 9 (ClinVar).

How common is IL17RC p.Pro246= (c.738A>G) in the general population?

IL17RC p.Pro246= (c.738A>G) is absent from gnomAD v4.1 (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.Pro246=

c.738A>G · rs1258328885 · VCV2737782

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -0.65	GERP -3.4
Overall
CADD	5.236	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: IL17RC
Protein: p.Pro246=
Coding: c.738A>G
MANE Select: NM_153460
dbSNP: rs1258328885
Type: single nucleotide variant
Location: chr3:9923996 (GRCh38)
Gene constraint: LOEUF 0.777 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.19 · 5 PDB
Residue 246: a β-strand

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.Pro246Gln Uncertain significance ★★ ⚠ same residue
IL17RC p.Pro246Arg Uncertain significance ★ ⚠ same residue
IL17RC p.Pro246Leu Uncertain significance ★ ⚠ same residue
IL17RC p.Pro246fs 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

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-pro246 (accessed [today's date]).

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