Is IL17RC p.Ser321= (c.963G>T) pathogenic?

IL17RC p.Ser321= (c.963G>T) is classified Likely benign in IL17RC (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-10). Very rare (popmax 0.00221%, sas); Associated with candidiasis, familial, 9.

What condition is associated with IL17RC p.Ser321= (c.963G>T)?

IL17RC p.Ser321= (c.963G>T) is associated with candidiasis, familial, 9 (ClinVar).

How common is IL17RC p.Ser321= (c.963G>T) in the general population?

IL17RC p.Ser321= (c.963G>T) is very rare (popmax 0.00221%, sas) (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.Ser321=

c.963G>T · rs1001054288 · VCV1082101

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00221%, sas)

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 -8.8	GERP -3.1
Overall
CADD	0.017	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00221% South Asian · 2/90,672 alleles

Filtering AF 0.000366% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000137%

Overall 0.000499% 8/1,604,224 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00221%	45,336
Finnishnot grpmax-eligible	0.00164%	61,056
European (non-Finnish)	0.000425%	235,159

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.Ser321=
Coding: c.963G>T
MANE Select: NM_153460
dbSNP: rs1001054288
Type: single nucleotide variant
Location: chr3:9928390 (GRCh38)
Gene constraint: LOEUF 0.777 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.19 · 5 PDB
Residue 321: 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.Ser321Leu Uncertain significance ★ ⚠ same residue
IL17RC p.Ser321Trp 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-ser321 (accessed [today's date]).

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