Is IL17F p.Ser18= (c.54G>A) pathogenic?

IL17F p.Ser18= (c.54G>A) is classified Likely benign in IL17F (ClinVar, Single submitter, 1 submitter; last evaluated 2026-02-01). Ultra-rare (popmax 0.0108%, nfe); Associated with candidiasis, familial, 6.

What condition is associated with IL17F p.Ser18= (c.54G>A)?

IL17F p.Ser18= (c.54G>A) is associated with candidiasis, familial, 6 (ClinVar).

How common is IL17F p.Ser18= (c.54G>A) in the general population?

IL17F p.Ser18= (c.54G>A) is ultra-rare (popmax 0.0108%, nfe) (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

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

IL17F p.Ser18=

c.54G>A · rs772321235 · VCV740268

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0108%, nfe)

Conditions

candidiasis, familial, 6

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 0.76	GERP -0.97, phastCons 0.016
Overall
CADD	7.838	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0108% European (non-Finnish) · 127/1,179,876 alleles

Filtering AF 0.00919% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00863%

Overall 0.00837% 135/1,613,244 alleles · ultra-rare exomes 133/1,461,086 · genomes 2/152,158 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0108%	9,290
Admixed American	0.00333%	29,997
South Asian	0.0033%	30,345
African / African-American	0.00267%	37,441
Remaining individualsnot grpmax-eligible	0.0016%	62,414

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: IL17F
Protein: p.Ser18=
Coding: c.54G>A
MANE Select: NM_052872
dbSNP: rs772321235
Type: single nucleotide variant
Location: chr6:52238930 (GRCh38)
Gene constraint: LOEUF 1.11 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.75 · 9 PDB

Full IL17F gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

candidiasis, familial, 6 — 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

IL17F p.Ser18Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
IL17F p.Ser18Ter Uncertain significance ★ same residue
IL17F p.Ala23Pro Uncertain significance ★★ ⚠ same condition
IL17F p.Arg131Gln Uncertain significance ★★ ⚠ same condition
IL17F p.Arg67His Uncertain significance ★★ ⚠ same condition
IL17F p.Arg72Cys Uncertain significance ★★ ⚠ same condition
IL17F p.Arg92Gln Uncertain significance ★★ same condition
IL17F p.Asn63Ser 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/il17f-p-ser18 (accessed [today's date]).

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