Is TRAF3IP2 p.Phe418= (c.1254C>T) pathogenic?

TRAF3IP2 p.Phe418= (c.1254C>T) is classified Likely benign in TRAF3IP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-07-02). Ultra-rare (popmax 0.0165%, mid); Associated with candidiasis, familial, 8.

What condition is associated with TRAF3IP2 p.Phe418= (c.1254C>T)?

TRAF3IP2 p.Phe418= (c.1254C>T) is associated with candidiasis, familial, 8 (ClinVar).

How common is TRAF3IP2 p.Phe418= (c.1254C>T) in the general population?

TRAF3IP2 p.Phe418= (c.1254C>T) is ultra-rare (popmax 0.0165%, mid) (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

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

TRAF3IP2 p.Phe418=

c.1254C>T · rs932934755 · VCV2180953

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0165%, mid)

Conditions

candidiasis, familial, 8

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -1.8	GERP -3.8
Overall
CADD	4.868	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0165% Middle Eastern · 1/6,062 alleles

Filtering AF 0.000875% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000443%

Overall 0.000496% 8/1,613,980 alleles · ultra-rare exomes 8/1,461,754 · genomes 0/152,226 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0165%	6,062
South Asian	0.00329%	30,358
European (non-Finnish)	0.000339%	294,994

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: TRAF3IP2
Protein: p.Phe418=
Coding: c.1254C>T
MANE Select: NM_147686
dbSNP: rs932934755
Type: single nucleotide variant
Location: chr6:111572931 (GRCh38)

Full TRAF3IP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

candidiasis, familial, 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Chronic mucocutaneous candidiasis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Childhood, Infancy

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/traf3ip2-p-phe418 (accessed [today's date]).

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