Is TRAF3IP2 p.Pro224= (c.672C>G) pathogenic?

TRAF3IP2 p.Pro224= (c.672C>G) is classified Likely benign in TRAF3IP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-04). Very rare (popmax 0.00136%, afr); Associated with candidiasis, familial, 8.

What condition is associated with TRAF3IP2 p.Pro224= (c.672C>G)?

TRAF3IP2 p.Pro224= (c.672C>G) is associated with candidiasis, familial, 8 (ClinVar).

How common is TRAF3IP2 p.Pro224= (c.672C>G) in the general population?

TRAF3IP2 p.Pro224= (c.672C>G) is very rare (popmax 0.00136%, afr) (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.Pro224=

c.672C>G · rs2128382110 · VCV1578843

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00136%, afr)

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 0.056	GERP -3, phastCons 0.5
Overall
CADD	0.521	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00136% African / African-American · 1/73,440 alleles

Overall 6.39e-05% 1/1,563,794 alleles · very rare exomes 1/1,411,486 · genomes 0/152,308 · joint denominator

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.Pro224=
Coding: c.672C>G
MANE Select: NM_147686
dbSNP: rs2128382110
Type: single nucleotide variant
Location: chr6:111591415 (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-pro224 (accessed [today's date]).

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