Is TRAF3IP2 p.Pro373= (c.1119G>A) pathogenic?

TRAF3IP2 p.Pro373= (c.1119G>A) is classified Likely benign in TRAF3IP2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-22). Ultra-rare (popmax 0.0776%, afr); Associated with candidiasis, familial, 8.

What condition is associated with TRAF3IP2 p.Pro373= (c.1119G>A)?

TRAF3IP2 p.Pro373= (c.1119G>A) is associated with candidiasis, familial, 8 (ClinVar).

How common is TRAF3IP2 p.Pro373= (c.1119G>A) in the general population?

TRAF3IP2 p.Pro373= (c.1119G>A) is ultra-rare (popmax 0.0776%, 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.Pro373=

c.1119G>A · rs370011231 · VCV720224

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0776%, afr)

Conditions

candidiasis, familial, 8

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 -11	GERP -3.8
Overall
CADD	0.166	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0776% African / African-American · 58/74,752 alleles

Filtering AF 0.0615% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0558%

Overall 0.00664% 107/1,612,430 alleles · ultra-rare exomes 71/1,460,350 · genomes 36/152,080 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0776%	1,289
Admixed American	0.0185%	5,418
Middle Eastern	0.0172%	5,812
Remaining individualsnot grpmax-eligible	0.0128%	7,803
East Asian	0.00446%	22,432
European (non-Finnish)	0.0022%	45,368
Finnishnot grpmax-eligible	0.00156%	63,972

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.Pro373=
Coding: c.1119G>A
MANE Select: NM_147686
dbSNP: rs370011231
Type: single nucleotide variant
Location: chr6:111575725 (GRCh38)
Gene constraint: LOEUF 0.771 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 53.91 · 1 PDB
Residue 373: the 'disordered' region

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

Similar variants

TRAF3IP2 c.1201+1G>C Likely pathogenic ★★ same condition
TRAF3IP2 p.Ala328Thr Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Ala36Val Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Ala473Thr Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Asn45Lys Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Gln18His Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Glu479Lys Uncertain significance ★★ ⚠ same condition
TRAF3IP2 p.Gly353Asp 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/traf3ip2-p-pro373 (accessed [today's date]).

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