Is TRAF3IP2 p.Ser57= (c.171C>T) pathogenic?

TRAF3IP2 p.Ser57= (c.171C>T) is classified Likely benign in TRAF3IP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-09). Very rare (popmax 0.00833%, amr); Associated with candidiasis, familial, 8.

What condition is associated with TRAF3IP2 p.Ser57= (c.171C>T)?

TRAF3IP2 p.Ser57= (c.171C>T) is associated with candidiasis, familial, 8 (ClinVar).

How common is TRAF3IP2 p.Ser57= (c.171C>T) in the general population?

TRAF3IP2 p.Ser57= (c.171C>T) is very rare (popmax 0.00833%, amr) (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.Ser57=

c.171C>T · rs144366791 · VCV1115136

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00833%, amr)

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 -6.8	GERP -4
Overall
CADD	0.308	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00833% Admixed American · 5/60,010 alleles

Filtering AF 0.00347% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00228%

Overall 0.00341% 55/1,614,116 alleles · very rare exomes 47/1,461,894 · genomes 8/152,222 · joint denominator

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	0.0172%	5,821
Remaining individualsnot grpmax-eligible	0.0144%	6,943
Admixed Americangrpmax	0.00833%	12,002
African / African-American	0.00801%	12,490
East Asian	0.00223%	44,896
European (non-Finnish)	0.00186%	53,639
South Asian	0.0011%	91,094

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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.Ser57=
Coding: c.171C>T
MANE Select: NM_147686
dbSNP: rs144366791
Type: single nucleotide variant
Location: chr6:111591916 (GRCh38)
Gene constraint: LOEUF 0.771 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 53.91 · 1 PDB
Residue 57: the 'mediates interaction with traf6' region; 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 p.Ser57Pro Uncertain significance ★ ⚠ same residue
TRAF3IP2 p.Ser57Phe Uncertain significance ★ ⚠ same residue
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

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-ser57 (accessed [today's date]).

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