Is TRAF2 p.Arg308= (c.924G>T) pathogenic?

TRAF2 p.Arg308= (c.924G>T) is classified Benign in TRAF2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-08-16). Low-frequency (popmax 2.3%, afr).

How common is TRAF2 p.Arg308= (c.924G>T) in the general population?

TRAF2 p.Arg308= (c.924G>T) is low-frequency (popmax 2.3%, afr) (gnomAD).

TRAF2 p.Arg308=

c.924G>T · rs17244166 · VCV781190

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.3%, afr)

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 -0.14	GERP -2.4, phastCons 0.073
Overall
CADD	6.792	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.3% African / African-American · 1,725/75,030 alleles

Filtering AF 2.21% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.17%

Overall 0.123% 1,981/1,613,354 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.3%	43
Middle Eastern	0.198%	505
Remaining individualsnot grpmax-eligible	0.165%	606
Admixed American	0.143%	697
European (non-Finnish)	0.00424%	23,596
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,592
South Asian	0.0033%	30,347
Finnishnot grpmax-eligible	0.00157%	63,612

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: TRAF2
Protein: p.Arg308=
Coding: c.924G>T
MANE Select: NM_021138
dbSNP: rs17244166
Type: single nucleotide variant
Location: chr9:136920479 (GRCh38)
Structure: AlphaFold pLDDT 60.31 · 3 PDB

Full TRAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TRAF2 p.Arg308Gln Uncertain significance ★ ⚠ same residue
TANK p.Gln113Glu Benign ★★ same type
TRAF2 p.Gly81= Benign ★★ same type
TRAF2 p.Phe361= Benign ★★ same type
TANK p.Arg40Ser Uncertain significance ★ ⚠ same type
TANK p.Arg42Cys Uncertain significance ★ ⚠ same type
TANK p.Asn87Ser Uncertain significance ★ ⚠ same type
TANK p.Asn88Ile Uncertain significance ★ ⚠ same type

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/traf2-p-arg308 (accessed [today's date]).

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