Is TAB2 p.Val27fs (c.80_84delinsAGG) pathogenic?

TAB2 p.Val27fs (c.8084delinsAGG) is classified Likely pathogenic in TAB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-02). No gnomAD frequency available for this variant; Associated with TAB2-related disorder.

What condition is associated with TAB2 p.Val27fs (c.80_84delinsAGG)?

TAB2 p.Val27fs (c.80_84delinsAGG) is associated with TAB2-related disorder (ClinVar).

How common is TAB2 p.Val27fs (c.80_84delinsAGG) in the general population?

TAB2 p.Val27fs (c.80_84delinsAGG) is no gnomAD frequency available for this variant (gnomAD).

TAB2 p.Val27fs

c.80_84delinsAGG · rs2483348418 · VCV2631202

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

TAB2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 2 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.8, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: TAB2
Protein: p.Val27fs
Coding: c.80_84delinsAGG
MANE Select: NM_001292034
dbSNP: rs2483348418
Type: Indel
Location: chr6:149370077 (GRCh38)
Gene constraint: LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 53.24 · 6 PDB
Residue 27: the cue domain; an α-helix

Full TAB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

TAB2-related disorder

Similar variants

TAB2 p.Arg546Ter Pathogenic/Likely pathogenic ★★ same condition
TAB2 p.Gln170Lys Uncertain significance ★★ ⚠ same condition
TAB2 p.Gln111Ter Likely pathogenic ★ same condition
TAB2 p.His89fs Likely pathogenic ★ same condition
TAB2 c.102+1G>A Uncertain significance ★ same condition
TAB2 p.Cys684Ser Uncertain significance ★ ⚠ same condition
TAB2 p.Gly210Glu Uncertain significance ⚠ same condition
TAB2 c.1764+8_1764+9insAT Likely benign 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/tab2-p-val27fs (accessed [today's date]).

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