TAB2 p.Arg574Ter
c.1720C>T · VCV3357774
Likely pathogenic
Multiple submitters
Classification
Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
congenital heart defects, multiple types, 2
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 0.83, phastCons 1 |
| Overall | ||
| CADD | 39.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TAB2
- Protein
- p.Arg574Ter
- Coding
- c.1720C>T
- MANE Select
- NM_001292034
- Type
- single nucleotide variant
- Location
- chr6:149397720 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.24 · 6 PDB
Similar variants
- TAB2 p.Arg574Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- TAB2 c.1764+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TAB2 p.Arg96Lys Uncertain significance ★★ ⚠ same condition
- TAB2 p.His6Arg Uncertain significance ★★ ⚠ same condition
- TAB2 p.Ile68Thr Uncertain significance ★★ same condition
- TAB2 p.Ser50Asn Uncertain significance ★★ ⚠ same condition
- TAB2 p.Gln7= Benign/Likely benign ★★ same condition
- TAB2 p.Arg574fs Pathogenic ★ same residue
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-arg574ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown