TNNT2 p.Arg151=
c.453G>C · rs786204406 · VCV1663639
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
4
Cardiovascular phenotype
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 -2.3 | GERP -4.2 |
| Overall | ||
| CADD | 4.596 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/60,024 alleles
Overall
6.2e-05%
1/1,613,380 alleles · very rare
exomes 1/1,461,020 · genomes 0/152,360 · joint denominator
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
- TNNT2
- Protein
- p.Arg151=
- Coding
- c.453G>C
- MANE Select
- NM_001276345
- dbSNP
- rs786204406
- Type
- single nucleotide variant
- Location
- chr1:201364334 (GRCh38)
- Gene constraint
- LOEUF 0.683 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.93 · 25 PDB
- Residue 151
- the 'disordered' region; a UniProt-annotated variant site (in cmd1d)
Similar variants
- TNNT2 p.Arg151Trp Pathogenic/Likely pathogenic ★★ same residue
- TNNT2 p.Arg151Gln Conflicting classifications of pathogenicity ★ same residue
- TNNT2 p.Arg151fs Uncertain significance ★★ same residue
- TNNT2 p.Arg151Leu Likely pathogenic ★ same residue
- TNNT2 c.851+1G>A Likely pathogenic ★★★ same condition
- TNNT2 p.Arg104His Likely pathogenic ★★★ same condition
- TNNT2 p.Trp297Ter Likely pathogenic ★★★ same condition
- TNNT2 p.Arg296Cys 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/tnnt2-p-arg151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown