TTN p.Asp24350=
c.73050T>C · VCV4824740
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
1
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 1.1 | GERP -3.1, phastCons 0.99 |
| Overall | ||
| CADD | 0.419 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,978 alleles
Overall
0.000124%
2/1,613,290 alleles · very rare
exomes 2/1,461,086 · genomes 0/152,204 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,978 |
| European (non-Finnish) | 8.48e-05% | 1,179,540 |
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
- TTN
- Protein
- p.Asp24350=
- Coding
- c.73050T>C
- MANE Select
- NM_001267550
- Type
- single nucleotide variant
- Location
- chr2:178573082 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
Similar variants
- TTN c.107377+1G>C Pathogenic/Likely pathogenic ★★ same condition
- TTN c.54190+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TTN c.54811+1G>A Likely pathogenic ★★ same condition
- TTN c.57112-1G>A Likely pathogenic ★★ same condition
- TTN c.58732+2T>C Likely pathogenic ★★ same condition
- TTN c.95723-2A>C Likely pathogenic ★★ same condition
- TTN p.Arg1012Ter Pathogenic/Likely pathogenic ★★ same condition
- TTN p.Arg14069Ter Pathogenic/Likely pathogenic ★★ 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/ttn-p-asp24350 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown