TTN p.Phe33655fs
c.100964del · VCV4957928
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TTN-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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 358 of 363 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.3 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TTN
- Protein
- p.Phe33655fs
- Coding
- c.100964del
- MANE Select
- NM_001267550
- Type
- Deletion
- Location
- chr2:178535651 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Residue 33655
- the ig-like 148 domain
Disease context
TTN-related disorder
Similar variants
- TTN p.Ala27689fs Pathogenic/Likely pathogenic ★★ same condition
- TTN p.Ala29853fs Likely pathogenic ★★ same condition
- TTN p.Arg15218_Val15219insTer Likely pathogenic ★★ same condition
- TTN p.Arg30664fs Likely pathogenic ★★ same condition
- TTN p.Asn15764fs Likely pathogenic ★★ same condition
- TTN p.Glu21366fs Likely pathogenic ★★ same condition
- TTN p.Glu27315fs Pathogenic/Likely pathogenic ★★ same condition
- TTN p.Gly27513fs 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-phe33655fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown