TSC2 p.Val241fs
c.721del · VCV3347611
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TSC2-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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 42 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -3.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TSC2
- Protein
- p.Val241fs
- Coding
- c.721del
- MANE Select
- NM_000548
- Type
- Deletion
- Location
- chr16:2056716 (GRCh38)
- Gene constraint
- LOEUF 0.203 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 68.81 · 2 PDB
- Residue 241
- an α-helix; the 'required for interaction with tsc1' region
Disease context
TSC2-related disorder
Similar variants
- TSC2 p.Gly1472fs Pathogenic ★★ same condition
- TSC2 p.Met276fs Pathogenic ★★ same condition
- TSC2 p.Ser428del Pathogenic/Likely pathogenic ★★ same condition
- TSC2 p.Tyr1250fs Pathogenic/Likely pathogenic ★★ same condition
- TSC2 p.Val241Ala Uncertain significance ★★ ⚠ same residue
- TSC2 p.Val241Leu Uncertain significance ★★ ⚠ same residue
- TSC2 p.Val241Ile Benign/Likely benign ★★ same residue
- TSC2 c.5161-36_5215del 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/tsc2-p-val241fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown