TSC2 p.Lys930Asp
c.2788_2790delinsGAC · rs1060500935 · VCV406012
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 4 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 37 kb · p 0.88 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TSC2
- Protein
- p.Lys930Asp
- Coding
- c.2788_2790delinsGAC
- MANE Select
- NM_000548
- dbSNP
- rs1060500935
- Type
- Indel
- Location
- chr16:2076536 (GRCh38)
- Gene constraint
- LOEUF 0.203 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 68.81 · 2 PDB
- Residue 930
- the 'disordered' region
Similar variants
- TSC2 p.Lys930= Likely benign ★★ same residue
- TSC2 p.Lys930Glu Conflicting classifications of pathogenicity ★ ⚠ same residue
- TSC2 p.Phe453Ter Pathogenic ★★ same condition
- TSC2 p.Val827fs Pathogenic ★★ same condition
- TSC2 p.Ala675Leu Uncertain significance ★★ same condition
- TSC2 p.Glu1107Met Uncertain significance ★★ same condition
- TSC2 p.Glu1351Leu Uncertain significance ★★ same condition
- TSC2 p.Glu393Leu 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/tsc2-p-lys930asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown