GRN p.Pro512fs
c.1535del · VCV3355919
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
GRN-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 12 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 1.5, phastCons 0.14 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GRN
- Protein
- p.Pro512fs
- Coding
- c.1535del
- MANE Select
- NM_002087
- Type
- Deletion
- Location
- chr17:44352460 (GRCh38)
- Gene constraint
- LOEUF 0.59 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 76.74 · 8 PDB
Disease context
GRN-related disorder
Similar variants
- GRN p.Gln130fs Pathogenic ★★ same condition
- GRN p.Gly35fs Pathogenic ★★ same condition
- GRN p.Ser82fs Pathogenic ★ same condition
- GRN p.Arg110Ter Pathogenic ★★ same condition
- GRN p.Arg493Ter Pathogenic ★★ same condition
- GRN p.Cys31fs Pathogenic ★★ same condition
- GRN p.Gln300Ter Pathogenic ★★ same condition
- GRN p.Lys259Ter 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/grn-p-pro512fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown