INVS p.Asp45fs
c.133_134del · VCV3382164
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
nephronophthisis 2
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 3 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- INVS
- Protein
- p.Asp45fs
- Coding
- c.133_134del
- MANE Select
- NM_014425
- Type
- Deletion
- Location
- chr9:100126408 (GRCh38)
- Gene constraint
- LOEUF 0.941 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.76
Disease context
nephronophthisis 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Nephronophthisis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Finland)
Similar variants
- INVS p.Asn278fs Pathogenic/Likely pathogenic ★★ same condition
- INVS p.Gln485fs Pathogenic ★★ same condition
- INVS p.Gln587fs Pathogenic ★★ same condition
- INVS p.Gln796fs Likely pathogenic ★★ same condition
- INVS p.Gly456fs Pathogenic/Likely pathogenic ★★ same condition
- INVS p.Lys834fs Pathogenic/Likely pathogenic ★★ same condition
- INVS p.Ser721fs Pathogenic/Likely pathogenic ★★ same condition
- INVS p.Ile348fs 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/invs-p-asp45fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown