PDE6B p.Asp433fs
c.1296_1297insTACC · VCV3767367
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
retinitis pigmentosa 40
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 10 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.11 | GERP -2.5, phastCons 0.076 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PDE6B
- Protein
- p.Asp433fs
- Coding
- c.1296_1297insTACC
- MANE Select
- NM_000283
- Type
- Insertion
- Location
- chr4:657386 (GRCh38)
- Gene constraint
- LOEUF 1.238 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.72
Disease context
retinitis pigmentosa 40 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Retinitis pigmentosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- PDE6B p.Asp433Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
- PDE6B c.1059+2T>G Likely pathogenic ★★ same condition
- PDE6B c.1060-1G>T Pathogenic/Likely pathogenic ★★ same condition
- PDE6B c.1107+1G>T Likely pathogenic ★★ same condition
- PDE6B c.1107+3A>G Pathogenic/Likely pathogenic ★★ same condition
- PDE6B c.1832+1G>T Pathogenic ★★ same condition
- PDE6B c.2193+1G>A Pathogenic ★★ same condition
- PDE6B c.621+1G>A 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/pde6b-p-asp433fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown