PDE8B p.Asp511=
c.1533C>T · rs148282450 · VCV708098
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0683%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.68 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.055 | GERP -2.2, phastCons 0.97 |
| Overall | ||
| CADD | 9.797 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0683%
Admixed American · 41/59,996 alleles
Filtering AF
0.0517%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0459%
Overall
0.0344%
553/1,609,446 alleles · ultra-rare
exomes 510/1,457,432 · genomes 43/152,014 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0683% | 1,463 |
| European (non-Finnish) | 0.0411% | 2,435 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,159 |
| East Asian | 0.0112% | 8,968 |
| African / African-American | 0.00668% | 14,980 |
| South Asian | 0.0044% | 22,747 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- PDE8B
- Protein
- p.Asp511=
- Coding
- c.1533C>T
- MANE Select
- NM_003719
- dbSNP
- rs148282450
- Type
- single nucleotide variant
- Location
- chr5:77411678 (GRCh38)
- Gene constraint
- LOEUF 0.351 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.88
Similar variants
- PDE8B c.*498C>A Uncertain significance ★★ same type
- PDE8B p.Ala232Ser Uncertain significance ★★ ⚠ same type
- PDE8B p.Ala4Val Uncertain significance ★★ ⚠ same type
- PDE8B p.Ala65Pro Uncertain significance ★★ ⚠ same type
- PDE8B p.Ala70Ser Uncertain significance ★★ ⚠ same type
- PDE8B p.Ala86Thr Uncertain significance ★★ ⚠ same type
- PDE8B p.Arg237Lys Uncertain significance ★★ ⚠ same type
- PDE8B p.Arg483Trp Uncertain significance ★★ ⚠ same type
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/pde8b-p-asp511 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown