PDE8B p.Asp142=
c.426T>C · VCV4970818
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000424%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.4 | GERP -4.8 |
| Overall | ||
| CADD | 4.346 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000424%
European (non-Finnish) · 5/1,179,978 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.00031%
5/1,614,138 alleles · very rare
exomes 5/1,461,836 · genomes 0/152,302 · joint denominator
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.Asp142=
- Coding
- c.426T>C
- MANE Select
- NM_003719
- Type
- single nucleotide variant
- Location
- chr5:77325565 (GRCh38)
- Gene constraint
- LOEUF 0.351 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.88
Similar variants
- PDE8B p.Asp142Gly Uncertain significance ★ ⚠ same residue
- 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
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-asp142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown