PDE8B p.Ser261=
c.783C>T · rs771818778 · VCV2419232
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0101%, amr)
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 0.13 | GERP -5.6, phastCons 0.12 |
| Overall | ||
| CADD | 3.089 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0101%
Admixed American · 6/59,402 alleles
Filtering AF
0.00432%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00298%
Overall
0.000383%
6/1,568,496 alleles · ultra-rare
exomes 5/1,416,360 · genomes 1/152,136 · 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.Ser261=
- Coding
- c.783C>T
- MANE Select
- NM_003719
- dbSNP
- rs771818778
- Type
- single nucleotide variant
- Location
- chr5:77337301 (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-ser261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown