CD36 p.Ser269del
c.802TCT[1] · VCV4687814
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00051%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 20.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00051%
European (non-Finnish) · 6/1,175,476 alleles
Filtering AF
0.000184%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000121%
Overall
0.000373%
6/1,608,618 alleles · very rare
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
- CD36
- Protein
- p.Ser269del
- Coding
- c.802TCT[1]
- MANE Select
- NM_001001548
- Type
- Microsatellite
- Location
- chr7:80670005 (GRCh38)
- Gene constraint
- LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.14 · 1 PDB
- Residue 269
- a disulfide bond; a turn
Similar variants
- CD36 p.Ser269Phe Uncertain significance ★ ⚠ same residue
- CD36 p.Ser269Tyr Uncertain significance ★ same residue
- CD36 p.Thr111fs Pathogenic/Likely pathogenic ★★ same type
- CD36 p.Ser113fs Uncertain significance ★★ same type
- CD36 p.Lys472fs Conflicting classifications of pathogenicity ★ same type
- CD36 c.120+399TG[8] Likely benign ★ 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/cd36-p-ser269del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown