CD36 c.-286C>A
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00147%, nfe)
Conditions
1
platelet-type bleeding disorder 10
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 1.7 | GERP 1.6, phastCons 1 |
| Non-coding constraint | Z -2.24 | 1 kb window · o/e 1.17 · regional · uncalibrated |
| Overall | ||
| CADD | 13.14 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00147%
European (non-Finnish) · 1/68,014 alleles
Overall
0.000657%
1/152,104 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
- Coding
- c.-286C>A
- MANE Select
- NM_001001548 · reported on NM_001001547
- dbSNP
- rs886062450
- Type
- single nucleotide variant
- Location
- chr7:80602277 (GRCh38)
- Gene constraint
- LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.14 · 1 PDB
Similar variants
- CD36 c.1254+1G>A Likely pathogenic ★★ same condition
- CD36 c.430-2A>G Likely pathogenic ★★ same condition
- CD36 p.Cys243Ter Pathogenic ★★ same condition
- CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Tyr62Ter Likely pathogenic ★★ same condition
- CD36 c.-27C>T Uncertain significance ★★ same condition
- CD36 p.Ala427Ser Uncertain significance ★★ ⚠ same condition
- CD36 p.Arg292Ile Uncertain significance ★★ ⚠ 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/cd36-c-minus-286c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown