CD36 c.281+924C>A
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 31.7%, eas) — too common for a highly-penetrant pathogenic allele
Conditions
1
type 2 diabetes mellitus
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +924 | deep intronic (+924 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.63 | GERP -1.8 |
| Non-coding constraint | Z -1.86 | 1 kb window · o/e 1.16 · regional · uncalibrated |
| Overall | ||
| CADD | 0.254 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
31.7%
East Asian · 1,625/5,132 alleles
Filtering AF
30.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 29.9%
Overall
14.5%
22,098/151,946 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 31.7% | 3 |
| African / African-American | 27.7% | 4 |
| South Asian | 24% | 4 |
| Remaining individualsnot grpmax-eligible | 12.7% | 8 |
| Admixed American | 11.7% | 9 |
| European (non-Finnish) | 7.11% | 14 |
| Ashkenazi Jewishnot grpmax-eligible | 7.01% | 14 |
| Finnishnot grpmax-eligible | 6.72% | 15 |
| Middle Eastern | 5.1% | 20 |
| Amishnot grpmax-eligible | 2.19% | 46 |
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.281+924C>A
- MANE Select
- NM_001001548
- dbSNP
- rs3211867
- Type
- single nucleotide variant
- Location
- chr7:80657624 (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.-184+13244G>A Benign ★ same condition
- CD36 c.1254+1G>A Likely pathogenic ★★ same type
- CD36 c.430-2A>G Likely pathogenic ★★ same type
- CD36 p.Cys243Ter Pathogenic ★★ same type
- CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same type
- CD36 p.Tyr62Ter Likely pathogenic ★★ same type
- CD36 c.-27C>T Uncertain significance ★★ same type
- CD36 p.Ala427Ser 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/cd36-c-281-plus-924c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown