CD36 c.701+103C>T
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 17.3%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +103 | deep intronic (+103 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -4 |
| Non-coding constraint | Z -4.40 | 1 kb window · o/e 1.34 · regional · uncalibrated |
| Overall | ||
| CADD | 0.537 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
17.3%
East Asian · 6,861/39,756 alleles
Filtering AF
16.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 16.8%
Overall
6.32%
47,979/759,756 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 17.3% | 6 |
| South Asian | 8.95% | 11 |
| Admixed American | 8.31% | 12 |
| Remaining individualsnot grpmax-eligible | 6.3% | 16 |
| Ashkenazi Jewishnot grpmax-eligible | 6.25% | 16 |
| Finnishnot grpmax-eligible | 5.94% | 17 |
| European (non-Finnish) | 5.18% | 19 |
| African / African-American | 2.51% | 40 |
| Middle Eastern | 2.11% | 47 |
| Amishnot grpmax-eligible | 0.219% | 456 |
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.701+103C>T
- MANE Select
- NM_001001548
- dbSNP
- rs3211908
- Type
- single nucleotide variant
- Location
- chr7:80664600 (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 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
- CD36 p.Arg292Ile 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-701-plus-103c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown