Is CD36 p.Gln262fs (c.784dup) pathogenic?

CD36 p.Gln262fs (c.784dup) is classified Pathogenic/Likely pathogenic in CD36 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-09-10). Ultra-rare (popmax 0.0165%, mid); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Gln262fs (c.784dup)?

CD36 p.Gln262fs (c.784dup) is associated with platelet-type bleeding disorder 10, malaria, susceptibility to (ClinVar).

How common is CD36 p.Gln262fs (c.784dup) in the general population?

CD36 p.Gln262fs (c.784dup) is ultra-rare (popmax 0.0165%, mid) (gnomAD).

CD36 p.Gln262fs

c.784dup · rs766920034 · VCV587500

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

ultra-rare (popmax 0.0165%, mid)

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.63	GERP -0.73, phastCons 0.005

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0165% Middle Eastern · 1/6,062 alleles

Filtering AF 0.000365% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000137%

Overall 0.00103% 15/1,460,310 alleles · ultra-rare

Ancestry group	Frequency	1 in
Remaining individualsnot grpmax-eligible	0.0192%	5,205
Middle Easterngrpmax	0.0165%	6,062
South Asian	0.0022%	45,534

Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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.Gln262fs
Coding: c.784dup
MANE Select: NM_001001548
dbSNP: rs766920034
Type: Duplication
Location: chr7:80669986 (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 262: a disulfide bond

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

platelet-type bleeding disorder 10 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: malaria, susceptibility to

Similar variants

CD36 p.Ile317fs Likely pathogenic ★★ same condition
CD36 p.Val411fs Likely pathogenic ★★ same condition
CD36 p.Ala225fs Pathogenic ★ same condition
CD36 p.Glu445fs Pathogenic ★ same condition
CD36 p.Leu440fs Likely pathogenic ★ same condition
CD36 p.Val128fs Likely pathogenic ★ same condition
CD36 c.1226_1254+4dup Uncertain significance ★ same condition
CD36 p.Asn151fs Conflicting classifications of pathogenicity ★ 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-p-gln262fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown