Is CD36 p.Gln152= (c.456A>G) pathogenic?

CD36 p.Gln152= (c.456A>G) is classified Uncertain significance in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). Rare (popmax 0.103%, sas); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Gln152= (c.456A>G)?

CD36 p.Gln152= (c.456A>G) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Gln152= (c.456A>G) in the general population?

CD36 p.Gln152= (c.456A>G) is rare (popmax 0.103%, sas) (gnomAD).

CD36 p.Gln152=

c.456A>G · rs543785881 · VCV360759

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.103%, sas)

Conditions

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 0.003	GERP 0.3
Overall
CADD	1.974	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.103% South Asian · 94/91,058 alleles

Filtering AF 0.0863% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0801%

Overall 0.00676% 109/1,613,340 alleles · rare exomes 102/1,461,046 · genomes 7/152,294 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.103%	969
Remaining individualsnot grpmax-eligible	0.016%	6,245
African / African-American	0.00133%	75,014
European (non-Finnish)	0.000339%	294,878

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.Gln152=
Coding: c.456A>G
MANE Select: NM_001001548
dbSNP: rs543785881
Type: single nucleotide variant
Location: chr7:80663016 (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 152: an α-helix

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

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-p-gln152 (accessed [today's date]).

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