Is CD36 p.Tyr325Ter (c.975T>G) pathogenic?

CD36 p.Tyr325Ter (c.975T>G) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 4 submitters; last evaluated 2023-09-11). Common (popmax 9.05%, afr) — too common for a highly-penetrant pathogenic allele; Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Tyr325Ter (c.975T>G)?

CD36 p.Tyr325Ter (c.975T>G) is associated with platelet-type bleeding disorder 10 (ClinVar).

CD36 p.Tyr325Ter

Q: How common is CD36 p.Tyr325Ter (c.975T>G) in the general population?

CD36 p.Tyr325Ter (c.975T>G) is common (popmax 9.05%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.975T>G · rs3211938 · VCV13536

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 4 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Common

common (popmax 9.05%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 10 of 15
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.44	GERP -4.1
Overall
CADD	36.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.05% African / African-American · 6,785/74,968 alleles

Filtering AF 8.87% ClinGen BA1/BS1 input FAF95, joint · FAF99 8.8%

Overall 0.458% 7,379/1,612,872 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	9.05%	11
Remaining individualsnot grpmax-eligible	0.487%	205
Admixed American	0.367%	273
Middle Eastern	0.116%	865
South Asian	0.0296%	3,373
European (non-Finnish)	0.00305%	32,761

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.Tyr325Ter
Coding: c.975T>G
MANE Select: NM_001001548
dbSNP: rs3211938
Type: single nucleotide variant
Location: chr7:80671133 (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 325: 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

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-tyr325ter (accessed [today's date]).

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