Is CD36 p.Cys243Ter (c.729C>A) pathogenic?

CD36 p.Cys243Ter (c.729C>A) is classified Pathogenic in CD36 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-12-18). Ultra-rare (popmax 0.0561%, sas); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Cys243Ter (c.729C>A)?

CD36 p.Cys243Ter (c.729C>A) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Cys243Ter (c.729C>A) in the general population?

CD36 p.Cys243Ter (c.729C>A) is ultra-rare (popmax 0.0561%, sas) (gnomAD).

CD36 p.Cys243Ter

c.729C>A · rs149985988 · VCV1322043

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

ultra-rare (popmax 0.0561%, sas)

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 8 of 15
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.1	GERP -3.5, phastCons 0.003
Overall
CADD	34.0	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 0.0561% South Asian · 51/90,918 alleles

Filtering AF 0.0437% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0394%

Overall 0.00442% 71/1,607,554 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0561%	1,783
Middle Eastern	0.0497%	2,013
Remaining individualsnot grpmax-eligible	0.00482%	20,763
European (non-Finnish)	0.00119%	83,900

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.Cys243Ter
Coding: c.729C>A
MANE Select: NM_001001548
dbSNP: rs149985988
Type: single nucleotide variant
Location: chr7:80666470 (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 243: a disulfide bond; 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 p.Cys243Tyr Uncertain significance ★ ⚠ same residue
CD36 c.1254+1G>A Likely pathogenic ★★ same condition
CD36 c.430-2A>G Likely 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-cys243ter (accessed [today's date]).

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