Is CD36 p.Cys272Ter (c.816C>A) pathogenic?

CD36 p.Cys272Ter (c.816C>A) is classified Likely pathogenic in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-06). Absent from gnomAD v4.1; Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Cys272Ter (c.816C>A)?

CD36 p.Cys272Ter (c.816C>A) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Cys272Ter (c.816C>A) in the general population?

CD36 p.Cys272Ter (c.816C>A) is absent from gnomAD v4.1 (gnomAD).

CD36 p.Cys272Ter

c.816C>A · VCV3779490

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,589,858)

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 9 of 15
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>T here scores Δ0.41 · evaluated, not missing
Constraint at this position
Conservation	phyloP 3.3	GERP 0.29, phastCons 1
Overall
CADD	37.0	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

No allele count reported in gnomAD v4.1 (AN 1,589,858). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CD36
Protein: p.Cys272Ter
Coding: c.816C>A
MANE Select: NM_001001548
Type: single nucleotide variant
Location: chr7:80670020 (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 272: a disulfide bond; a turn

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.Cys272Trp Uncertain significance ★ ⚠ same residue
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

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-cys272ter (accessed [today's date]).

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