Is CD36 p.Lys36fs (c.107del) pathogenic?

CD36 p.Lys36fs (c.107del) is classified Likely pathogenic in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-04). Very rare (popmax 0.0017%, nfe); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Lys36fs (c.107del)?

CD36 p.Lys36fs (c.107del) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Lys36fs (c.107del) in the general population?

CD36 p.Lys36fs (c.107del) is very rare (popmax 0.0017%, nfe) (gnomAD).

CD36 p.Lys36fs

c.107del · rs754478799 · VCV3068127

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.0017%, nfe)

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 3 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.9	GERP 1.1, phastCons 1
Overall
CADD	32.0	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 0.0017% European (non-Finnish) · 20/1,179,884 alleles

Filtering AF 0.00111% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0009%

Overall 0.00155% 25/1,613,808 alleles · very rare

Ancestry group	Frequency	1 in
Remaining individualsnot grpmax-eligible	0.0064%	15,617
European (non-Finnish)grpmax	0.0017%	58,994
Admixed American	0.00167%	59,982

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.Lys36fs
Coding: c.107del
MANE Select: NM_001001548
dbSNP: rs754478799
Type: Deletion
Location: chr7:80646846 (GRCh38)
Gene constraint: LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 94.14 · 1 PDB

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.Ile399fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Ile410_Ile413del Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Lys213fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Lys223fs Pathogenic/Likely pathogenic ★★ same condition
CD36 c.818+1_818+9del Likely pathogenic ★ same condition
CD36 c.(?_-183 Pathogenic ★ same condition
CD36 p.Gln171fs Likely pathogenic ★ same condition
CD36 p.Thr197fs Likely pathogenic ★ 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-lys36fs (accessed [today's date]).

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