Is CD36 p.Ile317fs (c.949dup) pathogenic?

CD36 p.Ile317fs (c.949dup) is classified Likely pathogenic in CD36 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2020-03-26). Rare (popmax 0.518%, eas); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Ile317fs (c.949dup)?

CD36 p.Ile317fs (c.949dup) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Ile317fs (c.949dup) in the general population?

CD36 p.Ile317fs (c.949dup) is rare (popmax 0.518%, eas) (gnomAD).

CD36 p.Ile317fs

c.949dup · rs70961716 · VCV13539

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.518%, eas)

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 10 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP 2, phastCons 1
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 0.518% East Asian · 232/44,776 alleles

Filtering AF 0.463% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.442%

Overall 0.0198% 320/1,613,352 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.518%	193
Middle Eastern	0.0661%	1,513
Remaining individualsnot grpmax-eligible	0.0128%	7,809
South Asian	0.0121%	8,279
European (non-Finnish)	0.00509%	19,660
African / African-American	0.004%	24,994
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,590
Admixed American	0.00167%	59,986

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.Ile317fs
Coding: c.949dup
MANE Select: NM_001001548
dbSNP: rs70961716
Type: Duplication
Location: chr7:80671101 (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 317: 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.Gln262fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Val411fs Likely pathogenic ★★ same condition
CD36 p.Ala225fs Pathogenic ★ same condition
CD36 p.Glu445fs Pathogenic ★ same condition
CD36 p.Leu440fs Likely pathogenic ★ same condition
CD36 p.Val128fs Likely pathogenic ★ same condition
CD36 c.1226_1254+4dup Uncertain significance ★ same condition
CD36 p.Asn151fs Conflicting classifications of pathogenicity ★ 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-ile317fs (accessed [today's date]).

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