Is CD36 p.Lys385fs (c.1155del) pathogenic?

CD36 p.Lys385fs (c.1155del) is classified Pathogenic in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2015-12-10). Absent from gnomAD.

How common is CD36 p.Lys385fs (c.1155del) in the general population?

CD36 p.Lys385fs (c.1155del) is absent from gnomAD (gnomAD).

CD36 p.Lys385fs

c.1155del · rs765809606 · VCV285207

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 12 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.2	GERP 1.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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.Lys385fs
Coding: c.1155del
MANE Select: NM_001001548
dbSNP: rs765809606
Type: Deletion
Location: chr7:80672796 (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 385: a β-strand

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CD36 p.Ile399fs Pathogenic/Likely pathogenic ★★ same type
CD36 p.Ile410_Ile413del Pathogenic/Likely pathogenic ★★ same type
CD36 p.Lys213fs Pathogenic/Likely pathogenic ★★ same type
CD36 p.Lys223fs Pathogenic/Likely pathogenic ★★ same type
CD36 c.1200-7_1208del Likely pathogenic ★ same type
CD36 c.818+1_818+9del Likely pathogenic ★ same type
CD36 c.(?_-183 Pathogenic ★ same type
CD36 p.Asn6fs Pathogenic ★ same type

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-lys385fs (accessed [today's date]).

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