Is CD36 c.-375G>C pathogenic?

CD36 c.-375G>C is classified Benign in CD36 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-01-13). Common (popmax 71.1%, sas) — too common for a highly-penetrant pathogenic allele; Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 c.-375G>C?

CD36 c.-375G>C is associated with platelet-type bleeding disorder 10 (ClinVar).

CD36 c.-375G>C

Q: How common is CD36 c.-375G>C in the general population?

CD36 c.-375G>C is common (popmax 71.1%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

rs1194182 · VCV360740

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Common

common (popmax 71.1%, sas) — too common for a highly-penetrant pathogenic allele

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.076	GERP -2.6
Non-coding constraint	Z -2.24	1 kb window · o/e 1.17 · regional · uncalibrated
Overall
CADD	4.062	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 71.1% South Asian · 3,425/4,820 alleles

Filtering AF 69.1% ClinGen BA1/BS1 input FAF95, joint · FAF99 68.3%

Overall 52.8% 80,212/151,940 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	71.1%	1
East Asian	68.1%	1
African / African-American	68%	1
Remaining individualsnot grpmax-eligible	50%	2
Middle Eastern	49.7%	2
Amishnot grpmax-eligible	49.3%	2
Finnishnot grpmax-eligible	46.3%	2
Ashkenazi Jewishnot grpmax-eligible	44.9%	2
European (non-Finnish)	44.6%	2
Admixed American	43.8%	2

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
Coding: c.-375G>C
MANE Select: NM_001001548 · reported on NM_001001547
dbSNP: rs1194182
Type: single nucleotide variant
Location: chr7:80602188 (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 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
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-c-minus-375g-c (accessed [today's date]).

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