chr7-80661109-AAC-A

Variant names:

• chr7-80661109-AAC-A
• rs572295823
• NM_001001548.3:c.332_333delCA

Variant summary

Our verdict is Pathogenic. The variant received 15 ACMG points: 16P and 1B. PVS1 PP5_Very_Strong BS2_Supporting

The NM_001001548.3(CD36):​c.332_333delCA​(p.Thr111SerfsTer22) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000253 in 1,614,030 control chromosomes in the GnomAD database, including 3 homozygotes. Variant has been reported in ClinVar as Likely pathogenic (★★). Variant results in nonsense mediated mRNA decay.

• Frequency:
  • Genomes: 𝑓 0.00044 (0 hom., cov: 32)
  • Exomes 𝑓: 0.00023 (3 hom.)
• Consequence: CD36 NM_001001548.3 frameshift
• Clinical Significance: Pathogenic/Likely pathogenic criteria provided, multiple submitters, no conflicts P:7
• Conservation: PhyloP100: 0.883
• Publications: 6 publications found

Genes affected

CD36 (HGNC:1663): (CD36 molecule (CD36 blood group)) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]

CD36 Gene-Disease associations (from GenCC):

• platelet-type bleeding disorder 10

  Inheritance: AR Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), Laboratory for Molecular Medicine

ENSG00000298725 (HGNC:):

ACMG classification

Our verdict: Pathogenic. The variant received 15 ACMG points.

• PVS1: Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
• PP5: Variant 7-80661109-AAC-A is Pathogenic according to our data. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr7-80661109-AAC-A is described in CliVar as Pathogenic/Likely_pathogenic. Clinvar id is 225309.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BS2: High Homozygotes in GnomAdExome4 at 3 AR geneVariant has number of homozygotes lower than other variant known as pathogenic in the gene, so the strength is limited to Supporting.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CD36	NM_001001548.3	c.332_333delCA	p.Thr111SerfsTer22	frameshift_variant	Exon 5 of 15	ENST00000447544.7	NP_001001548.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CD36	ENST00000447544.7	c.332_333delCA	p.Thr111SerfsTer22	frameshift_variant	Exon 5 of 15	5	NM_001001548.3	ENSP00000415743.2

Frequencies

GnomAD3 genomes AF: 0.000447 AC: 68 AN: 152214 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.0131

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.00116 AC: 290 AN: 250890 AF XY: 0.00100

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.0000578

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.0155

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.00

Gnomad OTH exome AF: 0.000327

GnomAD4 exome AF: 0.000234 AC: 342 AN: 1461698 Hom.: 3 AF XY: 0.000213 AC XY: 155 AN XY: 727164

African (AFR) AF: 0.00 AC: 0 AN: 33480

American (AMR) AF: 0.0000224 AC: 1 AN: 44724

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26134

East Asian (EAS) AF: 0.00804 AC: 319 AN: 39676

South Asian (SAS) AF: 0.0000232 AC: 2 AN: 86254

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53420

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5764

European-Non Finnish (NFE) AF: 8.99e-7 AC: 1 AN: 1111858

Other (OTH) AF: 0.000315 AC: 19 AN: 60388

GnomAD4 genome AF: 0.000440 AC: 67 AN: 152332 Hom.: 0 Cov.: 32 AF XY: 0.000550 AC XY: 41 AN XY: 74488

African (AFR) AF: 0.00 AC: 0 AN: 41584

American (AMR) AF: 0.00 AC: 0 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3472

East Asian (EAS) AF: 0.0130 AC: 67 AN: 5166

South Asian (SAS) AF: 0.00 AC: 0 AN: 4830

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10628

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 294

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 68032

Other (OTH) AF: 0.00 AC: 0 AN: 2116

Alfa AF: 0.0000868 Hom.: 0

Bravo AF: 0.000461

Asia WGS AF: 0.00289 AC: 10 AN: 3476

ClinVar

Significance: Pathogenic/Likely pathogenic

Submissions summary: Pathogenic:7

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

Platelet-type bleeding disorder 10 Pathogenic:5

Oct 05, 2018

Illumina Laboratory Services, Illumina

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The CD36 c.332_333delCA (p.Thr111SerfsTer22) variant results in a frameshift and is predicted to result in premature termination of the protein. The p.Thr111SerfsTer22 variant has been reported in at least five studies in which it is found in at least twelve individuals with platelet glycoprotein IV deficiency, including in one in a homozygous state, in five in a compound heterozygous state, and in at least five in a heterozygous state, and in one additional individual with unknown zygosity (Kashiwagi et al. 1994; Yanai et al. 2000; Xu et al. 2013; Li et al. 2015; Masuda et al. 2015). In these studies, all the individuals are reported as generally healthy but failing to express CD36 on their platelets. The p.Thr111SerfsTer22 variant has been described as one of the most common variants associated with platelet glycoprotein IV deficiency in the Southern Chinese population (Xu et al. 2013). The variant was also found in a heterozygous state in three individuals with cerebral malaria (Omi et al. 2002). Control data are unavailable for this variant, which is reported at a frequency of 0.018849 in the East Asian population of the 1000 Genomes Project. Flow cytometry found four of the heterozygous patients were negative for CD36 expression and one heterozygote had a normal phenotype but had significantly reduced CD36 expression (Li et al. 2015; Masuda et al. 2015). Based on the collective evidence, the p.Thr111SerfsTer22 variant is classified as pathogenic for platelet glycoprotein IV deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. -

Mar 18, 2016

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: reference population

- -

May 23, 2023

Department of Pathology and Laboratory Medicine, Sinai Health System

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: research

- -

Apr 22, 2021

Genetics and Molecular Pathology, SA Pathology

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jan 06, 2020

Reproductive Health Research and Development, BGI Genomics

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: curation

NM_001001547.2:c.332_333delCA in the CD36 gene has an allele frequency of 0.016 in East Asian subpopulation in the gnomAD database. The CD36 c.332_333delCA (p.Thr111SerfsTer22) variant results in a frameshift and is predicted to result in premature termination of the protein. The p.Thr111SerfsTer22 variant has been reported in individuals with platelet glycoprotein IV deficiency, including in one in a homozygous state, in five in a compound heterozygous state with 1228_1239del, Arg386Trp, Gln74Term (PMID: 23966019; 25330908; 25798958). Taken together, we interprete this variant as Pathogenic/Likely pathogenic variant. ACMG/AMP Criteria applied: PVS1; PP4; PM3_Strong. -

Platelet-type bleeding disorder 10;C1970028:Malaria, susceptibility to;C1970441:Coronary heart disease, susceptibility to, 7 Pathogenic:2

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Juno Genomics, Hangzhou Juno Genomics, Inc

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

BS1+PVS1+PM3_VeryStrong+PP4 -

Oct 26, 2021

Fulgent Genetics, Fulgent Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.88
Mutation Taster		=21/179	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs572295823; hg19: chr7-80290425; COSMIC: COSV59214787; COSMIC: COSV59214787;