rs12531609
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000309881.11(CD36):c.-184+9884A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0085 in 152,342 control chromosomes in the GnomAD database, including 59 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0085 ( 59 hom., cov: 33)
Consequence
CD36
ENST00000309881.11 intron
ENST00000309881.11 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.585
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0987 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD36 | NM_001001547.3 | c.-184+9884A>T | intron_variant | NP_001001547.1 | ||||
CD36 | NM_001289911.2 | c.-109+9884A>T | intron_variant | NP_001276840.1 | ||||
CD36 | NM_001371074.1 | c.-180+9884A>T | intron_variant | NP_001358003.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD36 | ENST00000309881.11 | c.-184+9884A>T | intron_variant | 1 | ENSP00000308165 | P1 | ||||
CD36 | ENST00000435819.5 | c.-183-33825A>T | intron_variant | 2 | ENSP00000399421 | P1 | ||||
CD36 | ENST00000534394.5 | c.-109+9884A>T | intron_variant | 2 | ENSP00000431296 |
Frequencies
GnomAD3 genomes AF: 0.00847 AC: 1289AN: 152224Hom.: 59 Cov.: 33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.00850 AC: 1295AN: 152342Hom.: 59 Cov.: 33 AF XY: 0.00953 AC XY: 710AN XY: 74492
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197
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3478
ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at