rs3211938
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Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 8P and 9B. PVS1BP6BA1
The NM_001001548.3(CD36):āc.975T>Gā(p.Tyr325Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00458 in 1,612,872 control chromosomes in the GnomAD database, including 414 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: š 0.025 ( 194 hom., cov: 33)
Exomes š: 0.0025 ( 220 hom. )
Consequence
CD36
NM_001001548.3 stop_gained
NM_001001548.3 stop_gained
Scores
1
5
1
Clinical Significance
Conservation
PhyloP100: 0.457
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 Likely_benign. Variant got -1 ACMG points.
PVS1
Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
BP6
Variant 7-80671133-T-G is Benign according to our data. Variant chr7-80671133-T-G is described in ClinVar as [Conflicting_classifications_of_pathogenicity]. Clinvar id is 13536.We mark this variant Likely_benign, oryginal submissions are: {Benign=1, Uncertain_significance=1}.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0848 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD36 | NM_001001548.3 | c.975T>G | p.Tyr325Ter | stop_gained | 10/15 | ENST00000447544.7 | NP_001001548.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD36 | ENST00000447544.7 | c.975T>G | p.Tyr325Ter | stop_gained | 10/15 | 5 | NM_001001548.3 | ENSP00000415743 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0246 AC: 3739AN: 152178Hom.: 194 Cov.: 33
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GnomAD3 exomes AF: 0.00617 AC: 1545AN: 250362Hom.: 78 AF XY: 0.00437 AC XY: 592AN XY: 135332
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GnomAD4 exome AF: 0.00249 AC: 3639AN: 1460576Hom.: 220 Cov.: 29 AF XY: 0.00218 AC XY: 1585AN XY: 726654
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GnomAD4 genome AF: 0.0246 AC: 3740AN: 152296Hom.: 194 Cov.: 33 AF XY: 0.0233 AC XY: 1734AN XY: 74470
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ClinVar
Significance: Conflicting classifications of pathogenicity
Submissions summary: Pathogenic:1Uncertain:1Benign:1Other:1
Revision: criteria provided, conflicting classifications
LINK: link
Submissions by phenotype
Platelet-type bleeding disorder 10 Pathogenic:1Uncertain:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 01, 2008 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | May 09, 2017 | - - |
Malaria, cerebral, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jun 01, 2008 | - - |
Computational scores
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Name
Calibrated prediction
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BayesDel_addAF
Uncertain
D
BayesDel_noAF
Pathogenic
CADD
Pathogenic
DANN
Uncertain
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Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
MutationTaster
Benign
P;P;P;P;P;P;P;P;P
Vest4
GERP RS
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