chr7-80620806-A-T

Variant names:

• chr7-80620806-A-T
• rs10480808
• ENST00000309881.11:c.-184+18427A>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000309881.11(CD36):​c.-184+18427A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.466 in 152,062 control chromosomes in the GnomAD database, including 16,883 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 0.47 (16883 hom., cov: 33)
• Consequence: CD36 ENST00000309881.11 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.94
• Publications: 3 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

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.08).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.687 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000309881.11. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CD36	NM_001001547.3		c.-184+18427A>T		intron	N/A	NP_001001547.1
	CD36	NM_001371074.1		c.-180+18427A>T		intron	N/A	NP_001358003.1
	CD36	NM_001371075.1		c.-184+18427A>T		intron	N/A	NP_001358004.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CD36	ENST00000309881.11	TSL:1	c.-184+18427A>T		intron	N/A	ENSP00000308165.7
	CD36	ENST00000435819.5	TSL:2	c.-183-25282A>T		intron	N/A	ENSP00000399421.1
	CD36	ENST00000534394.5	TSL:2	c.-109+18427A>T		intron	N/A	ENSP00000431296.1

Frequencies

GnomAD3 genomes AF: 0.466 AC: 70812 AN: 151944 Hom.: 16868 Cov.: 33

Gnomad AFR AF: 0.473

Gnomad AMI AF: 0.491

Gnomad AMR AF: 0.450

Gnomad ASJ AF: 0.419

Gnomad EAS AF: 0.683

Gnomad SAS AF: 0.708

Gnomad FIN AF: 0.454

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.436

Gnomad OTH AF: 0.458

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.466 AC: 70861 AN: 152062 Hom.: 16883 Cov.: 33 AF XY: 0.471 AC XY: 34984 AN XY: 74316

African (AFR) AF: 0.473 AC: 19619 AN: 41486

American (AMR) AF: 0.450 AC: 6874 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.419 AC: 1452 AN: 3468

East Asian (EAS) AF: 0.682 AC: 3516 AN: 5154

South Asian (SAS) AF: 0.707 AC: 3408 AN: 4820

European-Finnish (FIN) AF: 0.454 AC: 4803 AN: 10568

Middle Eastern (MID) AF: 0.463 AC: 136 AN: 294

European-Non Finnish (NFE) AF: 0.436 AC: 29626 AN: 67968

Other (OTH) AF: 0.464 AC: 980 AN: 2114

Alfa AF: 0.443 Hom.: 1861

Bravo AF: 0.459

Asia WGS AF: 0.690 AC: 2396 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.028
DANN	Benign	0.14
PhyloP100		-1.9
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs10480808; hg19: chr7-80250122;