chr7-80637420-T-C

Variant names:

• chr7-80637420-T-C
• rs9918586
• ENST00000309881.11:c.-183-8668T>C

Variant summary

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

The ENST00000309881.11(CD36):​c.-183-8668T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.161 in 151,934 control chromosomes in the GnomAD database, including 3,040 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 0.16 (3040 hom., cov: 32)
• Consequence: CD36 ENST00000309881.11 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.889
• 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

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.429 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.-183-8668T>C		intron	N/A	NP_001001547.1
	CD36	NM_001371074.1		c.-179-8672T>C		intron	N/A	NP_001358003.1
	CD36	NM_001371075.1		c.-183-8668T>C		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.-183-8668T>C		intron	N/A	ENSP00000308165.7
	CD36	ENST00000435819.5	TSL:2	c.-183-8668T>C		intron	N/A	ENSP00000399421.1
	CD36	ENST00000534394.5	TSL:2	c.-108-19120T>C		intron	N/A	ENSP00000431296.1

Frequencies

GnomAD3 genomes AF: 0.161 AC: 24435 AN: 151816 Hom.: 3032 Cov.: 32

Gnomad AFR AF: 0.300

Gnomad AMI AF: 0.0219

Gnomad AMR AF: 0.153

Gnomad ASJ AF: 0.0756

Gnomad EAS AF: 0.445

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.0670

Gnomad MID AF: 0.0573

Gnomad NFE AF: 0.0714

Gnomad OTH AF: 0.144

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

GnomAD4 genome AF: 0.161 AC: 24482 AN: 151934 Hom.: 3040 Cov.: 32 AF XY: 0.163 AC XY: 12133 AN XY: 74258

African (AFR) AF: 0.300 AC: 12444 AN: 41426

American (AMR) AF: 0.153 AC: 2326 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.0756 AC: 262 AN: 3464

East Asian (EAS) AF: 0.444 AC: 2280 AN: 5134

South Asian (SAS) AF: 0.263 AC: 1263 AN: 4810

European-Finnish (FIN) AF: 0.0670 AC: 710 AN: 10604

Middle Eastern (MID) AF: 0.0616 AC: 18 AN: 292

European-Non Finnish (NFE) AF: 0.0715 AC: 4855 AN: 67940

Other (OTH) AF: 0.144 AC: 304 AN: 2116

Alfa AF: 0.141 Hom.: 498

Bravo AF: 0.170

Asia WGS AF: 0.354 AC: 1221 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.47
DANN	Benign	0.51
PhyloP100		-0.89
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: rs9918586; hg19: chr7-80266736;