rs17263407

Variant names:

• chr7-80630592-G-C
• rs17263407
• ENST00000309881.11:c.-183-15496G>C

Your query was ambiguous. Multiple possible variants found:

• chr7-80630592-G-C
• chr7-80630592-G-T

Variant summary

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

The NM_001001547.3(CD36):​c.-183-15496G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.318 in 151,802 control chromosomes in the GnomAD database, including 8,086 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 0.32 (8086 hom., cov: 31)
• Consequence: CD36 NM_001001547.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.475
• Publications: 2 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: Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.426 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001001547.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CD36	NM_001001547.3		c.-183-15496G>C		intron	N/A	NP_001001547.1	P16671-1
	CD36	NM_001371074.1		c.-179-15500G>C		intron	N/A	NP_001358003.1	P16671-1
	CD36	NM_001371075.1		c.-183-15496G>C		intron	N/A	NP_001358004.1	P16671-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CD36	ENST00000309881.11	TSL:1	c.-183-15496G>C		intron	N/A	ENSP00000308165.7	P16671-1
	CD36	ENST00000435819.5	TSL:2	c.-183-15496G>C		intron	N/A	ENSP00000399421.1	P16671-1
	CD36	ENST00000855923.1		c.-183-15496G>C		intron	N/A	ENSP00000525982.1

Frequencies

GnomAD3 genomes AF: 0.318 AC: 48233 AN: 151684 Hom.: 8090 Cov.: 31

Gnomad AFR AF: 0.223

Gnomad AMI AF: 0.467

Gnomad AMR AF: 0.300

Gnomad ASJ AF: 0.345

Gnomad EAS AF: 0.240

Gnomad SAS AF: 0.443

Gnomad FIN AF: 0.384

Gnomad MID AF: 0.407

Gnomad NFE AF: 0.363

Gnomad OTH AF: 0.320

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

GnomAD4 genome AF: 0.318 AC: 48238 AN: 151802 Hom.: 8086 Cov.: 31 AF XY: 0.320 AC XY: 23734 AN XY: 74182

African (AFR) AF: 0.223 AC: 9223 AN: 41434

American (AMR) AF: 0.299 AC: 4552 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.345 AC: 1195 AN: 3462

East Asian (EAS) AF: 0.240 AC: 1232 AN: 5138

South Asian (SAS) AF: 0.441 AC: 2126 AN: 4816

European-Finnish (FIN) AF: 0.384 AC: 4041 AN: 10528

Middle Eastern (MID) AF: 0.397 AC: 115 AN: 290

European-Non Finnish (NFE) AF: 0.363 AC: 24645 AN: 67924

Other (OTH) AF: 0.326 AC: 684 AN: 2100

Alfa AF: 0.182 Hom.: 351

Bravo AF: 0.303

Asia WGS AF: 0.341 AC: 1186 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.6
DANN	Benign	0.45
PhyloP100		0.47
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: rs17263407; hg19: chr7-80259908;