chr7-80590626-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000435819.5(CD36):​c.-184+44359A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 151,824 control chromosomes in the GnomAD database, including 8,516 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 0.33 ( 8516 hom., cov: 32)

Consequence

CD36
ENST00000435819.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.104
Variant links:
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=-0.88).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.432 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
CD36ENST00000435819.5 linkc.-184+44359A>G intron_variant 2 ENSP00000399421.1 P16671-1

Frequencies

GnomAD3 genomes
AF:
0.332
AC:
50372
AN:
151706
Hom.:
8508
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.313
Gnomad AMI
AF:
0.464
Gnomad AMR
AF:
0.267
Gnomad ASJ
AF:
0.336
Gnomad EAS
AF:
0.242
Gnomad SAS
AF:
0.448
Gnomad FIN
AF:
0.353
Gnomad MID
AF:
0.407
Gnomad NFE
AF:
0.352
Gnomad OTH
AF:
0.326
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.332
AC:
50404
AN:
151824
Hom.:
8516
Cov.:
32
AF XY:
0.333
AC XY:
24680
AN XY:
74196
show subpopulations
Gnomad4 AFR
AF:
0.313
Gnomad4 AMR
AF:
0.267
Gnomad4 ASJ
AF:
0.336
Gnomad4 EAS
AF:
0.241
Gnomad4 SAS
AF:
0.447
Gnomad4 FIN
AF:
0.353
Gnomad4 NFE
AF:
0.352
Gnomad4 OTH
AF:
0.331
Alfa
AF:
0.323
Hom.:
1338
Bravo
AF:
0.321
Asia WGS
AF:
0.345
AC:
1199
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
2.6
DANN
Benign
0.65

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2030711; hg19: chr7-80219942; API