7-80646754-G-C

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001001548.3(CD36):​c.14G>C​(p.Arg5Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)

Consequence

CD36
NM_001001548.3 missense

Scores

1
8
10

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.99
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]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
CD36NM_001001548.3 linkc.14G>C p.Arg5Pro missense_variant Exon 3 of 15 ENST00000447544.7 NP_001001548.1 P16671-1A4D1B1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
CD36ENST00000447544.7 linkc.14G>C p.Arg5Pro missense_variant Exon 3 of 15 5 NM_001001548.3 ENSP00000415743.2 P16671-1

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
30
GnomAD4 genome
Cov.:
32
Bravo
AF:
0.00000756

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
0.40
BayesDel_addAF
Pathogenic
0.17
D
BayesDel_noAF
Uncertain
0.010
CADD
Benign
23
DANN
Uncertain
0.99
DEOGEN2
Benign
0.15
T;T;T;T;T;.;.;.;T;T;T;.;T;T;T
Eigen
Benign
0.12
Eigen_PC
Benign
0.0091
FATHMM_MKL
Benign
0.28
N
LIST_S2
Uncertain
0.93
.;.;D;.;D;D;D;D;D;.;.;D;D;D;D
M_CAP
Benign
0.039
D
MetaRNN
Uncertain
0.72
D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM
Benign
-0.50
T
MutationAssessor
Uncertain
2.3
M;M;.;.;.;M;M;M;.;M;M;.;M;.;.
PrimateAI
Uncertain
0.52
T
PROVEAN
Benign
-2.2
N;N;N;N;N;N;N;N;D;N;N;N;N;N;N
REVEL
Uncertain
0.37
Sift
Benign
0.14
T;T;T;T;T;D;T;T;T;T;T;T;T;T;D
Sift4G
Benign
0.14
T;T;T;D;D;T;T;T;D;T;T;T;T;T;T
Polyphen
0.97
D;D;.;.;.;.;.;.;.;D;D;.;D;.;.
Vest4
0.72
MutPred
0.77
Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);Loss of helix (P = 0.0626);
MVP
0.24
MPC
0.00036
ClinPred
0.92
D
GERP RS
5.5
Varity_R
0.54
gMVP
0.83

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: rs13306227; hg19: chr7-80276070; API