7-80661068-G-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP3BP4_Strong
The NM_001001548.3(CD36):c.287G>C(p.Arg96Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,612,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001548.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 250854Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135540
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1460738Hom.: 0 Cov.: 32 AF XY: 0.0000344 AC XY: 25AN XY: 726798
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant summary: CD36 c.287G>C (p.Arg96Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 250854 control chromosomes (gnomAD). To our knowledge, no occurrence of c.287G>C in individuals affected with CD36-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at