rs9784998
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001001547.3(CD36):c.-183-12403C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 151,768 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
NM_001001547.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD36 | XM_047421048.1 | c.-1576C>A | 5_prime_UTR_variant | Exon 1 of 16 | XP_047277004.1 | |||
CD36 | NM_001001547.3 | c.-183-12403C>A | intron_variant | Intron 1 of 13 | NP_001001547.1 | |||
CD36 | NM_001371074.1 | c.-179-12407C>A | intron_variant | Intron 1 of 13 | NP_001358003.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD36 | ENST00000309881.11 | c.-183-12403C>A | intron_variant | Intron 1 of 13 | 1 | ENSP00000308165.7 | ||||
CD36 | ENST00000435819.5 | c.-183-12403C>A | intron_variant | Intron 4 of 16 | 2 | ENSP00000399421.1 | ||||
CD36 | ENST00000534394.5 | c.-108-22855C>A | intron_variant | Intron 1 of 11 | 2 | ENSP00000431296.1 |
Frequencies
GnomAD3 genomes AF: 0.0000527 AC: 8AN: 151768Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.0000527 AC: 8AN: 151768Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74088 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at