rs57585902
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019844.4(SLCO1B3):āc.439A>Cā(p.Thr147Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,450,358 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T147A) has been classified as Likely benign.
Frequency
Consequence
NM_019844.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLCO1B3 | NM_019844.4 | c.439A>C | p.Thr147Pro | missense_variant | 6/16 | ENST00000381545.8 | |
SLCO1B3-SLCO1B7 | NM_001371097.1 | c.439A>C | p.Thr147Pro | missense_variant | 4/16 | ||
SLCO1B3 | NM_001349920.2 | c.355A>C | p.Thr119Pro | missense_variant | 4/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLCO1B3 | ENST00000381545.8 | c.439A>C | p.Thr147Pro | missense_variant | 6/16 | 2 | NM_019844.4 | P1 | |
SLCO1B3 | ENST00000261196.6 | c.439A>C | p.Thr147Pro | missense_variant | 4/14 | 1 | P1 | ||
SLCO1B3 | ENST00000540853.5 | c.439A>C | p.Thr147Pro | missense_variant | 5/8 | 1 | |||
SLCO1B3 | ENST00000545880.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 242006Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130854
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450358Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 721508
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at