12-20855073-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019844.4(SLCO1B3):c.130G>T(p.Gly44Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLCO1B3 | NM_019844.4 | c.130G>T | p.Gly44Cys | missense_variant | Exon 4 of 16 | ENST00000381545.8 | NP_062818.1 | |
SLCO1B3-SLCO1B7 | NM_001371097.1 | c.130G>T | p.Gly44Cys | missense_variant | Exon 2 of 16 | NP_001358026.1 | ||
SLCO1B3 | NM_001349920.2 | c.46G>T | p.Gly16Cys | missense_variant | Exon 2 of 14 | NP_001336849.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLCO1B3 | ENST00000381545.8 | c.130G>T | p.Gly44Cys | missense_variant | Exon 4 of 16 | 2 | NM_019844.4 | ENSP00000370956.4 | ||
SLCO1B3-SLCO1B7 | ENST00000540229.1 | c.130G>T | p.Gly44Cys | missense_variant | Exon 2 of 16 | 2 | ENSP00000441269.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250994Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135682
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1459806Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726280
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at