12-20815818-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_019844.4(SLCO1B3):āc.80T>Gā(p.Phe27Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000161 in 1,579,904 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 (ā ).
Frequency
Consequence
NM_019844.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLCO1B3 | ENST00000381545.8 | c.80T>G | p.Phe27Cys | missense_variant | Exon 3 of 16 | 2 | NM_019844.4 | ENSP00000370956.4 | ||
SLCO1B3-SLCO1B7 | ENST00000540229.1 | c.80T>G | p.Phe27Cys | missense_variant | Exon 1 of 16 | 2 | ENSP00000441269.1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000640 AC: 15AN: 234248Hom.: 0 AF XY: 0.0000551 AC XY: 7AN XY: 126984
GnomAD4 exome AF: 0.000169 AC: 242AN: 1427742Hom.: 0 Cov.: 27 AF XY: 0.000173 AC XY: 123AN XY: 710118
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80T>G (p.F27C) alteration is located in exon 2 (coding exon 1) of the SLCO1B3 gene. This alteration results from a T to G substitution at nucleotide position 80, causing the phenylalanine (F) at amino acid position 27 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at