rs894763906
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001386879.1(SLCO1A2):c.1162G>T(p.Ala388Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,456,392 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A388T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001386879.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLCO1A2 | NM_001386879.1 | c.1162G>T | p.Ala388Ser | missense_variant | Exon 10 of 15 | ENST00000683939.1 | NP_001373808.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1456392Hom.: 0 Cov.: 28 AF XY: 0.00000828 AC XY: 6AN XY: 725006
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.