rs34550074
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005630.3(SLCO2A1):c.1186G>C(p.Ala396Pro) 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. 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. A396T) has been classified as Likely benign.
Frequency
Consequence
NM_005630.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLCO2A1 | NM_005630.3 | c.1186G>C | p.Ala396Pro | missense_variant | 9/14 | ENST00000310926.11 | NP_005621.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLCO2A1 | ENST00000310926.11 | c.1186G>C | p.Ala396Pro | missense_variant | 9/14 | 1 | NM_005630.3 | ENSP00000311291.4 | ||
SLCO2A1 | ENST00000493729.5 | c.958G>C | p.Ala320Pro | missense_variant | 8/13 | 5 | ENSP00000418893.1 | |||
SLCO2A1 | ENST00000462770.5 | n.766G>C | non_coding_transcript_exon_variant | 5/7 | 2 | |||||
SLCO2A1 | ENST00000481359.3 | n.1105+1171G>C | intron_variant | 5 | ENSP00000420028.3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at