chr12-20901435-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_019844.4(SLCO1B3):c.1833G>T(p.Gly611=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G611G) has been classified as Benign.
Frequency
Consequence
NM_019844.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLCO1B3 | NM_019844.4 | c.1833G>T | p.Gly611= | synonymous_variant | 15/16 | ENST00000381545.8 | |
SLCO1B3-SLCO1B7 | NM_001371097.1 | c.1833G>T | p.Gly611= | synonymous_variant | 13/16 | ||
LOC124902894 | XM_047429949.1 | c.-90G>T | 5_prime_UTR_variant | 1/10 | |||
SLCO1B3 | NM_001349920.2 | c.1749G>T | p.Gly583= | synonymous_variant | 13/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLCO1B3 | ENST00000381545.8 | c.1833G>T | p.Gly611= | synonymous_variant | 15/16 | 2 | NM_019844.4 | P1 | |
SLCO1B3 | ENST00000261196.6 | c.1833G>T | p.Gly611= | synonymous_variant | 13/14 | 1 | P1 | ||
SLCO1B3 | ENST00000544370.1 | c.1305G>T | p.Gly435= | synonymous_variant | 9/10 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at