chr10-94762856-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000769.4(CYP2C19):c.151A>G(p.Ser51Gly) 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. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000769.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2C19 | NM_000769.4 | c.151A>G | p.Ser51Gly | missense_variant | 1/9 | ENST00000371321.9 | NP_000760.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2C19 | ENST00000371321.9 | c.151A>G | p.Ser51Gly | missense_variant | 1/9 | 1 | NM_000769.4 | ENSP00000360372 | P1 | |
CYP2C19 | ENST00000480405.2 | c.151A>G | p.Ser51Gly | missense_variant | 1/3 | 1 | ENSP00000483847 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
CYP2C19: decreased function Other:1
drug response, practice guideline | curation | Clinical Pharmacogenetics Implementation Consortium | - | - Allele function |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at