chr10-94781859-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_000769.4(CYP2C19):c.681G>A(p.Pro227Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.16 in 1,464,646 control chromosomes in the GnomAD database, including 20,742 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign,other (★★).
Frequency
Consequence
NM_000769.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2C19 | ENST00000371321.9 | c.681G>A | p.Pro227Pro | synonymous_variant | Exon 5 of 9 | 1 | NM_000769.4 | ENSP00000360372.3 | ||
ENSG00000276490 | ENST00000464755.1 | n.*439G>A | non_coding_transcript_exon_variant | Exon 10 of 14 | 2 | ENSP00000483243.1 | ||||
ENSG00000276490 | ENST00000464755.1 | n.*439G>A | 3_prime_UTR_variant | Exon 10 of 14 | 2 | ENSP00000483243.1 | ||||
CYP2C19 | ENST00000645461.1 | n.1734G>A | non_coding_transcript_exon_variant | Exon 4 of 7 |
Frequencies
GnomAD3 genomes AF: 0.168 AC: 25424AN: 151376Hom.: 2358 Cov.: 32
GnomAD3 exomes AF: 0.176 AC: 28518AN: 161670Hom.: 2972 AF XY: 0.181 AC XY: 16382AN XY: 90276
GnomAD4 exome AF: 0.159 AC: 209244AN: 1313152Hom.: 18379 Cov.: 28 AF XY: 0.163 AC XY: 105482AN XY: 648108
GnomAD4 genome AF: 0.168 AC: 25442AN: 151494Hom.: 2363 Cov.: 32 AF XY: 0.172 AC XY: 12754AN XY: 73968
ClinVar
Submissions by phenotype
not provided Benign:1Other:1
- Variant classified as "other reportable" ??? variant is clinically benign (not associated with disease) but is reported when observed (e.g. pseudodeficiency alleles).
- -
Clopidogrel response Other:2
- -
rs4244285 is a SNP in the CYP2C19 gene and is linked to poor clopidogrel metabolic activation. rs4244285 is associated with reduced enzyme activity of CYP2C19 and lower concentration of clopidogrel active metabolite. likely responsive
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Proguanil, poor metabolism of Other:1
- -
Mephenytoin, poor metabolism of Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at