chr10-94850018-A-C
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_000769.4(CYP2C19):āc.1251A>Cā(p.Gly417=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00406 in 1,613,662 control chromosomes in the GnomAD database, including 233 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. G417G) has been classified as Likely benign.
Frequency
Consequence
NM_000769.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP2C19 | NM_000769.4 | c.1251A>C | p.Gly417= | synonymous_variant | 8/9 | ENST00000371321.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2C19 | ENST00000371321.9 | c.1251A>C | p.Gly417= | synonymous_variant | 8/9 | 1 | NM_000769.4 | P1 | |
CYP2C19 | ENST00000645461.1 | n.2162A>C | non_coding_transcript_exon_variant | 6/7 |
Frequencies
GnomAD3 genomes AF: 0.00831 AC: 1264AN: 152118Hom.: 20 Cov.: 32
GnomAD3 exomes AF: 0.00680 AC: 1709AN: 251204Hom.: 42 AF XY: 0.00613 AC XY: 832AN XY: 135754
GnomAD4 exome AF: 0.00361 AC: 5276AN: 1461426Hom.: 211 Cov.: 32 AF XY: 0.00359 AC XY: 2607AN XY: 727000
GnomAD4 genome AF: 0.00836 AC: 1273AN: 152236Hom.: 22 Cov.: 32 AF XY: 0.00845 AC XY: 629AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 24, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at