rs148348784
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_000770.3(CYP2C8):āc.1276A>Gā(p.Met426Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,613,850 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000770.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2C8 | NM_000770.3 | c.1276A>G | p.Met426Val | missense_variant | 8/9 | ENST00000371270.6 | NP_000761.3 | |
CYP2C8 | NM_001198853.1 | c.1066A>G | p.Met356Val | missense_variant | 8/9 | NP_001185782.1 | ||
CYP2C8 | NM_001198855.1 | c.1066A>G | p.Met356Val | missense_variant | 9/10 | NP_001185784.1 | ||
CYP2C8 | NM_001198854.1 | c.970A>G | p.Met324Val | missense_variant | 7/8 | NP_001185783.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2C8 | ENST00000371270.6 | c.1276A>G | p.Met426Val | missense_variant | 8/9 | 1 | NM_000770.3 | ENSP00000360317.3 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251404Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135878
GnomAD4 exome AF: 0.000146 AC: 213AN: 1461628Hom.: 0 Cov.: 30 AF XY: 0.000151 AC XY: 110AN XY: 727126
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at