10-95038960-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000770.3(CYP2C8):c.1228G>T(p.Gly410Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G410G) has been classified as Likely benign.
Frequency
Consequence
NM_000770.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2C8 | NM_000770.3 | c.1228G>T | p.Gly410Cys | missense_variant | Exon 8 of 9 | ENST00000371270.6 | NP_000761.3 | |
CYP2C8 | NM_001198853.1 | c.1018G>T | p.Gly340Cys | missense_variant | Exon 8 of 9 | NP_001185782.1 | ||
CYP2C8 | NM_001198855.1 | c.1018G>T | p.Gly340Cys | missense_variant | Exon 9 of 10 | NP_001185784.1 | ||
CYP2C8 | NM_001198854.1 | c.922G>T | p.Gly308Cys | missense_variant | Exon 7 of 8 | NP_001185783.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1228G>T (p.G410C) alteration is located in exon 8 (coding exon 8) of the CYP2C8 gene. This alteration results from a G to T substitution at nucleotide position 1228, causing the glycine (G) at amino acid position 410 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.