10-95043003-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 4 ACMG points: 4P and 0B. PP3_Strong
The NM_000770.3(CYP2C8):c.1036C>T(p.Pro346Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,842 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000770.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2C8 | NM_000770.3 | c.1036C>T | p.Pro346Ser | missense_variant | Exon 7 of 9 | ENST00000371270.6 | NP_000761.3 | |
CYP2C8 | NM_001198853.1 | c.826C>T | p.Pro276Ser | missense_variant | Exon 7 of 9 | NP_001185782.1 | ||
CYP2C8 | NM_001198855.1 | c.826C>T | p.Pro276Ser | missense_variant | Exon 8 of 10 | NP_001185784.1 | ||
CYP2C8 | NM_001198854.1 | c.730C>T | p.Pro244Ser | missense_variant | Exon 6 of 8 | NP_001185783.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251462 AF XY: 0.00000736 show subpopulations
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461842Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727232 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1036C>T (p.P346S) alteration is located in exon 7 (coding exon 7) of the CYP2C8 gene. This alteration results from a C to T substitution at nucleotide position 1036, causing the proline (P) at amino acid position 346 to be replaced by a serine (S). 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