rs2281891
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000772.3(CYP2C18):c.1154C>T(p.Thr385Met) variant causes a missense change. The variant allele was found at a frequency of 0.163 in 1,610,372 control chromosomes in the GnomAD database, including 23,809 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000772.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2C18 | NM_000772.3 | c.1154C>T | p.Thr385Met | missense_variant | 8/9 | ENST00000285979.11 | NP_000763.1 | |
CYP2C18 | NM_001128925.2 | c.977C>T | p.Thr326Met | missense_variant | 7/8 | NP_001122397.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2C18 | ENST00000285979.11 | c.1154C>T | p.Thr385Met | missense_variant | 8/9 | 1 | NM_000772.3 | ENSP00000285979.6 | ||
CYP2C18 | ENST00000339022.6 | c.977C>T | p.Thr326Met | missense_variant | 7/8 | 1 | ENSP00000341293.5 | |||
ENSG00000276490 | ENST00000464755.1 | n.794C>T | non_coding_transcript_exon_variant | 6/14 | 2 | ENSP00000483243.1 |
Frequencies
GnomAD3 genomes AF: 0.167 AC: 25299AN: 151886Hom.: 2312 Cov.: 32
GnomAD3 exomes AF: 0.178 AC: 44490AN: 249382Hom.: 4694 AF XY: 0.186 AC XY: 24994AN XY: 134710
GnomAD4 exome AF: 0.163 AC: 237444AN: 1458368Hom.: 21493 Cov.: 32 AF XY: 0.167 AC XY: 121487AN XY: 725478
GnomAD4 genome AF: 0.167 AC: 25316AN: 152004Hom.: 2316 Cov.: 32 AF XY: 0.170 AC XY: 12660AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at