rs1126545
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000285979.11(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
ENST00000285979.11 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 | P1 | |
CYP2C18 | ENST00000339022.6 | c.977C>T | p.Thr326Met | missense_variant | 7/8 | 1 | ENSP00000341293 |
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