rs72559710
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BP4
The NM_000773.4(CYP2E1):c.227G>A(p.Arg76His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000104 in 1,613,468 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000773.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP2E1 | NM_000773.4 | c.227G>A | p.Arg76His | missense_variant | 2/9 | ENST00000252945.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2E1 | ENST00000252945.8 | c.227G>A | p.Arg76His | missense_variant | 2/9 | 1 | NM_000773.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152154Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000331 AC: 83AN: 250672Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135824
GnomAD4 exome AF: 0.000103 AC: 151AN: 1461196Hom.: 1 Cov.: 31 AF XY: 0.000100 AC XY: 73AN XY: 726924
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152272Hom.: 0 Cov.: 34 AF XY: 0.0000806 AC XY: 6AN XY: 74442
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at