Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000754(COMT):c.*522G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.56 in 151920 control chromosomes in the gnomAD Genomes database, including 25878 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.560AC: 85081AN: 151920Hom.: 25878Cov.: 33 GnomAD4 exome AF: 0.589AC: 1456AN: 2474Hom.: 446 AF XY: 0.576AC XY: 794AN XY: 1378
Submissions by phenotype
|drug response, no assertion criteria provided||research||Bruce Budowle Laboratory, University of North Texas Health Science Center||Apr 28, 2018||- T:M1 = postmortem ratio or tramadol to O-desmethyltramadol; t-MP = model-based clustered metabolizer phenotype inferred from T:M1|
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