Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2_SupportingPM5BP4_Moderate
The NM_000104.4(CYP1B1):c.142C>T(p.Arg48Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152100 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R48G) has been classified as Likely benign.
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomes AF: 0.00000657AC: 1AN: 152100Hom.: 0Cov.: 34 GnomAD4 exome AF: 6.94e-7AC: 1AN: 1441286Hom.: 0 AF XY: 0.00000140AC XY: 1AN XY: 715982
ClinVarNot reported in
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