Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PM2_SupportingBP4_StrongBP7
The NM_000104.4(CYP1B1):c.1294C>T(p.Leu432=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at