Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NM_175061(JAZF1):c.189-41528C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.292 in 152004 control chromosomes in the gnomAD Genomes database, including 7718 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.
Verdict is Benign. Variant got -10 ACMG points.
GnomAD3 genomes AF: 0.292AC: 44361AN: 152004Hom.: 7718Cov.: 33
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at