Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000395324.6(VDR):c.-83-25988G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.378 in 151972 control chromosomes in the gnomAD Genomes database, including 16322 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 -12 ACMG points.
GnomAD3 genomes AF: 0.378AC: 57431AN: 151972Hom.: 16322Cov.: 31
ClinVarNot reported in
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