Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_194250.2(ZNF804A):c.256-19902A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.304 in 151914 control chromosomes in the gnomAD Genomes database, including 8547 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.
Genome browser will be placed here
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.304AC: 46211AN: 151914Hom.: 8547Cov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at