Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000393330.6(TSPAN8):c.-110+8029G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.75 in 151804 control chromosomes in the gnomAD Genomes database, including 42921 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.
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Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.750AC: 113857AN: 151804Hom.: 42921Cov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at