Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBS1BS2
The NM_015570(AUTS2):c.-981T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00372 in 152026 control chromosomes in the gnomAD Genomes database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.00372AC: 565AN: 152026Hom.: 3Cov.: 30 GnomAD4 exome AF: 0.000134AC: 1AN: 7450Hom.: 0 AF XY: 0.000187AC XY: 1AN XY: 5360
Submissions by phenotype
|Likely benign, criteria provided, single submitter||clinical testing||GeneDx||Jun 24, 2019||- -|
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