Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_015570(AUTS2):c.-1003_-1001dup variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0202 in 128144 control chromosomes in the gnomAD Genomes database, including 71 homozygotes. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -10 ACMG points.
GnomAD3 genomes AF: 0.0202AC: 2587AN: 128144Hom.: 71Cov.: 30 GnomAD4 exome AF: 0.00112AC: 23AN: 20604Hom.: 0 AF XY: 0.000837AC XY: 11AN XY: 13144
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Apr 17, 2020||- -|
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