Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_015570(AUTS2):c.96_119del(p.Ala34_Gly41del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 0.00000250AC: 3AN: 1198688Hom.: 1 AF XY: 0.00000343AC XY: 2AN XY: 582498
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||GeneDx||Jul 27, 2022||Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 8 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.