Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_015570(AUTS2):c.114_116dup(p.Gly38dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000264 in 151516 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomes AF: 0.0000264AC: 4AN: 151516Hom.: 0Cov.: 32 GnomAD4 exome AF: 0.0000189AC: 23AN: 1219330Hom.: 0 AF XY: 0.0000168AC XY: 10AN XY: 595024
Submissions by phenotype
Autism spectrum disorder due to AUTS2 deficiency
|Uncertain significance, criteria provided, single submitter||clinical testing||PerkinElmer Genomics||Mar 19, 2021||- -|
|Uncertain significance, criteria provided, single submitter||clinical testing||GeneDx||Dec 06, 2022||Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 1 amino acid in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at