Our verdict is Pathogenic. Variant got 13 ACMG points: 13P and 0B. PVS1PS1_ModeratePM2_SupportingPP5_Moderate
The NM_015570(AUTS2):c.1A>T(p.Met1?) variant causes a start lost change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★).
Verdict is Pathogenic. Variant got 13 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
Autism spectrum disorder due to AUTS2 deficiency
|Pathogenic, criteria provided, single submitter||clinical testing||Molecular Genetics Laboratory Heidelberg, Heidelberg University||Jul 08, 2020||The variant leads to a loss of the start codon (PVS1), it was not found in DNA extracted from the parents' blood samples (PS2), the variant is absent from controls (gnomAD; PM2); therefore we classified it as pathogenic according to ACMG criteria. -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.