Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PM2_SupportingBP4
The NM_015570(AUTS2):c.64C>T(p.Arg22Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Uncertain_significance.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 0.0000111AC: 13AN: 1173092Hom.: 0 AF XY: 0.00000881AC XY: 5AN XY: 567314
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||GeneDx||Apr 20, 2022||Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at