Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_015570(AUTS2):c.68A>G(p.Glu23Gly) 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 Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 0.0000162AC: 19AN: 1173400Hom.: 0 AF XY: 0.0000106AC XY: 6AN XY: 567532
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||Invitae||Jul 01, 2022||This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 23 of the AUTS2 protein (p.Glu23Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AUTS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -|
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