Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_015570(AUTS2):c.115G>A(p.Gly39Arg) 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: 8.00e-7AC: 1AN: 1250208Hom.: 0 AF XY: 0.00000163AC XY: 1AN XY: 612968
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||Invitae||May 25, 2022||This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 39 of the AUTS2 protein (p.Gly39Arg). 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: "Probably 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. -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.