Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_015570(AUTS2):c.28C>G(p.Leu10Val) 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
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||GeneDx||Jan 08, 2021||Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.