Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PM2_SupportingBP4
The NM_015570.4(AUTS2):c.40C>T(p.Arg14Trp) 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 (★★).
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Verdict is Uncertain_significance.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter
|May 11, 2023
|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 -
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.