Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_018136.5(ASPM):c.10331+5G>T variant causes a splice donor 5th base, intron 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 (★).
NM_018136.5 splice_donor_5th_base, intron
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Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter
|Oct 23, 2019
|Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. -
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.