Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2_SupportingPP5BP4
The NM_001079866.2(BCS1L):c.-49-539T>A variant causes a 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 Conflicting classifications of pathogenicity (no stars).
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Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Likely pathogenic, no assertion criteria provided
|Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|Uncertain significance, criteria provided, single submitter
|Jun 07, 2018
Find out detailed SpliceAI scores and Pangolin per-transcript scores at