Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2_SupportingPP3_Moderate
The NM_001079866.2(BCS1L):c.-50+2T>G variant causes a splice donor 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. 2/2 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
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Verdict is Pathogenic. Variant got 11 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter
|Jan 08, 2018
Find out detailed SpliceAI scores and Pangolin per-transcript scores at