Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PM2_SupportingBP4_StrongBP6_Moderate
The ENST00000412366.5(BCS1L):c.-94A>G variant causes a 5 prime UTR 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 Benign (★).
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Verdict is Likely_benign. Variant got -5 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Benign, criteria provided, single submitter
|Jul 06, 2011
|This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Find out detailed SpliceAI scores and Pangolin per-transcript scores at