Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The ENST00000392109.5(BCS1L):c.-231-12C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000723 in 152122 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
ENST00000392109.5 splice_polypyrimidine_tract, intron
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Verdict is Likely_benign. Variant got -6 ACMG points.
GnomAD3 genomes AF: 0.0000723AC: 11AN: 152122Hom.: 0Cov.: 32
Submissions by phenotype
|Likely benign, criteria provided, single submitter
|Oct 02, 2017
|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