Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_StrongBA1
The variant allele was found at a frequency of 0.156 in 152098 control chromosomes in the gnomAD Genomes database, including 2231 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★).
Verdict is Benign. Variant got -16 ACMG points.
GnomAD3 genomes AF: 0.156AC: 23785AN: 152098Hom.: 2231Cov.: 32
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Mar 14, 2018||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. -|
interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy
|drug response, reviewed by expert panel||curation||PharmGKB||Mar 29, 2021||PharmGKB Level of Evidence 1B: Level 1B clinical annotations describe variant-drug combinations with a high level of evidence supporting the association but no variant-specific prescribing guidance in an annotated clinical guideline or FDA drug label. Level 1B clinical annotations must be supported by at least two independent publications. Drug-variant association: Efficacy|
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy
|drug response, reviewed by expert panel||curation||PharmGKB||Mar 24, 2021||PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. Drug-variant association: Efficacy|
Find out SpliceAI and Pangolin per-transcript scores at