Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_000789(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as drug response (★★★).
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 27
Submissions by phenotype
Risk of requirement of invasive mechanical ventilation in patients with severe COVID-19
|Uncertain significance, no assertion criteria provided||research||HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas||-||- -|
captopril 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 detailed SpliceAI scores and Pangolin per-transcript scores at