rs2242480
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017460.6(CYP3A4):c.1026+12G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.153 in 1,613,368 control chromosomes in the GnomAD database, including 39,387 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★).
Frequency
Consequence
NM_017460.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.310 AC: 47072AN: 151980Hom.: 13221 Cov.: 32
GnomAD3 exomes AF: 0.224 AC: 56141AN: 250424Hom.: 10944 AF XY: 0.209 AC XY: 28306AN XY: 135360
GnomAD4 exome AF: 0.137 AC: 200071AN: 1461268Hom.: 26117 Cov.: 32 AF XY: 0.139 AC XY: 100880AN XY: 726938
GnomAD4 genome AF: 0.310 AC: 47186AN: 152100Hom.: 13270 Cov.: 32 AF XY: 0.310 AC XY: 23012AN XY: 74348
ClinVar
Submissions by phenotype
tacrolimus response - Metabolism/PK Other:1
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: Metabolism/PK
fentanyl response - Dosage Other:1
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: Dosage
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at