22-42126462-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000439129.5(NDUFA6-DT):n.1718+1055G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00903 in 1,250,840 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars).
Frequency
Consequence
ENST00000439129.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFA6-DT | ENST00000439129.5 | n.1718+1055G>A | intron_variant | Intron 5 of 6 | 5 | |||||
CYP2D6 | ENST00000645361.2 | c.*112C>T | downstream_gene_variant | NM_000106.6 | ENSP00000496150.1 | |||||
CYP2D6 | ENST00000360124.9 | n.*681C>T | downstream_gene_variant | 1 | ENSP00000353241.6 |
Frequencies
GnomAD3 genomes AF: 0.00581 AC: 881AN: 151506Hom.: 1 Cov.: 33
GnomAD4 exome AF: 0.00947 AC: 10410AN: 1099216Hom.: 8 Cov.: 16 AF XY: 0.00905 AC XY: 4895AN XY: 540856
GnomAD4 genome AF: 0.00581 AC: 881AN: 151624Hom.: 1 Cov.: 33 AF XY: 0.00546 AC XY: 405AN XY: 74114
ClinVar
Submissions by phenotype
Tramadol response Other:1
- T:M1 = postmortem ratio or tramadol to O-desmethyltramadol; t-MP = model-based clustered metabolizer phenotype inferred from T:M1
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at