22-42126390-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000439129.5(NDUFA6-DT):n.1718+983G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 648,100 control chromosomes in the GnomAD database, including 17,575 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFA6-DT | ENST00000439129.5 | n.1718+983G>A | intron_variant | Intron 5 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.189 AC: 28373AN: 150378Hom.: 3786 Cov.: 32
GnomAD4 exome AF: 0.211 AC: 105074AN: 497606Hom.: 13793 AF XY: 0.210 AC XY: 53900AN XY: 256990
GnomAD4 genome AF: 0.188 AC: 28356AN: 150494Hom.: 3782 Cov.: 32 AF XY: 0.183 AC XY: 13467AN XY: 73488
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