4-69098491-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001074.4(UGT2B7):c.722-49A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.498 in 1,567,062 control chromosomes in the GnomAD database, including 200,178 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars).
Frequency
Consequence
NM_001074.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT2B7 | NM_001074.4 | c.722-49A>G | intron_variant | Intron 1 of 5 | ENST00000305231.12 | NP_001065.2 | ||
UGT2B7 | NM_001330719.2 | c.722-49A>G | intron_variant | Intron 1 of 4 | NP_001317648.1 | |||
UGT2B7 | NM_001349568.2 | c.-26-49A>G | intron_variant | Intron 2 of 6 | NP_001336497.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.576 AC: 87059AN: 151076Hom.: 26083 Cov.: 30
GnomAD3 exomes AF: 0.549 AC: 116698AN: 212428Hom.: 33188 AF XY: 0.541 AC XY: 62993AN XY: 116366
GnomAD4 exome AF: 0.489 AC: 692468AN: 1415874Hom.: 174050 Cov.: 30 AF XY: 0.490 AC XY: 344857AN XY: 703380
GnomAD4 genome AF: 0.576 AC: 87156AN: 151188Hom.: 26128 Cov.: 30 AF XY: 0.585 AC XY: 43161AN XY: 73756
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