4-69098553-A-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001074.4(UGT2B7):āc.735A>Gā(p.Thr245Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.14 in 1,604,518 control chromosomes in the GnomAD database, including 18,331 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 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT2B7 | NM_001074.4 | c.735A>G | p.Thr245Thr | synonymous_variant | Exon 2 of 6 | ENST00000305231.12 | NP_001065.2 | |
UGT2B7 | NM_001330719.2 | c.735A>G | p.Thr245Thr | synonymous_variant | Exon 2 of 5 | NP_001317648.1 | ||
UGT2B7 | NM_001349568.2 | c.-13A>G | 5_prime_UTR_variant | Exon 3 of 7 | NP_001336497.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.159 AC: 23917AN: 150748Hom.: 2149 Cov.: 30
GnomAD3 exomes AF: 0.172 AC: 42073AN: 244836Hom.: 4901 AF XY: 0.162 AC XY: 21491AN XY: 132718
GnomAD4 exome AF: 0.138 AC: 200354AN: 1453658Hom.: 16179 Cov.: 43 AF XY: 0.136 AC XY: 98393AN XY: 723090
GnomAD4 genome AF: 0.159 AC: 23936AN: 150860Hom.: 2152 Cov.: 30 AF XY: 0.165 AC XY: 12137AN XY: 73594
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