rs1799971
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM1BP4_StrongBA1
The NM_000914.5(OPRM1):āc.118A>Gā(p.Asn40Asp) variant causes a missense change. The variant allele was found at a frequency of 0.151 in 1,613,692 control chromosomes in the GnomAD database, including 23,773 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance,drug response (no stars).
Frequency
Consequence
NM_000914.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.130 AC: 19734AN: 152054Hom.: 1912 Cov.: 32
GnomAD3 exomes AF: 0.188 AC: 46959AN: 249224Hom.: 5913 AF XY: 0.196 AC XY: 26451AN XY: 135238
GnomAD4 exome AF: 0.153 AC: 223836AN: 1461520Hom.: 21864 Cov.: 33 AF XY: 0.159 AC XY: 115536AN XY: 726998
GnomAD4 genome AF: 0.130 AC: 19716AN: 152172Hom.: 1909 Cov.: 32 AF XY: 0.141 AC XY: 10499AN XY: 74372
ClinVar
Submissions by phenotype
Opioid dependence, susceptibility to, 1 Uncertain:1
- -
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