rs17174794
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000914.5(OPRM1):c.440C>G(p.Ser147Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00618 in 1,613,352 control chromosomes in the GnomAD database, including 42 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000914.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OPRM1 | NM_000914.5 | c.440C>G | p.Ser147Cys | missense_variant | 2/4 | ENST00000330432.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OPRM1 | ENST00000330432.12 | c.440C>G | p.Ser147Cys | missense_variant | 2/4 | 1 | NM_000914.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00406 AC: 618AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00414 AC: 1033AN: 249580Hom.: 1 AF XY: 0.00387 AC XY: 524AN XY: 135400
GnomAD4 exome AF: 0.00640 AC: 9356AN: 1461056Hom.: 42 Cov.: 31 AF XY: 0.00613 AC XY: 4458AN XY: 726882
GnomAD4 genome ? AF: 0.00406 AC: 618AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.00365 AC XY: 272AN XY: 74484
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Oct 12, 2015 | - - |
Tramadol response Other:1
drug response, no assertion criteria provided | research | Bruce Budowle Laboratory, University of North Texas Health Science Center | Apr 28, 2018 | - 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