rs17174829
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000914.5(OPRM1):c.820G>A(p.Asp274Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00027 in 1,614,212 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OPRM1 | NM_000914.5 | c.820G>A | p.Asp274Asn | missense_variant | 3/4 | ENST00000330432.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OPRM1 | ENST00000330432.12 | c.820G>A | p.Asp274Asn | missense_variant | 3/4 | 1 | NM_000914.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000144 AC: 36AN: 249744Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 135438
GnomAD4 exome AF: 0.000283 AC: 414AN: 1461886Hom.: 0 Cov.: 32 AF XY: 0.000263 AC XY: 191AN XY: 727244
GnomAD4 genome ? AF: 0.000144 AC: 22AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74490
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at