8-53229802-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_000912.5(OPRK1):c.638A>G(p.Gln213Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000632 in 1,583,392 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000912.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OPRK1 | NM_000912.5 | c.638A>G | p.Gln213Arg | missense_variant | Exon 4 of 4 | ENST00000265572.8 | NP_000903.2 | |
OPRK1 | NM_001318497.2 | c.638A>G | p.Gln213Arg | missense_variant | Exon 4 of 4 | NP_001305426.1 | ||
OPRK1 | NM_001282904.2 | c.371A>G | p.Gln124Arg | missense_variant | Exon 5 of 5 | NP_001269833.1 | ||
LOC105375836 | NR_188096.1 | n.2514T>C | non_coding_transcript_exon_variant | Exon 3 of 3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000442 AC: 1AN: 226428 AF XY: 0.00000819 show subpopulations
GnomAD4 exome AF: 0.00000629 AC: 9AN: 1431278Hom.: 0 Cov.: 31 AF XY: 0.00000846 AC XY: 6AN XY: 708828 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74302 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.638A>G (p.Q213R) alteration is located in exon 4 (coding exon 3) of the OPRK1 gene. This alteration results from a A to G substitution at nucleotide position 638, causing the glutamine (Q) at amino acid position 213 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at