chr8-53229320-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000912.5(OPRK1):āc.1120G>Cā(p.Asp374His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,613,738 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D374N) has been classified as Likely benign.
Frequency
Consequence
NM_000912.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OPRK1 | NM_000912.5 | c.1120G>C | p.Asp374His | missense_variant | 4/4 | ENST00000265572.8 | NP_000903.2 | |
OPRK1 | NM_001318497.2 | c.1120G>C | p.Asp374His | missense_variant | 4/4 | NP_001305426.1 | ||
OPRK1 | NM_001282904.2 | c.853G>C | p.Asp285His | missense_variant | 5/5 | NP_001269833.1 | ||
LOC105375836 | NR_188096.1 | n.2032C>G | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 251002Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135634
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461530Hom.: 0 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 727032
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at