rs482387

Positions:

• chr1-28846112-G-A
• chr1-28846112-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_000911.4(OPRD1):​c.228-12842G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.424 in 152,004 control chromosomes in the GnomAD database, including 15,365 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.42 (15365 hom., cov: 31)
• Consequence: OPRD1 NM_000911.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610

Genes affected

OPRD1 (HGNC:8153): (opioid receptor delta 1) Enables G protein-coupled enkephalin receptor activity. Involved in several processes, including G protein-coupled opioid receptor signaling pathway; cellular response to hypoxia; and positive regulation of peptidyl-serine phosphorylation. Is intrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.85 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
OPRD1	NM_000911.4	c.228-12842G>A		intron_variant		ENST00000234961.7	NP_000902.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
OPRD1	ENST00000234961.7	c.228-12842G>A		intron_variant		1	NM_000911.4	ENSP00000234961	P1

Frequencies

GnomAD3 genomes AF: 0.424 AC: 64387 AN: 151886 Hom.: 15357 Cov.: 31

Gnomad AFR AF: 0.224

Gnomad AMI AF: 0.499

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.460

Gnomad EAS AF: 0.871

Gnomad SAS AF: 0.622

Gnomad FIN AF: 0.536

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.471

Gnomad OTH AF: 0.396

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.424 AC: 64423 AN: 152004 Hom.: 15365 Cov.: 31 AF XY: 0.431 AC XY: 32026 AN XY: 74280

Gnomad4 AFR AF: 0.224

Gnomad4 AMR AF: 0.458

Gnomad4 ASJ AF: 0.460

Gnomad4 EAS AF: 0.871

Gnomad4 SAS AF: 0.622

Gnomad4 FIN AF: 0.536

Gnomad4 NFE AF: 0.471

Gnomad4 OTH AF: 0.399

Alfa AF: 0.435 Hom.: 1868

Bravo AF: 0.405

Asia WGS AF: 0.680 AC: 2362 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.4
DANN	Benign	0.73

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs482387; hg19: chr1-29172624;