rs1042114

Variant names:

• chr1-28812463-G-C
• rs1042114
• NM_000911.4:c.80G>C

Your query was ambiguous. Multiple possible variants found:

• chr1-28812463-G-C
• chr1-28812463-G-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_000911.4(OPRD1):​c.80G>C​(p.Cys27Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 35)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: OPRD1 NM_000911.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.260
• Publications: 86 publications found

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]

ENSG00000305996 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.05548498).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OPRD1	NM_000911.4	c.80G>C	p.Cys27Ser	missense_variant	Exon 1 of 3	ENST00000234961.7	NP_000902.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OPRD1	ENST00000234961.7	c.80G>C	p.Cys27Ser	missense_variant	Exon 1 of 3	1	NM_000911.4	ENSP00000234961.2
ENSG00000305996	ENST00000814652.1	n.92-15460G>C		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes Cov.: 35

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 1370558 Hom.: 0 Cov.: 61 AF XY: 0.00 AC XY: 0 AN XY: 677032

African (AFR) AF: 0.00 AC: 0 AN: 28678

American (AMR) AF: 0.00 AC: 0 AN: 34240

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 24402

East Asian (EAS) AF: 0.00 AC: 0 AN: 33142

South Asian (SAS) AF: 0.00 AC: 0 AN: 77370

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 36204

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 4854

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1074502

Other (OTH) AF: 0.00 AC: 0 AN: 57166

GnomAD4 genome Cov.: 35

Alfa AF: 0.00 Hom.: 87830

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.053
BayesDel_addAF	Benign	-0.26	T
BayesDel_noAF	Benign	-0.61
CADD	Benign	14
DANN	Benign	0.54
DEOGEN2	Benign	0.073	.;T
Eigen	Benign	-1.2
Eigen_PC	Benign	-1.0
FATHMM_MKL	Benign	0.041	N
LIST_S2	Benign	0.34	T;T
M_CAP	Pathogenic	0.36	D
MetaRNN	Benign	0.055	T;T
MetaSVM	Benign	-0.95	T
MutationAssessor	Benign	0.0	.;N
PhyloP100		0.26
PrimateAI	Pathogenic	0.82	D
PROVEAN	Benign	0.55	.;N
REVEL	Benign	0.062
Sift	Benign	0.42	.;T
Sift4G	Benign	0.46	T;T
Polyphen		0.0	.;B
Vest4		0.050
MutPred		0.22		Gain of glycosylation at C27 (P = 0.0038);Gain of glycosylation at C27 (P = 0.0038);
MVP		0.31
MPC		0.91
ClinPred		0.038	T
GERP RS		2.9
PromoterAI		0.21	Neutral
Varity_R		0.042
gMVP		0.40
Mutation Taster		=98/2	polymorphism

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

Other links and lift over

dbSNP: rs1042114; hg19: chr1-29138975;