rs6590705

Variant names:

• chr11-133464627-C-A
• rs6590705
• NM_001012393.5:c.61+67637G>T

Your query was ambiguous. Multiple possible variants found:

• chr11-133464627-C-A
• chr11-133464627-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001012393.5(OPCML):​c.61+67637G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.215 in 151,954 control chromosomes in the GnomAD database, including 9,420 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 0.22 (9420 hom., cov: 32)
• Consequence: OPCML NM_001012393.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.150
• Publications: 5 publications found

Genes affected

OPCML (HGNC:8143): (opioid binding protein/cell adhesion molecule like) This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.652 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OPCML	NM_001012393.5	c.61+67637G>T		intron_variant	Intron 1 of 7	ENST00000524381.6	NP_001012393.1
OPCML	NM_001319104.4	c.-134+67637G>T		intron_variant	Intron 1 of 6		NP_001306033.1
OPCML	XM_006718846.4	c.61+67637G>T		intron_variant	Intron 1 of 7		XP_006718909.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OPCML	ENST00000524381.6	c.61+67637G>T		intron_variant	Intron 1 of 7	1	NM_001012393.5	ENSP00000434750.1
OPCML	ENST00000529038.5	n.139+67637G>T		intron_variant	Intron 1 of 6	5

Frequencies

GnomAD3 genomes AF: 0.215 AC: 32603 AN: 151834 Hom.: 9377 Cov.: 32

Gnomad AFR AF: 0.658

Gnomad AMI AF: 0.00549

Gnomad AMR AF: 0.0958

Gnomad ASJ AF: 0.0926

Gnomad EAS AF: 0.155

Gnomad SAS AF: 0.117

Gnomad FIN AF: 0.0181

Gnomad MID AF: 0.105

Gnomad NFE AF: 0.0254

Gnomad OTH AF: 0.164

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

GnomAD4 genome AF: 0.215 AC: 32704 AN: 151954 Hom.: 9420 Cov.: 32 AF XY: 0.212 AC XY: 15767 AN XY: 74274

African (AFR) AF: 0.659 AC: 27260 AN: 41394

American (AMR) AF: 0.0956 AC: 1460 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.0926 AC: 321 AN: 3468

East Asian (EAS) AF: 0.154 AC: 796 AN: 5166

South Asian (SAS) AF: 0.117 AC: 565 AN: 4812

European-Finnish (FIN) AF: 0.0181 AC: 191 AN: 10558

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 292

European-Non Finnish (NFE) AF: 0.0254 AC: 1729 AN: 67980

Other (OTH) AF: 0.163 AC: 343 AN: 2108

Alfa AF: 0.0915 Hom.: 7261

Bravo AF: 0.240

Asia WGS AF: 0.158 AC: 551 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.2
DANN	Benign	0.29
PhyloP100		0.15
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs6590705; hg19: chr11-133334522;