11-132771851-T-G

Variant names:

• chr11-132771851-T-G
• rs10894604
• NM_001012393.5:c.147-114532A>C

Variant summary

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

The NM_001012393.5(OPCML):​c.147-114532A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.255 in 152,188 control chromosomes in the GnomAD database, including 5,624 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 0.25 (5624 hom., cov: 33)
  • Exomes 𝑓: 0.38 (0 hom.)
• Consequence: OPCML NM_001012393.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.113
• Publications: 8 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]

ENSG00000279497 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.61).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.339 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001012393.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OPCML	NM_001012393.5	MANE Select	c.147-114532A>C		intron	N/A	NP_001012393.1
	OPCML	NM_001319103.2		c.168-114532A>C		intron	N/A	NP_001306032.1
	OPCML	NM_002545.5		c.168-114532A>C		intron	N/A	NP_002536.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OPCML	ENST00000524381.6	TSL:1 MANE Select	c.147-114532A>C		intron	N/A	ENSP00000434750.1
	OPCML	ENST00000331898.11	TSL:1	c.168-114532A>C		intron	N/A	ENSP00000330862.7
	OPCML	ENST00000374778.4	TSL:1	c.45-114532A>C		intron	N/A	ENSP00000363910.4

Frequencies

GnomAD3 genomes AF: 0.255 AC: 38770 AN: 152060 Hom.: 5623 Cov.: 33

Gnomad AFR AF: 0.156

Gnomad AMI AF: 0.347

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.291

Gnomad EAS AF: 0.0327

Gnomad SAS AF: 0.144

Gnomad FIN AF: 0.259

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.265

GnomAD4 exome AF: 0.375 AC: 3 AN: 8 Hom.: 0 Cov.: 0 AF XY: 0.500 AC XY: 1 AN XY: 2

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AF: 0.250 AC: 1 AN: 4

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.500 AC: 1 AN: 2

Other (OTH) AF: 0.500 AC: 1 AN: 2

GnomAD4 genome AF: 0.255 AC: 38767 AN: 152180 Hom.: 5624 Cov.: 33 AF XY: 0.245 AC XY: 18245 AN XY: 74412

African (AFR) AF: 0.156 AC: 6472 AN: 41518

American (AMR) AF: 0.226 AC: 3455 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.291 AC: 1010 AN: 3470

East Asian (EAS) AF: 0.0328 AC: 170 AN: 5184

South Asian (SAS) AF: 0.143 AC: 687 AN: 4820

European-Finnish (FIN) AF: 0.259 AC: 2737 AN: 10588

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.343 AC: 23291 AN: 67996

Other (OTH) AF: 0.264 AC: 557 AN: 2112

Alfa AF: 0.251 Hom.: 1973

Bravo AF: 0.251

Asia WGS AF: 0.0910 AC: 317 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.61
CADD	Benign	12
DANN	Benign	0.72
PhyloP100		0.11
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs10894604; hg19: chr11-132641746;