Variant rs12720072 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_016083.6(CNR1):c.-63-3118_-63-3117insG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 30)

Consequence

CNR1
NM_016083.6 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.168

Variant links:

Genes affected

CNR1 (HGNC:2159): (cannabinoid receptor 1) This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]

CNR1 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CNR1	NM_016083.6 linkuse as main transcript	c.-63-3118_-63-3117insG		intron_variant		ENST00000369501.3

Ensembl

Gene	Transcript	HGVSc	Effect	TSL	MANE	Appris	UniProt
CNR1	ENST00000369501.3 linkuse as main transcript	c.-63-3118_-63-3117insG	intron_variant	1	NM_016083.6	P1	P21554-1
CNR1	ENST00000428600.3 linkuse as main transcript	c.-63-3118_-63-3117insG	intron_variant	1		P1	P21554-1
CNR1	ENST00000369499.3 linkuse as main transcript	c.-63-3118_-63-3117insG	intron_variant	5		P1	P21554-1
CNR1	ENST00000551417.2 linkuse as main transcript	c.-206-649_-206-648insG	intron_variant	5		P1	P21554-1

Frequencies

GnomAD3 genomes

Cov.:

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

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing