NM_007283.7:c.263-11214A>C

Variant names:

• chr3-127733780-T-G
• rs6780384
• NM_007283.7:c.263-11214A>C

Variant summary

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

The NM_007283.7(MGLL):​c.263-11214A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.904 in 152,264 control chromosomes in the GnomAD database, including 62,405 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 0.90 (62405 hom., cov: 33)
• Consequence: MGLL NM_007283.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.399
• Publications: 3 publications found

Genes affected

MGLL (HGNC:17038): (monoglyceride lipase) This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.969 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MGLL	NM_007283.7	c.263-11214A>C		intron_variant	Intron 3 of 7	ENST00000265052.10	NP_009214.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MGLL	ENST00000265052.10	c.263-11214A>C		intron_variant	Intron 3 of 7	1	NM_007283.7	ENSP00000265052.5

Frequencies

GnomAD3 genomes AF: 0.904 AC: 137464 AN: 152146 Hom.: 62355 Cov.: 33

Gnomad AFR AF: 0.977

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.859

Gnomad ASJ AF: 0.926

Gnomad EAS AF: 0.805

Gnomad SAS AF: 0.788

Gnomad FIN AF: 0.845

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.893

Gnomad OTH AF: 0.914

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

GnomAD4 genome AF: 0.904 AC: 137573 AN: 152264 Hom.: 62405 Cov.: 33 AF XY: 0.898 AC XY: 66835 AN XY: 74438

African (AFR) AF: 0.977 AC: 40602 AN: 41574

American (AMR) AF: 0.858 AC: 13140 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.926 AC: 3216 AN: 3472

East Asian (EAS) AF: 0.804 AC: 4159 AN: 5172

South Asian (SAS) AF: 0.787 AC: 3797 AN: 4822

European-Finnish (FIN) AF: 0.845 AC: 8953 AN: 10594

Middle Eastern (MID) AF: 0.949 AC: 279 AN: 294

European-Non Finnish (NFE) AF: 0.893 AC: 60737 AN: 68006

Other (OTH) AF: 0.916 AC: 1934 AN: 2112

Alfa AF: 0.888 Hom.: 16076

Bravo AF: 0.907

Asia WGS AF: 0.820 AC: 2855 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.2
DANN	Benign	0.73
PhyloP100		-0.40
Mutation Taster		=100/0	polymorphism (auto)

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: rs6780384; hg19: chr3-127452623;