rs782444
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007283.7(MGLL):c.*1100A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.521 in 152,570 control chromosomes in the GnomAD database, including 21,092 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 0.52 ( 21036 hom., cov: 34)
Exomes 𝑓: 0.46 ( 56 hom. )
Consequence
MGLL
NM_007283.7 3_prime_UTR
NM_007283.7 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.810
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.654 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MGLL | NM_007283.7 | c.*1100A>G | 3_prime_UTR_variant | 8/8 | ENST00000265052.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MGLL | ENST00000265052.10 | c.*1100A>G | 3_prime_UTR_variant | 8/8 | 1 | NM_007283.7 | |||
MGLL | ENST00000398104.6 | c.*1100A>G | 3_prime_UTR_variant | 8/8 | 5 | P1 | |||
MGLL | ENST00000453507.7 | c.*1100A>G | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.522 AC: 79257AN: 151928Hom.: 21031 Cov.: 34
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GnomAD4 exome AF: 0.462 AC: 242AN: 524Hom.: 56 Cov.: 0 AF XY: 0.500 AC XY: 163AN XY: 326
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GnomAD4 genome ? AF: 0.521 AC: 79291AN: 152046Hom.: 21036 Cov.: 34 AF XY: 0.516 AC XY: 38314AN XY: 74320
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at