3-127781859-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_007283.7(MGLL):c.192C>T(p.His64His) variant causes a synonymous change. The variant allele was found at a frequency of 0.000247 in 1,614,114 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_007283.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MGLL | NM_007283.7 | c.192C>T | p.His64His | synonymous_variant | Exon 3 of 8 | ENST00000265052.10 | NP_009214.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MGLL | ENST00000265052.10 | c.192C>T | p.His64His | synonymous_variant | Exon 3 of 8 | 1 | NM_007283.7 | ENSP00000265052.5 |
Frequencies
GnomAD3 genomes AF: 0.00141 AC: 215AN: 152170Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000381 AC: 95AN: 249322Hom.: 1 AF XY: 0.000251 AC XY: 34AN XY: 135302
GnomAD4 exome AF: 0.000122 AC: 178AN: 1461826Hom.: 0 Cov.: 31 AF XY: 0.000103 AC XY: 75AN XY: 727208
GnomAD4 genome AF: 0.00144 AC: 220AN: 152288Hom.: 2 Cov.: 32 AF XY: 0.00129 AC XY: 96AN XY: 74462
ClinVar
Submissions by phenotype
not provided Benign:1
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MGLL-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at