NM_007283.7:c.438G>A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_007283.7(MGLL):c.438G>A(p.Pro146Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000466 in 1,614,198 control chromosomes in the GnomAD database, including 7 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 -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MGLL | NM_007283.7 | c.438G>A | p.Pro146Pro | synonymous_variant | Exon 5 of 8 | ENST00000265052.10 | NP_009214.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MGLL | ENST00000265052.10 | c.438G>A | p.Pro146Pro | synonymous_variant | Exon 5 of 8 | 1 | NM_007283.7 | ENSP00000265052.5 |
Frequencies
GnomAD3 genomes AF: 0.00260 AC: 395AN: 152198Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.000565 AC: 141AN: 249458Hom.: 2 AF XY: 0.000465 AC XY: 63AN XY: 135368
GnomAD4 exome AF: 0.000243 AC: 355AN: 1461882Hom.: 4 Cov.: 31 AF XY: 0.000199 AC XY: 145AN XY: 727244
GnomAD4 genome AF: 0.00261 AC: 397AN: 152316Hom.: 3 Cov.: 33 AF XY: 0.00275 AC XY: 205AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:1
- -
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