3-127722447-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007283.7(MGLL):c.382C>T(p.Leu128Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,614,124 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007283.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MGLL | NM_007283.7 | c.382C>T | p.Leu128Phe | missense_variant | Exon 4 of 8 | ENST00000265052.10 | NP_009214.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MGLL | ENST00000265052.10 | c.382C>T | p.Leu128Phe | missense_variant | Exon 4 of 8 | 1 | NM_007283.7 | ENSP00000265052.5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000681 AC: 17AN: 249552Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135386
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727244
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.382C>T (p.L128F) alteration is located in exon 4 (coding exon 4) of the MGLL gene. This alteration results from a C to T substitution at nucleotide position 382, causing the leucine (L) at amino acid position 128 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at