rs374353919
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007283.7(MGLL):c.521C>T(p.Ala174Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000809 in 1,570,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MGLL | NM_007283.7 | c.521C>T | p.Ala174Val | missense_variant | Exon 6 of 8 | ENST00000265052.10 | NP_009214.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MGLL | ENST00000265052.10 | c.521C>T | p.Ala174Val | missense_variant | Exon 6 of 8 | 1 | NM_007283.7 | ENSP00000265052.5 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000501 AC: 9AN: 179568Hom.: 0 AF XY: 0.0000626 AC XY: 6AN XY: 95778
GnomAD4 exome AF: 0.0000853 AC: 121AN: 1417912Hom.: 0 Cov.: 31 AF XY: 0.0000813 AC XY: 57AN XY: 700968
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521C>T (p.A174V) alteration is located in exon 6 (coding exon 6) of the MGLL gene. This alteration results from a C to T substitution at nucleotide position 521, causing the alanine (A) at amino acid position 174 to be replaced by a valine (V). 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