rs28455091
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_052865.4(MGME1):c.846T>A(p.Asp282Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000446 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D282D) has been classified as Benign.
Frequency
Consequence
NM_052865.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MGME1 | NM_052865.4 | c.846T>A | p.Asp282Glu | missense_variant | 4/5 | ENST00000377710.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MGME1 | ENST00000377710.10 | c.846T>A | p.Asp282Glu | missense_variant | 4/5 | 1 | NM_052865.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000658 AC: 10AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250724Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135536
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461518Hom.: 0 Cov.: 34 AF XY: 0.0000413 AC XY: 30AN XY: 727046
GnomAD4 genome ? AF: 0.0000658 AC: 10AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at