rs375002796
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_005918.4(MDH2):c.398C>G(p.Pro133Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P133L) has been classified as Pathogenic.
Frequency
Consequence
NM_005918.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MDH2 | NM_005918.4 | c.398C>G | p.Pro133Arg | missense_variant | 4/9 | ENST00000315758.10 | |
MDH2 | NM_001282403.2 | c.398C>G | p.Pro133Arg | missense_variant | 4/8 | ||
MDH2 | NM_001282404.2 | c.77C>G | p.Pro26Arg | missense_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MDH2 | ENST00000315758.10 | c.398C>G | p.Pro133Arg | missense_variant | 4/9 | 1 | NM_005918.4 | P1 | |
MDH2 | ENST00000432020.2 | c.398C>G | p.Pro133Arg | missense_variant | 4/8 | 2 | |||
MDH2 | ENST00000443006.5 | c.77C>G | p.Pro26Arg | missense_variant | 3/8 | 2 | |||
MDH2 | ENST00000461665.5 | n.423C>G | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461300Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726976
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at