rs536071174
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002168.4(IDH2):c.360G>T(p.Glu120Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E120E) has been classified as Likely benign.
Frequency
Consequence
NM_002168.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IDH2 | NM_002168.4 | c.360G>T | p.Glu120Asp | missense_variant | 3/11 | ENST00000330062.8 | |
IDH2 | NM_001289910.1 | c.204G>T | p.Glu68Asp | missense_variant | 3/11 | ||
IDH2 | NM_001290114.2 | c.-17-1745G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IDH2 | ENST00000330062.8 | c.360G>T | p.Glu120Asp | missense_variant | 3/11 | 1 | NM_002168.4 | P1 | |
IDH2 | ENST00000540499.2 | c.204G>T | p.Glu68Asp | missense_variant | 3/11 | 2 | |||
IDH2 | ENST00000559482.5 | c.207+1061G>T | intron_variant | 5 | |||||
IDH2 | ENST00000560061.1 | c.116-1745G>T | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.