rs1270614322
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000382357.4(OLIG2):c.349G>T(p.Glu117Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,560 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.
Frequency
Consequence
ENST00000382357.4 stop_gained
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLIG2 | NM_005806.4 | c.349G>T | p.Glu117Ter | stop_gained | 2/2 | ENST00000382357.4 | NP_005797.1 | |
OLIG2 | XM_005260908.2 | c.349G>T | p.Glu117Ter | stop_gained | 2/2 | XP_005260965.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLIG2 | ENST00000382357.4 | c.349G>T | p.Glu117Ter | stop_gained | 2/2 | 1 | NM_005806.4 | ENSP00000371794 | P1 | |
ENST00000454622.2 | n.201+43693C>A | intron_variant, non_coding_transcript_variant | 2 | |||||||
OLIG2 | ENST00000333337.3 | c.349G>T | p.Glu117Ter | stop_gained | 1/1 | ENSP00000331040 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243558Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132108
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458560Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 725278
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at