21-33070794-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138983.3(OLIG1):c.548C>T(p.Ala183Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000674 in 148,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138983.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLIG1 | ENST00000382348.2 | c.548C>T | p.Ala183Val | missense_variant | Exon 1 of 1 | 6 | NM_138983.3 | ENSP00000371785.1 | ||
ENSG00000227757 | ENST00000454622.2 | n.201+110G>A | intron_variant | Intron 1 of 1 | 2 | |||||
OLIG1 | ENST00000426947.5 | c.-173C>T | upstream_gene_variant | 2 | ENSP00000414840.1 |
Frequencies
GnomAD3 genomes AF: 0.00000674 AC: 1AN: 148274Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1050920Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 496458
GnomAD4 genome AF: 0.00000674 AC: 1AN: 148380Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.548C>T (p.A183V) alteration is located in exon 1 (coding exon 1) of the OLIG1 gene. This alteration results from a C to T substitution at nucleotide position 548, causing the alanine (A) at amino acid position 183 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
Publications
No publications associated with this variant yet.