rs869312939
Variant summary
Our verdict is Pathogenic. Variant got 17 ACMG points: 17P and 0B. PM1PM2PP2PP3_StrongPP5_Very_Strong
The NM_020988.3(GNAO1):c.133G>C(p.Gly45Arg) 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. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Synonymous variant affecting the same amino acid position (i.e. G45G) has been classified as Likely benign.
Frequency
Consequence
NM_020988.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNAO1 | NM_020988.3 | c.133G>C | p.Gly45Arg | missense_variant | 2/9 | ENST00000262493.12 | |
GNAO1-AS1 | NR_026889.1 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNAO1 | ENST00000262493.12 | c.133G>C | p.Gly45Arg | missense_variant | 2/9 | 1 | NM_020988.3 | P1 | |
GNAO1-AS1 | ENST00000567381.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 26
ClinVar
Submissions by phenotype
Inborn genetic diseases Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Ambry Genetics | - | Overall WES conclusion for patient, including all identified alterations: POSITIVE: Relevant Alteration(s) Detected - |
Early infantile epileptic encephalopathy with suppression bursts Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at