rs1554093885
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP2PP3PP5
The NM_001371727.1(GABRB2):c.908A>G(p.Lys303Arg) 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. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K303N) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001371727.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRB2 | NM_001371727.1 | c.908A>G | p.Lys303Arg | missense_variant | 8/10 | ENST00000393959.6 | |
GABRB2 | NM_021911.3 | c.908A>G | p.Lys303Arg | missense_variant | 9/11 | ||
GABRB2 | NM_000813.3 | c.908A>G | p.Lys303Arg | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRB2 | ENST00000393959.6 | c.908A>G | p.Lys303Arg | missense_variant | 8/10 | 1 | NM_001371727.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Epileptic encephalopathy, infantile or early childhood, 2 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 15, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at