NM_000809.4:c.206-4635T>G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000809.4(GABRA4):c.206-4635T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.809 in 152,010 control chromosomes in the GnomAD database, including 50,020 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000809.4 intron
Scores
Clinical Significance
Conservation
Publications
- genetic developmental and epileptic encephalopathyInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics, Illumina
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_000809.4. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| GABRA4 | NM_000809.4 | MANE Select | c.206-4635T>G | intron | N/A | NP_000800.2 | |||
| GABRA4 | NM_001204266.2 | c.149-4635T>G | intron | N/A | NP_001191195.1 | ||||
| GABRA4 | NM_001204267.2 | c.149-4635T>G | intron | N/A | NP_001191196.1 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| GABRA4 | ENST00000264318.4 | TSL:1 MANE Select | c.206-4635T>G | intron | N/A | ENSP00000264318.3 | |||
| GABRA4 | ENST00000502874.1 | TSL:5 | n.87-4635T>G | intron | N/A | ENSP00000424386.1 | |||
| GABRA4 | ENST00000508560.5 | TSL:3 | n.*27-4635T>G | intron | N/A | ENSP00000425445.1 |
Frequencies
GnomAD3 genomes AF: 0.808 AC: 122793AN: 151892Hom.: 49953 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.809 AC: 122917AN: 152010Hom.: 50020 Cov.: 32 AF XY: 0.809 AC XY: 60129AN XY: 74298 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at