chr4-46951480-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000809.4(GABRA4):c.1134+13490A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,758 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRA4 | NM_000809.4 | c.1134+13490A>C | intron_variant | Intron 8 of 8 | ENST00000264318.4 | NP_000800.2 | ||
GABRA4 | NM_001204266.2 | c.1077+13490A>C | intron_variant | Intron 8 of 8 | NP_001191195.1 | |||
GABRA4 | NM_001204267.2 | c.924+13490A>C | intron_variant | Intron 7 of 7 | NP_001191196.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GABRA4 | ENST00000264318.4 | c.1134+13490A>C | intron_variant | Intron 8 of 8 | 1 | NM_000809.4 | ENSP00000264318.3 | |||
GABRA4 | ENST00000508560.5 | n.*955+13490A>C | intron_variant | Intron 8 of 8 | 3 | ENSP00000425445.1 | ||||
GABRA4 | ENST00000511523.5 | n.*802+13490A>C | intron_variant | Intron 7 of 7 | 3 | ENSP00000422152.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151646Hom.: 0 Cov.: 31
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151758Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74132
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.