rs5925196
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018558.4(GABRQ):c.239-1100T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 112,026 control chromosomes in the GnomAD database, including 825 homozygotes. There are 4,240 hemizygotes in GnomAD. 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_018558.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRQ | NM_018558.4 | c.239-1100T>A | intron_variant | ENST00000598523.3 | |||
MAGEA3-DT | XR_938525.3 | n.157-4633A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRQ | ENST00000598523.3 | c.239-1100T>A | intron_variant | 1 | NM_018558.4 | P1 | |||
MAGEA3-DT | ENST00000671457.1 | n.130-4633A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.131 AC: 14704AN: 111971Hom.: 825 Cov.: 24 AF XY: 0.124 AC XY: 4239AN XY: 34179
GnomAD4 genome AF: 0.131 AC: 14700AN: 112026Hom.: 825 Cov.: 24 AF XY: 0.124 AC XY: 4240AN XY: 34244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at