rs6627221
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000808.4(GABRA3):c.551+8376A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.274 in 110,134 control chromosomes in the GnomAD database, including 3,562 homozygotes. There are 8,690 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_000808.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRA3 | NM_000808.4 | c.551+8376A>G | intron_variant | ENST00000370314.9 | |||
GABRA3 | XM_006724811.4 | c.551+8376A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRA3 | ENST00000370314.9 | c.551+8376A>G | intron_variant | 1 | NM_000808.4 | P1 | |||
GABRA3 | ENST00000535043.1 | c.551+8376A>G | intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.274 AC: 30134AN: 110081Hom.: 3558 Cov.: 22 AF XY: 0.266 AC XY: 8644AN XY: 32461
GnomAD4 genome ? AF: 0.274 AC: 30181AN: 110134Hom.: 3562 Cov.: 22 AF XY: 0.267 AC XY: 8690AN XY: 32524
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at