rs5970269
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000808.4(GABRA3):c.263-29536C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.212 in 110,434 control chromosomes in the GnomAD database, including 2,275 homozygotes. There are 6,649 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
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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 |
---|---|---|---|---|---|---|---|
GABRA3 | NM_000808.4 | c.263-29536C>T | intron_variant | ENST00000370314.9 | |||
GABRA3 | XM_006724811.4 | c.263-29536C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRA3 | ENST00000370314.9 | c.263-29536C>T | intron_variant | 1 | NM_000808.4 | P1 | |||
GABRA3 | ENST00000535043.1 | c.263-29536C>T | intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.212 AC: 23430AN: 110382Hom.: 2275 Cov.: 22 AF XY: 0.202 AC XY: 6612AN XY: 32714
GnomAD4 genome ? AF: 0.212 AC: 23464AN: 110434Hom.: 2275 Cov.: 22 AF XY: 0.203 AC XY: 6649AN XY: 32776
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at