rs2201169
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000808.4(GABRA3):c.262+23738T>C 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 109,528 control chromosomes in the GnomAD database, including 2,279 homozygotes. There are 6,367 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
Ensembl
Frequencies
GnomAD3 genomes AF: 0.212 AC: 23155AN: 109479Hom.: 2279 Cov.: 22 AF XY: 0.199 AC XY: 6333AN XY: 31829
GnomAD4 genome AF: 0.212 AC: 23186AN: 109528Hom.: 2279 Cov.: 22 AF XY: 0.200 AC XY: 6367AN XY: 31888
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at