rs3902802
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000808.4(GABRA3):c.-27+22417T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.158 in 110,855 control chromosomes in the GnomAD database, including 1,061 homozygotes. There are 5,057 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: 0.158 AC: 17527AN: 110797Hom.: 1062 Cov.: 23 AF XY: 0.153 AC XY: 5044AN XY: 33035
GnomAD4 genome AF: 0.158 AC: 17545AN: 110855Hom.: 1061 Cov.: 23 AF XY: 0.153 AC XY: 5057AN XY: 33103
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at