5-161685998-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_000811.3(GABRA6):c.9G>A(p.Ser3Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.23 in 1,611,882 control chromosomes in the GnomAD database, including 46,739 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000811.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.177 AC: 26950AN: 152006Hom.: 3113 Cov.: 32
GnomAD3 exomes AF: 0.190 AC: 47863AN: 251412Hom.: 5443 AF XY: 0.192 AC XY: 26113AN XY: 135876
GnomAD4 exome AF: 0.235 AC: 343052AN: 1459758Hom.: 43626 Cov.: 31 AF XY: 0.232 AC XY: 168206AN XY: 726248
GnomAD4 genome AF: 0.177 AC: 26949AN: 152124Hom.: 3113 Cov.: 32 AF XY: 0.175 AC XY: 12980AN XY: 74352
ClinVar
Submissions by phenotype
Childhood absence epilepsy Benign:1
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GABRA6-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at