NM_000811.3:c.255G>C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_000811.3(GABRA6):āc.255G>Cā(p.Gln85His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00152 in 1,613,872 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000811.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000907 AC: 138AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000911 AC: 229AN: 251310Hom.: 1 AF XY: 0.000972 AC XY: 132AN XY: 135846
GnomAD4 exome AF: 0.00158 AC: 2315AN: 1461682Hom.: 3 Cov.: 32 AF XY: 0.00156 AC XY: 1134AN XY: 727156
GnomAD4 genome AF: 0.000913 AC: 139AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.000820 AC XY: 61AN XY: 74404
ClinVar
Submissions by phenotype
Childhood absence epilepsy Uncertain:1
This sequence change replaces glutamine with histidine at codon 85 of the GABRA6 protein (p.Gln85His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs115069685, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with GABRA6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at