rs121913125
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_000814.6(GABRB3):c.650G>A(p.Arg217His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,614,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000814.6 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: 0.0000460 AC: 7AN: 152146Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251428Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135888
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727244
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152264Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74438
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 43 Uncertain:2
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SUDDEN INFANT DEATH SYNDROME Uncertain:1
We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has functional evidence supporting pathogenicty, we suspect this variant is favoring pathogenic. -
Insomnia Uncertain:1
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Epilepsy, childhood absence, susceptibility to, 1;C2677087:Epilepsy, childhood absence, susceptibility to, 5 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at