rs211014
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_198904.4(GABRG2):c.1128+99C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 1,138,958 control chromosomes in the GnomAD database, including 42,559 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_198904.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.299 AC: 45432AN: 151848Hom.: 7265 Cov.: 32
GnomAD4 exome AF: 0.258 AC: 254810AN: 986992Hom.: 35289 Cov.: 13 AF XY: 0.259 AC XY: 131415AN XY: 506946
GnomAD4 genome AF: 0.299 AC: 45466AN: 151966Hom.: 7270 Cov.: 32 AF XY: 0.301 AC XY: 22378AN XY: 74288
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at