5-162102565-A-G
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_198903.2(GABRG2):c.643A>G(p.Ile215Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.817 in 454,032 control chromosomes in the GnomAD database, including 151,858 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I215L) has been classified as Uncertain significance.
Frequency
Consequence
NM_198903.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.822 AC: 124892AN: 151948Hom.: 51453 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.823 AC: 105667AN: 128346 AF XY: 0.820 show subpopulations
GnomAD4 exome AF: 0.814 AC: 245848AN: 301962Hom.: 100373 Cov.: 0 AF XY: 0.814 AC XY: 140140AN XY: 172066 show subpopulations
GnomAD4 genome AF: 0.822 AC: 124981AN: 152070Hom.: 51485 Cov.: 31 AF XY: 0.824 AC XY: 61274AN XY: 74324 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 89% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 83. Only high quality variants are reported. -
Developmental and epileptic encephalopathy, 74 Benign:1
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EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at