rs759392289
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP2BP4_StrongBP6_ModerateBS2
The NM_198904.4(GABRG2):āc.17T>Cā(p.Ile6Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000869 in 1,611,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_198904.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRG2 | NM_198904.4 | c.17T>C | p.Ile6Thr | missense_variant | 1/10 | ENST00000639213.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRG2 | ENST00000639213.2 | c.17T>C | p.Ile6Thr | missense_variant | 1/10 | 1 | NM_198904.4 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000662 AC: 1AN: 151114Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251042Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135646
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460586Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 726670
GnomAD4 genome ? AF: 0.00000662 AC: 1AN: 151114Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73724
ClinVar
Submissions by phenotype
Epilepsy, childhood absence 2;C1969810:Febrile seizures, familial, 8 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 04, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at