rs374718450
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000815.5(GABRD):c.1146C>A(p.Arg382=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000111 in 1,609,374 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R382R) has been classified as Likely benign.
Frequency
Consequence
NM_000815.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRD | NM_000815.5 | c.1146C>A | p.Arg382= | synonymous_variant | 9/9 | ENST00000378585.7 | |
GABRD | XM_017000936.2 | c.1851C>A | p.Arg617= | synonymous_variant | 8/8 | ||
GABRD | XM_011541194.4 | c.1185C>A | p.Arg395= | synonymous_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRD | ENST00000378585.7 | c.1146C>A | p.Arg382= | synonymous_variant | 9/9 | 1 | NM_000815.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000573 AC: 14AN: 244360Hom.: 0 AF XY: 0.0000451 AC XY: 6AN XY: 133156
GnomAD4 exome AF: 0.000119 AC: 174AN: 1457116Hom.: 0 Cov.: 32 AF XY: 0.000126 AC XY: 91AN XY: 724766
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74386
ClinVar
Submissions by phenotype
Idiopathic generalized epilepsy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 08, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at