4-47406692-A-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000812.4(GABRB1):c.846A>G(p.Thr282Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.297 in 1,613,724 control chromosomes in the GnomAD database, including 74,786 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000812.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRB1 | NM_000812.4 | c.846A>G | p.Thr282Thr | synonymous_variant | Exon 8 of 9 | ENST00000295454.8 | NP_000803.2 | |
GABRB1 | XM_024453976.2 | c.747A>G | p.Thr249Thr | synonymous_variant | Exon 8 of 9 | XP_024309744.1 | ||
GABRB1 | XM_024453977.2 | c.747A>G | p.Thr249Thr | synonymous_variant | Exon 9 of 10 | XP_024309745.1 | ||
GABRB1 | XM_017007985.2 | c.195A>G | p.Thr65Thr | synonymous_variant | Exon 4 of 5 | XP_016863474.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.278 AC: 42252AN: 151994Hom.: 6277 Cov.: 32
GnomAD3 exomes AF: 0.255 AC: 64042AN: 251168Hom.: 9420 AF XY: 0.261 AC XY: 35407AN XY: 135774
GnomAD4 exome AF: 0.299 AC: 436528AN: 1461612Hom.: 68503 Cov.: 39 AF XY: 0.297 AC XY: 216055AN XY: 727110
GnomAD4 genome AF: 0.278 AC: 42284AN: 152112Hom.: 6283 Cov.: 32 AF XY: 0.273 AC XY: 20325AN XY: 74354
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 29% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 27. Only high quality variants are reported. -
Developmental and epileptic encephalopathy, 45 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at