rs6290
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The ENST00000295454.8(GABRB1):āc.975C>Gā(p.Ala325=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A325A) has been classified as Benign.
Frequency
Consequence
ENST00000295454.8 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRB1 | NM_000812.4 | c.975C>G | p.Ala325= | synonymous_variant | 8/9 | ENST00000295454.8 | NP_000803.2 | |
GABRB1 | XM_024453976.2 | c.876C>G | p.Ala292= | synonymous_variant | 8/9 | XP_024309744.1 | ||
GABRB1 | XM_024453977.2 | c.876C>G | p.Ala292= | synonymous_variant | 9/10 | XP_024309745.1 | ||
GABRB1 | XM_017007985.2 | c.324C>G | p.Ala108= | synonymous_variant | 4/5 | XP_016863474.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GABRB1 | ENST00000295454.8 | c.975C>G | p.Ala325= | synonymous_variant | 8/9 | 1 | NM_000812.4 | ENSP00000295454 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251382Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135846
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461872Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727232
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at