rs4426564
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000682.7(ADRA2B):āc.912G>Cā(p.Glu304Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000128 in 1,558,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000682.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRA2B | NM_000682.7 | c.912G>C | p.Glu304Asp | missense_variant | 1/1 | ENST00000620793.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRA2B | ENST00000620793.2 | c.912G>C | p.Glu304Asp | missense_variant | 1/1 | NM_000682.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151810Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1406106Hom.: 0 Cov.: 75 AF XY: 0.00 AC XY: 0AN XY: 694228
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151928Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.