rs1800035
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1BS2_Supporting
The NM_000681.4(ADRA2A):āc.798C>Gā(p.Asn266Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.002 in 1,343,856 control chromosomes in the GnomAD database, including 45 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000681.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADRA2A | NM_000681.4 | c.798C>G | p.Asn266Lys | missense_variant | 1/1 | ENST00000280155.4 | NP_000672.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADRA2A | ENST00000280155.4 | c.798C>G | p.Asn266Lys | missense_variant | 1/1 | 6 | NM_000681.4 | ENSP00000280155.2 |
Frequencies
GnomAD3 genomes AF: 0.0102 AC: 1541AN: 150388Hom.: 26 Cov.: 33
GnomAD3 exomes AF: 0.00194 AC: 30AN: 15456Hom.: 0 AF XY: 0.00187 AC XY: 15AN XY: 8042
GnomAD4 exome AF: 0.000959 AC: 1144AN: 1193358Hom.: 19 Cov.: 31 AF XY: 0.000849 AC XY: 490AN XY: 577486
GnomAD4 genome AF: 0.0102 AC: 1542AN: 150498Hom.: 26 Cov.: 33 AF XY: 0.00979 AC XY: 720AN XY: 73550
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at