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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N266D) has been classified as Uncertain significance.
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 | UniProt |
---|---|---|---|---|---|---|---|
ADRA2A | NM_000681.4 | c.798C>G | p.Asn266Lys | missense_variant | 1/1 | ENST00000280155.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRA2A | ENST00000280155.4 | c.798C>G | p.Asn266Lys | missense_variant | 1/1 | NM_000681.4 | P1 |
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