rs2484516
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000681.4(ADRA2A):c.-682G>A variant causes a 5 prime UTR 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.
Frequency
Genomes: not found (cov: 35)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ADRA2A
NM_000681.4 5_prime_UTR
NM_000681.4 5_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.03
Publications
10 publications found
Genes affected
ADRA2A (HGNC:281): (adrenoceptor alpha 2A) Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]
ADRA2A Gene-Disease associations (from GenCC):
- lipodystrophyInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
- lipodystrophy, familial partial, type 8Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.42).
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
35
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 652Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 438
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
652
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
438
African (AFR)
AF:
AC:
0
AN:
10
American (AMR)
AF:
AC:
0
AN:
2
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
6
East Asian (EAS)
AF:
AC:
0
AN:
22
South Asian (SAS)
AF:
AC:
0
AN:
102
European-Finnish (FIN)
AF:
AC:
0
AN:
8
Middle Eastern (MID)
AF:
AC:
0
AN:
4
European-Non Finnish (NFE)
AF:
AC:
0
AN:
472
Other (OTH)
AF:
AC:
0
AN:
26
GnomAD4 genome
GnomAD4 genome
Cov.:
35
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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