rs61767072
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Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM4BP6BA1
The NM_000683.4(ADRA2C):c.971_982del(p.Gly324_Ala327del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0809 in 1,097,418 control chromosomes in the GnomAD database, including 7,623 homozygotes. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Genomes: 𝑓 0.16 ( 3700 hom., cov: 30)
Exomes 𝑓: 0.069 ( 3923 hom. )
Consequence
ADRA2C
NM_000683.4 inframe_deletion
NM_000683.4 inframe_deletion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.45
Genes affected
ADRA2C (HGNC:283): (adrenoceptor alpha 2C) Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -7 ACMG points.
PM4
?
Nonframeshift variant in NON repetitive region in NM_000683.4.
BP6
?
Variant 4-3767568-AGGGGGCGGGGCC-A is Benign according to our data. Variant chr4-3767568-AGGGGGCGGGGCC-A is described in ClinVar as [Benign]. Clinvar id is 18160.Status of the report is no_assertion_criteria_provided, 0 stars.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.403 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRA2C | NM_000683.4 | c.971_982del | p.Gly324_Ala327del | inframe_deletion | 1/1 | ENST00000330055.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRA2C | ENST00000330055.7 | c.971_982del | p.Gly324_Ala327del | inframe_deletion | 1/1 | NM_000683.4 | P1 | ||
ADRA2C | ENST00000509482.1 | c.971_982del | p.Gly324_Ala327del | inframe_deletion | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.157 AC: 23104AN: 146708Hom.: 3683 Cov.: 30
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GnomAD3 exomes AF: 0.122 AC: 21AN: 172Hom.: 1 AF XY: 0.130 AC XY: 14AN XY: 108
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GnomAD4 exome AF: 0.0691 AC: 65644AN: 950608Hom.: 3923 AF XY: 0.0693 AC XY: 31127AN XY: 449120
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GnomAD4 genome ? AF: 0.158 AC: 23153AN: 146810Hom.: 3700 Cov.: 30 AF XY: 0.155 AC XY: 11106AN XY: 71550
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
RECLASSIFIED - ADRB1 POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at