2-96115238-C-CTCCTCT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate

The NM_000682.7(ADRA2B):​c.911_912insAGAGGA​(p.Glu303_Glu304dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: not found (cov: 22)

Consequence

ADRA2B
NM_000682.7 disruptive_inframe_insertion

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 1.54
Variant links:
Genes affected
ADRA2B (HGNC:282): (adrenoceptor alpha 2B) This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 2-96115238-C-CTCCTCT is Benign according to our data. Variant chr2-96115238-C-CTCCTCT is described in ClinVar as [Likely_benign]. Clinvar id is 706992.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ADRA2BNM_000682.7 linkc.911_912insAGAGGA p.Glu303_Glu304dup disruptive_inframe_insertion 1/1 ENST00000620793.2 NP_000673.2 P18089

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ADRA2BENST00000620793.2 linkc.911_912insAGAGGA p.Glu303_Glu304dup disruptive_inframe_insertion 1/16 NM_000682.7 ENSP00000480573.1 P18089

Frequencies

GnomAD3 genomes
Cov.:
22
GnomAD4 exome
Cov.:
0
GnomAD4 genome
Cov.:
22

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Likely benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpJul 06, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1573903671; hg19: chr2-96780986; API