ENST00000354550.4:c.*184C>A

Variant names:

• chr8-26765867-G-T
• rs3802241
• ENST00000354550.4:c.*184C>A

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000354550.4(ADRA1A):​c.*184C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000798 in 1,253,732 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 33)
  • Exomes 𝑓: 8.0e-7 (0 hom.)
• Consequence: ADRA1A ENST00000354550.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.04
• Publications: 0 publications found

Genes affected

ADRA1A (HGNC:277): (adrenoceptor alpha 1A) Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000354550.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADRA1A	NM_033304.3		c.*184C>A		3_prime_UTR	Exon 3 of 3	NP_150647.2	P35348-4
	ADRA1A	NM_033303.4		c.1269+4414C>A		intron	N/A	NP_150646.3	B0ZBD3
	ADRA1A	NM_033302.3		c.1269+4414C>A		intron	N/A	NP_150645.2	P35348-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADRA1A	ENST00000354550.4	TSL:1	c.*184C>A		3_prime_UTR	Exon 3 of 3	ENSP00000346557.4	P35348-4
	ADRA1A	ENST00000380586.5	TSL:1	c.1269+4414C>A		intron	N/A	ENSP00000369960.1	P35348-2
	ADRA1A	ENST00000380582.7	TSL:1	c.1269+4414C>A		intron	N/A	ENSP00000369956.3	P35348-3

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 7.98e-7 AC: 1 AN: 1253732 Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0 AN XY: 604824

African (AFR) AF: 0.00 AC: 0 AN: 27822

American (AMR) AF: 0.00 AC: 0 AN: 19184

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 18080

East Asian (EAS) AF: 0.00 AC: 0 AN: 33974

South Asian (SAS) AF: 0.00 AC: 0 AN: 53742

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 29404

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3720

European-Non Finnish (NFE) AF: 9.85e-7 AC: 1 AN: 1015728

Other (OTH) AF: 0.00 AC: 0 AN: 52078

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	12
DANN	Benign	0.68
PhyloP100		1.0

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs3802241;

hg19: chr8-26623384;