rs12518222

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_000794.5(DRD1):​c.*1593G>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 0.132 in 151,832 control chromosomes in the GnomAD database, including 1,395 homozygotes. 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: 𝑓 0.13 ( 1395 hom., cov: 32)
Failed GnomAD Quality Control

Consequence

DRD1
NM_000794.5 3_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.30
Variant links:
Genes affected
DRD1 (HGNC:3020): (dopamine receptor D1) This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.77).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.234 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
DRD1NM_000794.5 linkuse as main transcriptc.*1593G>A 3_prime_UTR_variant 2/2 ENST00000393752.3

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
DRD1ENST00000393752.3 linkuse as main transcriptc.*1593G>A 3_prime_UTR_variant 2/22 NM_000794.5 P1

Frequencies

GnomAD3 genomes
AF:
0.132
AC:
20053
AN:
151714
Hom.:
1390
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0878
Gnomad AMI
AF:
0.136
Gnomad AMR
AF:
0.112
Gnomad ASJ
AF:
0.141
Gnomad EAS
AF:
0.246
Gnomad SAS
AF:
0.152
Gnomad FIN
AF:
0.180
Gnomad MID
AF:
0.142
Gnomad NFE
AF:
0.146
Gnomad OTH
AF:
0.138
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AC:
0
AN:
0
Hom.:
0
Cov.:
0
AC XY:
0
AN XY:
0
GnomAD4 genome
AF:
0.132
AC:
20056
AN:
151832
Hom.:
1395
Cov.:
32
AF XY:
0.133
AC XY:
9841
AN XY:
74144
show subpopulations
Gnomad4 AFR
AF:
0.0877
Gnomad4 AMR
AF:
0.112
Gnomad4 ASJ
AF:
0.141
Gnomad4 EAS
AF:
0.245
Gnomad4 SAS
AF:
0.151
Gnomad4 FIN
AF:
0.180
Gnomad4 NFE
AF:
0.146
Gnomad4 OTH
AF:
0.144
Alfa
AF:
0.130
Hom.:
238
Bravo
AF:
0.128
Asia WGS
AF:
0.220
AC:
766
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.77
CADD
Benign
13
DANN
Benign
0.72

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs12518222; hg19: chr5-174867169; API