3-114156212-A-G

Variant summary

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

The NM_000796.6(DRD3):​c.383+3543T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.923 in 152,290 control chromosomes in the GnomAD database, including 64,940 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 0.92 ( 64940 hom., cov: 32)

Consequence

DRD3
NM_000796.6 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00900
Variant links:
Genes affected
DRD3 (HGNC:3024): (dopamine receptor D3) This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.935 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
DRD3NM_000796.6 linkc.383+3543T>C intron_variant Intron 3 of 6 ENST00000383673.5 NP_000787.2 P35462-1X5D2G4A8K8E4
DRD3NM_001282563.2 linkc.383+3543T>C intron_variant Intron 4 of 7 NP_001269492.1 P35462-1X5D2G4A8K8E4
DRD3NM_001290809.1 linkc.383+3543T>C intron_variant Intron 4 of 7 NP_001277738.1 P35462-1X5D2G4A8K8E4A1A4V4
DRD3NM_033663.6 linkc.383+3543T>C intron_variant Intron 3 of 7 NP_387512.3 P35462-3E9PCM4A8K8E4

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DRD3ENST00000383673.5 linkc.383+3543T>C intron_variant Intron 3 of 6 1 NM_000796.6 ENSP00000373169.2 P35462-1

Frequencies

GnomAD3 genomes
AF:
0.923
AC:
140460
AN:
152172
Hom.:
64915
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.887
Gnomad AMI
AF:
0.862
Gnomad AMR
AF:
0.919
Gnomad ASJ
AF:
0.971
Gnomad EAS
AF:
0.896
Gnomad SAS
AF:
0.930
Gnomad FIN
AF:
0.955
Gnomad MID
AF:
0.915
Gnomad NFE
AF:
0.941
Gnomad OTH
AF:
0.925
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.923
AC:
140538
AN:
152290
Hom.:
64940
Cov.:
32
AF XY:
0.923
AC XY:
68768
AN XY:
74472
show subpopulations
Gnomad4 AFR
AF:
0.886
Gnomad4 AMR
AF:
0.918
Gnomad4 ASJ
AF:
0.971
Gnomad4 EAS
AF:
0.896
Gnomad4 SAS
AF:
0.931
Gnomad4 FIN
AF:
0.955
Gnomad4 NFE
AF:
0.941
Gnomad4 OTH
AF:
0.922
Alfa
AF:
0.937
Hom.:
29856
Bravo
AF:
0.918
Asia WGS
AF:
0.918
AC:
3193
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.98
CADD
Benign
1.8
DANN
Benign
0.73

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: rs2630351; hg19: chr3-113875059; API