rs2234690

chr11-113421026-T-Achr11-113421026-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_000795.4(DRD2):c.286-2890A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.44 in 151,994 control chromosomes in the GnomAD database, including 17,380 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 0.44 (17380 hom., cov: 32)
• Consequence: DRD2 NM_000795.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.483

Genes affected

DRD2 (HGNC:3023): (dopamine receptor D2) This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.597 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DRD2	NM_000795.4	c.286-2890A>T		intron_variant		ENST00000362072.8
DRD2	NM_016574.4	c.286-2890A>T		intron_variant
DRD2	XM_017017296.3	c.286-2890A>T		intron_variant
DRD2	XM_047426511.1	c.286-2890A>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DRD2	ENST00000362072.8	c.286-2890A>T		intron_variant		1	NM_000795.4	P4

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66851 AN: 151876 Hom.: 17391 Cov.: 32

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.709

Gnomad AMR AF: 0.395

Gnomad ASJ AF: 0.643

Gnomad EAS AF: 0.0587

Gnomad SAS AF: 0.365

Gnomad FIN AF: 0.475

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.602

Gnomad OTH AF: 0.501

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.440 AC: 66845 AN: 151994 Hom.: 17380 Cov.: 32 AF XY: 0.430 AC XY: 31916 AN XY: 74268

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.394

Gnomad4 ASJ AF: 0.643

Gnomad4 EAS AF: 0.0582

Gnomad4 SAS AF: 0.365

Gnomad4 FIN AF: 0.475

Gnomad4 NFE AF: 0.602

Gnomad4 OTH AF: 0.498

Alfa AF: 0.514 Hom.: 2733

Bravo AF: 0.426

Asia WGS AF: 0.207 AC: 722 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
Cadd	Benign	4.1
Dann	Benign	0.78

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

Other links and lift over

dbSNP: rs2234690; hg19: chr11-113291748;