rs2075652

chr11-113424176-G-A

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_000795.4(DRD2):c.285+191C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0456 in 152,286 control chromosomes in the GnomAD database, including 596 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.046 (596 hom., cov: 33)
• Consequence: DRD2 NM_000795.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.224

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 -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BP6: Variant 11-113424176-G-A is Benign according to our data. Variant chr11-113424176-G-A is described in ClinVar as [Benign]. Clinvar id is 1274192.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DRD2	NM_000795.4	c.285+191C>T		intron_variant		ENST00000362072.8
DRD2	NM_016574.4	c.285+191C>T		intron_variant
DRD2	XM_017017296.3	c.285+191C>T		intron_variant
DRD2	XM_047426511.1	c.285+191C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DRD2	ENST00000362072.8	c.285+191C>T		intron_variant		1	NM_000795.4	P4

Frequencies

GnomAD3 genomes AF: 0.0456 AC: 6938 AN: 152168 Hom.: 597 Cov.: 33

Gnomad AFR AF: 0.0457

Gnomad AMI AF: 0.00549

Gnomad AMR AF: 0.0706

Gnomad ASJ AF: 0.0144

Gnomad EAS AF: 0.387

Gnomad SAS AF: 0.0294

Gnomad FIN AF: 0.131

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00432

Gnomad OTH AF: 0.0359

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

GnomAD4 genome AF: 0.0456 AC: 6943 AN: 152286 Hom.: 596 Cov.: 33 AF XY: 0.0542 AC XY: 4033 AN XY: 74468

Gnomad4 AFR AF: 0.0458

Gnomad4 AMR AF: 0.0707

Gnomad4 ASJ AF: 0.0144

Gnomad4 EAS AF: 0.387

Gnomad4 SAS AF: 0.0284

Gnomad4 FIN AF: 0.131

Gnomad4 NFE AF: 0.00432

Gnomad4 OTH AF: 0.0364

Alfa AF: 0.0153 Hom.: 19

Bravo AF: 0.0430

Asia WGS AF: 0.163 AC: 566 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 19, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	0.48
Dann	Benign	0.71

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: rs2075652; hg19: chr11-113294898;