rs2734838

Positions:

• chr11-113415779-A-G
• chr11-113415779-A-T

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.533-168T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.439 in 152,084 control chromosomes in the GnomAD database, including 17,348 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.44 (17348 hom., cov: 32)
• Consequence: DRD2 NM_000795.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.202

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=-0.91).
• BP6: Variant 11-113415779-A-G is Benign according to our data. Variant chr11-113415779-A-G is described in ClinVar as [Benign]. Clinvar id is 1250420.Status of the report is criteria_provided_single_submitter, 1 stars.
• 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	Protein	UniProt
DRD2	NM_000795.4	c.533-168T>C		intron_variant		ENST00000362072.8	NP_000786.1
DRD2	NM_016574.4	c.533-168T>C		intron_variant			NP_057658.2
DRD2	XM_017017296.3	c.533-168T>C		intron_variant			XP_016872785.1
DRD2	XM_047426511.1	c.533-168T>C		intron_variant			XP_047282467.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DRD2	ENST00000362072.8	c.533-168T>C		intron_variant		1	NM_000795.4	ENSP00000354859	P4

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66793 AN: 151966 Hom.: 17359 Cov.: 32

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.709

Gnomad AMR AF: 0.393

Gnomad ASJ AF: 0.643

Gnomad EAS AF: 0.0588

Gnomad SAS AF: 0.364

Gnomad FIN AF: 0.476

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.601

Gnomad OTH AF: 0.501

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

GnomAD4 genome AF: 0.439 AC: 66787 AN: 152084 Hom.: 17348 Cov.: 32 AF XY: 0.429 AC XY: 31888 AN XY: 74324

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.392

Gnomad4 ASJ AF: 0.643

Gnomad4 EAS AF: 0.0583

Gnomad4 SAS AF: 0.364

Gnomad4 FIN AF: 0.476

Gnomad4 NFE AF: 0.601

Gnomad4 OTH AF: 0.497

Alfa AF: 0.585 Hom.: 33951

Bravo AF: 0.426

Asia WGS AF: 0.206 AC: 717 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 18, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.020
DANN	Benign	0.22

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: rs2734838; hg19: chr11-113286501;