rs80030508
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The NM_000795.4(DRD2):c.153C>A(p.Gly51=) variant causes a synonymous change. The variant allele was found at a frequency of 0.000838 in 1,614,236 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.00059 ( 0 hom., cov: 33)
Exomes 𝑓: 0.00086 ( 1 hom. )
Consequence
DRD2
NM_000795.4 synonymous
NM_000795.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 4.88
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.46).
BP6
?
Variant 11-113424499-G-T is Benign according to our data. Variant chr11-113424499-G-T is described in ClinVar as [Likely_benign]. Clinvar id is 526229.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS2
?
High AC in GnomAd4 at 90 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.153C>A | p.Gly51= | synonymous_variant | 2/8 | ENST00000362072.8 | |
DRD2 | NM_016574.4 | c.153C>A | p.Gly51= | synonymous_variant | 2/7 | ||
DRD2 | XM_017017296.3 | c.153C>A | p.Gly51= | synonymous_variant | 2/8 | ||
DRD2 | XM_047426511.1 | c.153C>A | p.Gly51= | synonymous_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000362072.8 | c.153C>A | p.Gly51= | synonymous_variant | 2/8 | 1 | NM_000795.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000591 AC: 90AN: 152226Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.000672 AC: 169AN: 251454Hom.: 1 AF XY: 0.000706 AC XY: 96AN XY: 135908
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GnomAD4 exome AF: 0.000863 AC: 1262AN: 1461892Hom.: 1 Cov.: 31 AF XY: 0.000898 AC XY: 653AN XY: 727246
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GnomAD4 genome ? AF: 0.000591 AC: 90AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.000617 AC XY: 46AN XY: 74512
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | DRD2: BP4, BP7 - |
Dystonic disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at