rs7117915
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000795.4(DRD2):c.-32+12373C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 152,234 control chromosomes in the GnomAD database, including 2,485 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 0.17 ( 2485 hom., cov: 33)
Consequence
DRD2
NM_000795.4 intron
NM_000795.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.212
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 -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.377 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.-32+12373C>T | intron_variant | ENST00000362072.8 | |||
DRD2 | NM_016574.4 | c.-32+12373C>T | intron_variant | ||||
DRD2 | XM_017017296.3 | c.-32+11527C>T | intron_variant | ||||
DRD2 | XM_047426511.1 | c.-32+11527C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000362072.8 | c.-32+12373C>T | intron_variant | 1 | NM_000795.4 | P4 | |||
DRD2 | ENST00000346454.7 | c.-32+12373C>T | intron_variant | 1 | |||||
DRD2 | ENST00000540600.5 | n.34+12955C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
DRD2 | ENST00000542616.1 | c.-32+11527C>T | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.167 AC: 25371AN: 152116Hom.: 2475 Cov.: 33
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.167 AC: 25415AN: 152234Hom.: 2485 Cov.: 33 AF XY: 0.174 AC XY: 12947AN XY: 74422
GnomAD4 genome
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12947
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951
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
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