rs6279
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000795.4(DRD2):c.*376C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.628 in 426,798 control chromosomes in the GnomAD database, including 87,374 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 0.58 ( 27551 hom., cov: 32)
Exomes 𝑓: 0.65 ( 59823 hom. )
Consequence
DRD2
NM_000795.4 3_prime_UTR
NM_000795.4 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.458
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=-0.85).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.694 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.*376C>G | 3_prime_UTR_variant | 8/8 | ENST00000362072.8 | ||
DRD2 | NM_016574.4 | c.*376C>G | 3_prime_UTR_variant | 7/7 | |||
DRD2 | XM_017017296.3 | c.*376C>G | 3_prime_UTR_variant | 8/8 | |||
DRD2 | XM_047426511.1 | c.*376C>G | 3_prime_UTR_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000362072.8 | c.*376C>G | 3_prime_UTR_variant | 8/8 | 1 | NM_000795.4 | P4 | ||
ENST00000546284.1 | n.245-1196G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.585 AC: 88822AN: 151908Hom.: 27551 Cov.: 32
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GnomAD4 exome AF: 0.652 AC: 179165AN: 274772Hom.: 59823 Cov.: 0 AF XY: 0.651 AC XY: 94070AN XY: 144540
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GnomAD4 genome ? AF: 0.584 AC: 88842AN: 152026Hom.: 27551 Cov.: 32 AF XY: 0.583 AC XY: 43299AN XY: 74306
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ClinVar
Not reported inComputational scores
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Name
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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