rs6280
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000796.6(DRD3):c.25G>A(p.Gly9Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.642 in 1,496,244 control chromosomes in the GnomAD database, including 316,020 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000796.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRD3 | NM_000796.6 | c.25G>A | p.Gly9Ser | missense_variant | 2/7 | ENST00000383673.5 | NP_000787.2 | |
DRD3 | NM_001282563.2 | c.25G>A | p.Gly9Ser | missense_variant | 3/8 | NP_001269492.1 | ||
DRD3 | NM_001290809.1 | c.25G>A | p.Gly9Ser | missense_variant | 3/8 | NP_001277738.1 | ||
DRD3 | NM_033663.6 | c.25G>A | p.Gly9Ser | missense_variant | 2/8 | NP_387512.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRD3 | ENST00000383673.5 | c.25G>A | p.Gly9Ser | missense_variant | 2/7 | 1 | NM_000796.6 | ENSP00000373169 | P1 |
Frequencies
GnomAD3 genomes AF: 0.547 AC: 83156AN: 151970Hom.: 25266 Cov.: 32
GnomAD3 exomes AF: 0.628 AC: 95572AN: 152300Hom.: 30801 AF XY: 0.634 AC XY: 51824AN XY: 81692
GnomAD4 exome AF: 0.653 AC: 877824AN: 1344156Hom.: 290755 Cov.: 63 AF XY: 0.653 AC XY: 429752AN XY: 658204
GnomAD4 genome AF: 0.547 AC: 83186AN: 152088Hom.: 25265 Cov.: 32 AF XY: 0.547 AC XY: 40624AN XY: 74316
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 09, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
DRD3-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 27, 2024 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Tremor, hereditary essential, 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Mar 06, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
not provided Benign:1
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Schizophrenia, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Mar 06, 2007 | - - |
Essential tremor, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Mar 06, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at