rs74548208
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_000795.4(DRD2):c.870C>T(p.Pro290=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000353 in 1,613,252 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P290P) has been classified as Benign.
Frequency
Consequence
NM_000795.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.870C>T | p.Pro290= | synonymous_variant | 7/8 | ENST00000362072.8 | |
DRD2 | NM_016574.4 | c.783C>T | p.Pro261= | synonymous_variant | 6/7 | ||
DRD2 | XM_017017296.3 | c.870C>T | p.Pro290= | synonymous_variant | 7/8 | ||
DRD2 | XM_047426511.1 | c.783C>T | p.Pro261= | synonymous_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000362072.8 | c.870C>T | p.Pro290= | synonymous_variant | 7/8 | 1 | NM_000795.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000520 AC: 13AN: 249764Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135024
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461042Hom.: 0 Cov.: 36 AF XY: 0.0000289 AC XY: 21AN XY: 726756
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74420
ClinVar
Submissions by phenotype
Dystonic disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 20, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at