rs6277
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000795.4(DRD2):c.957C>T(p.Pro319Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.488 in 1,613,936 control chromosomes in the GnomAD database, including 206,505 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000795.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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DRD2 | NM_000795.4 | c.957C>T | p.Pro319Pro | synonymous_variant | Exon 7 of 8 | ENST00000362072.8 | NP_000786.1 | |
DRD2 | NM_016574.4 | c.870C>T | p.Pro290Pro | synonymous_variant | Exon 6 of 7 | NP_057658.2 | ||
DRD2 | XM_017017296.3 | c.957C>T | p.Pro319Pro | synonymous_variant | Exon 7 of 8 | XP_016872785.1 | ||
DRD2 | XM_047426511.1 | c.870C>T | p.Pro290Pro | synonymous_variant | Exon 6 of 7 | XP_047282467.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.376 AC: 57167AN: 151962Hom.: 13534 Cov.: 32
GnomAD3 exomes AF: 0.411 AC: 103247AN: 251142Hom.: 24917 AF XY: 0.426 AC XY: 57805AN XY: 135740
GnomAD4 exome AF: 0.499 AC: 730118AN: 1461856Hom.: 192984 Cov.: 93 AF XY: 0.498 AC XY: 362363AN XY: 727230
GnomAD4 genome AF: 0.376 AC: 57143AN: 152080Hom.: 13521 Cov.: 32 AF XY: 0.368 AC XY: 27371AN XY: 74356
ClinVar
Submissions by phenotype
not specified Benign:3
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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. -
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not provided Benign:1
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Dystonic disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at