rs758683320
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000362072.8(DRD2):c.1228G>T(p.Ala410Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,880 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A410T) has been classified as Benign.
Frequency
Consequence
ENST00000362072.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.1228G>T | p.Ala410Ser | missense_variant | 8/8 | ENST00000362072.8 | NP_000786.1 | |
DRD2 | NM_016574.4 | c.1141G>T | p.Ala381Ser | missense_variant | 7/7 | NP_057658.2 | ||
DRD2 | XM_017017296.3 | c.1228G>T | p.Ala410Ser | missense_variant | 8/8 | XP_016872785.1 | ||
DRD2 | XM_047426511.1 | c.1141G>T | p.Ala381Ser | missense_variant | 7/7 | XP_047282467.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000362072.8 | c.1228G>T | p.Ala410Ser | missense_variant | 8/8 | 1 | NM_000795.4 | ENSP00000354859 | P4 | |
ENST00000546284.1 | n.245-716C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250908Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135674
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461880Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727242
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at