11-113410940-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000795.4(DRD2):c.1139-20G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000375 in 1,598,760 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 (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_000795.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRD2 | NM_000795.4 | c.1139-20G>A | intron_variant | Intron 7 of 7 | ENST00000362072.8 | NP_000786.1 | ||
DRD2 | NM_016574.4 | c.1052-20G>A | intron_variant | Intron 6 of 6 | NP_057658.2 | |||
DRD2 | XM_017017296.3 | c.1139-20G>A | intron_variant | Intron 7 of 7 | XP_016872785.1 | |||
DRD2 | XM_047426511.1 | c.1052-20G>A | intron_variant | Intron 6 of 6 | XP_047282467.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 239782Hom.: 0 AF XY: 0.0000155 AC XY: 2AN XY: 129100
GnomAD4 exome AF: 0.00000277 AC: 4AN: 1446624Hom.: 0 Cov.: 33 AF XY: 0.00000419 AC XY: 3AN XY: 716826
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
Dystonic disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at