3-114159748-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000796.6(DRD3):c.383+7C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000208 in 1,612,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000796.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRD3 | NM_000796.6 | c.383+7C>T | splice_region_variant, intron_variant | ENST00000383673.5 | |||
DRD3 | NM_001282563.2 | c.383+7C>T | splice_region_variant, intron_variant | ||||
DRD3 | NM_001290809.1 | c.383+7C>T | splice_region_variant, intron_variant | ||||
DRD3 | NM_033663.6 | c.383+7C>T | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD3 | ENST00000383673.5 | c.383+7C>T | splice_region_variant, intron_variant | 1 | NM_000796.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152202Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000916 AC: 23AN: 251180Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135746
GnomAD4 exome AF: 0.000216 AC: 316AN: 1460414Hom.: 0 Cov.: 30 AF XY: 0.000201 AC XY: 146AN XY: 726616
GnomAD4 genome AF: 0.000125 AC: 19AN: 152202Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74358
ClinVar
Submissions by phenotype
Hereditary essential tremor Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at