rs587776842
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The ENST00000176183.6(DRD4):c.235_247del(p.Ala79SerfsTer21) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0124 in 1,564,018 control chromosomes in the GnomAD database, including 170 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A78A) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
ENST00000176183.6 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRD4 | NM_000797.4 | c.235_247del | p.Ala79SerfsTer21 | frameshift_variant | 1/4 | ENST00000176183.6 | NP_000788.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRD4 | ENST00000176183.6 | c.235_247del | p.Ala79SerfsTer21 | frameshift_variant | 1/4 | 1 | NM_000797.4 | ENSP00000176183 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0102 AC: 1545AN: 152146Hom.: 17 Cov.: 32
GnomAD3 exomes AF: 0.00771 AC: 1319AN: 171114Hom.: 14 AF XY: 0.00756 AC XY: 701AN XY: 92706
GnomAD4 exome AF: 0.0126 AC: 17828AN: 1411754Hom.: 153 AF XY: 0.0123 AC XY: 8616AN XY: 698834
GnomAD4 genome AF: 0.0101 AC: 1545AN: 152264Hom.: 17 Cov.: 32 AF XY: 0.0109 AC XY: 809AN XY: 74456
ClinVar
Submissions by phenotype
Autonomic nervous system dysfunction Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 01, 1994 | - - |
not specified Benign:1
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
not provided Benign:1
Likely benign, no assertion criteria provided | clinical testing | Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at