11-637536-GCCGCCGACCTCCT-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_000797.4(DRD4):c.235_247delGCCGACCTCCTCC(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 Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.010 ( 17 hom., cov: 32)
Exomes 𝑓: 0.013 ( 153 hom. )
Consequence
DRD4
NM_000797.4 frameshift
NM_000797.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 7.73
Genes affected
DRD4 (HGNC:3025): (dopamine receptor D4) This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP6
Variant 11-637536-GCCGCCGACCTCCT-G is Benign according to our data. Variant chr11-637536-GCCGCCGACCTCCT-G is described in ClinVar as [Benign]. Clinvar id is 16767.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr11-637536-GCCGCCGACCTCCT-G is described in Lovd as [Benign]. Variant chr11-637536-GCCGCCGACCTCCT-G is described in Lovd as [Likely_benign].
BS2
High AC in GnomAd4 at 1545 AD gene.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0102 AC: 1545AN: 152146Hom.: 17 Cov.: 32
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GnomAD3 exomes AF: 0.00771 AC: 1319AN: 171114Hom.: 14 AF XY: 0.00756 AC XY: 701AN XY: 92706
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GnomAD4 exome AF: 0.0126 AC: 17828AN: 1411754Hom.: 153 AF XY: 0.0123 AC XY: 8616AN XY: 698834
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GnomAD4 genome AF: 0.0101 AC: 1545AN: 152264Hom.: 17 Cov.: 32 AF XY: 0.0109 AC XY: 809AN XY: 74456
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ClinVar
Significance: Benign
Submissions summary: Pathogenic:1Benign:3
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:2
-
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Significance: Likely benign
Review Status: no assertion criteria provided
Collection Method: clinical testing
- -
Jan 01, 2025
CeGaT Center for Human Genetics Tuebingen
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
DRD4: BS1, BS2 -
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION Pathogenic:1
Dec 01, 1994
OMIM
Significance: Pathogenic
Review Status: no assertion criteria provided
Collection Method: literature only
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not specified Benign:1
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Significance: Benign
Review Status: no assertion criteria provided
Collection Method: clinical testing
- -
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at