11-637462-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000797.4(DRD4):c.158C>G(p.Ser53Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000289 in 1,384,294 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S53L) has been classified as Likely benign.
Frequency
Consequence
NM_000797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000147 AC: 2AN: 136498Hom.: 0 AF XY: 0.0000136 AC XY: 1AN XY: 73626
GnomAD4 exome AF: 0.00000289 AC: 4AN: 1384294Hom.: 0 Cov.: 32 AF XY: 0.00000439 AC XY: 3AN XY: 683284
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.158C>G (p.S53W) alteration is located in exon 1 (coding exon 1) of the DRD4 gene. This alteration results from a C to G substitution at nucleotide position 158, causing the serine (S) at amino acid position 53 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at