11-637426-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000797.4(DRD4):c.122G>T(p.Gly41Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000779 in 1,526,918 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152020Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000877 AC: 11AN: 125492Hom.: 0 AF XY: 0.0000729 AC XY: 5AN XY: 68570
GnomAD4 exome AF: 0.0000727 AC: 100AN: 1374898Hom.: 0 Cov.: 32 AF XY: 0.0000723 AC XY: 49AN XY: 677800
GnomAD4 genome AF: 0.000125 AC: 19AN: 152020Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.122G>T (p.G41V) alteration is located in exon 1 (coding exon 1) of the DRD4 gene. This alteration results from a G to T substitution at nucleotide position 122, causing the glycine (G) at amino acid position 41 to be replaced by a valine (V). 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