rs146562378
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_000797.4(DRD4):c.232G>A(p.Ala78Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000398 in 1,564,100 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_000797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00210 AC: 319AN: 152148Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000497 AC: 85AN: 171114Hom.: 0 AF XY: 0.000334 AC XY: 31AN XY: 92706
GnomAD4 exome AF: 0.000215 AC: 303AN: 1411834Hom.: 2 Cov.: 32 AF XY: 0.000205 AC XY: 143AN XY: 698878
GnomAD4 genome AF: 0.00210 AC: 320AN: 152266Hom.: 1 Cov.: 33 AF XY: 0.00208 AC XY: 155AN XY: 74458
ClinVar
Submissions by phenotype
DRD4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at