11-637526-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_000797.4(DRD4):c.222G>A(p.Val74Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00125 in 1,564,526 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000797.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000572 AC: 87AN: 152068Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000515 AC: 90AN: 174912Hom.: 0 AF XY: 0.000548 AC XY: 52AN XY: 94842
GnomAD4 exome AF: 0.00132 AC: 1870AN: 1412458Hom.: 1 Cov.: 32 AF XY: 0.00131 AC XY: 917AN XY: 699276
GnomAD4 genome AF: 0.000572 AC: 87AN: 152068Hom.: 0 Cov.: 33 AF XY: 0.000471 AC XY: 35AN XY: 74280
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
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