Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000795.4(DRD2):c.957C>T(p.Pro319=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.376 in 151962 control chromosomes in the gnomAD Genomes database, including 13534 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Verdict is Benign. Variant got -21 ACMG points.
GnomAD3 genomes AF: 0.376AC: 57167AN: 151962Hom.: 13534Cov.: 32 GnomAD3 exomes AF: 0.411AC: 103247AN: 251142Hom.: 24917 AF XY: 0.426AC XY: 57805AN XY: 135740 GnomAD4 exome AF: 0.499AC: 730118AN: 1461856Hom.: 192984 AF XY: 0.498AC XY: 362363AN XY: 727230
Submissions by phenotype
|Likely benign, criteria provided, single submitter||clinical testing||GeneDx||Mar 09, 2018||This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -|
|Benign, criteria provided, single submitter||clinical testing||PreventionGenetics, PreventionGenetics||-||- -|
|Benign, criteria provided, single submitter||clinical testing||Eurofins Ntd Llc (ga)||May 21, 2015||- -|
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 04, 2022||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at