11-637462-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_000797.4(DRD4):c.158C>T(p.Ser53Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000612 in 1,536,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd 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 -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152112Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000659 AC: 9AN: 136498Hom.: 0 AF XY: 0.0000679 AC XY: 5AN XY: 73626
GnomAD4 exome AF: 0.0000563 AC: 78AN: 1384294Hom.: 0 Cov.: 32 AF XY: 0.0000600 AC XY: 41AN XY: 683284
GnomAD4 genome AF: 0.000105 AC: 16AN: 152112Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at