4-9782361-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000798.5(DRD5):c.332C>T(p.Ala111Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,613,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A111E) has been classified as Uncertain significance.
Frequency
Consequence
NM_000798.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRD5 | ENST00000304374.4 | c.332C>T | p.Ala111Val | missense_variant | Exon 1 of 1 | 6 | NM_000798.5 | ENSP00000306129.2 | ||
SLC2A9 | ENST00000503803.5 | n.386-2296G>A | intron_variant | Intron 3 of 3 | 3 | |||||
SLC2A9 | ENST00000508585.5 | n.182-10992G>A | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251030Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135700
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461660Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727140
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at