4-9782245-C-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_000798.5(DRD5):c.216C>A(p.Arg72Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R72R) has been classified as Likely benign.
Frequency
Consequence
NM_000798.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRD5 | ENST00000304374.4 | c.216C>A | p.Arg72Arg | synonymous_variant | Exon 1 of 1 | 6 | NM_000798.5 | ENSP00000306129.2 | ||
SLC2A9 | ENST00000503803.5 | n.386-2180G>T | intron_variant | Intron 3 of 3 | 3 | |||||
SLC2A9 | ENST00000508585.5 | n.182-10876G>T | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152266Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250580Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135524
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461176Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726896
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152266Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at