8-22245499-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001722.3(POLR3D):c.50G>A(p.Arg17Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000809 in 1,297,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R17L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001722.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3D | NM_001722.3 | c.50G>A | p.Arg17Gln | missense_variant | 2/9 | ENST00000306433.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3D | ENST00000306433.9 | c.50G>A | p.Arg17Gln | missense_variant | 2/9 | 1 | NM_001722.3 | P1 | |
POLR3D | ENST00000397802.8 | c.50G>A | p.Arg17Gln | missense_variant | 1/8 | 1 | P1 | ||
POLR3D | ENST00000519237.5 | c.50G>A | p.Arg17Gln | missense_variant | 2/6 | 3 | |||
POLR3D | ENST00000518039.1 | c.50G>A | p.Arg17Gln | missense_variant, NMD_transcript_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000489 AC: 4AN: 81820Hom.: 0 AF XY: 0.0000219 AC XY: 1AN XY: 45638
GnomAD4 exome AF: 0.0000838 AC: 96AN: 1145722Hom.: 0 Cov.: 31 AF XY: 0.0000859 AC XY: 47AN XY: 547006
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2022 | The c.50G>A (p.R17Q) alteration is located in exon 2 (coding exon 1) of the POLR3D gene. This alteration results from a G to A substitution at nucleotide position 50, causing the arginine (R) at amino acid position 17 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at