chr8-22245487-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001722.3(POLR3D):āc.38C>Gā(p.Pro13Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000953 in 1,154,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001722.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3D | NM_001722.3 | c.38C>G | p.Pro13Arg | missense_variant | 2/9 | ENST00000306433.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3D | ENST00000306433.9 | c.38C>G | p.Pro13Arg | missense_variant | 2/9 | 1 | NM_001722.3 | P1 | |
POLR3D | ENST00000397802.8 | c.38C>G | p.Pro13Arg | missense_variant | 1/8 | 1 | P1 | ||
POLR3D | ENST00000519237.5 | c.38C>G | p.Pro13Arg | missense_variant | 2/6 | 3 | |||
POLR3D | ENST00000518039.1 | c.38C>G | p.Pro13Arg | missense_variant, NMD_transcript_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000953 AC: 11AN: 1154160Hom.: 0 Cov.: 30 AF XY: 0.0000127 AC XY: 7AN XY: 552198
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2022 | The c.38C>G (p.P13R) alteration is located in exon 2 (coding exon 1) of the POLR3D gene. This alteration results from a C to G substitution at nucleotide position 38, causing the proline (P) at amino acid position 13 to be replaced by an arginine (R). 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
Publications
No publications associated with this variant yet.