chr8-22249091-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001722.3(POLR3D):c.703C>T(p.Pro235Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,461,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001722.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3D | NM_001722.3 | c.703C>T | p.Pro235Ser | missense_variant | 7/9 | ENST00000306433.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3D | ENST00000306433.9 | c.703C>T | p.Pro235Ser | missense_variant | 7/9 | 1 | NM_001722.3 | P1 | |
POLR3D | ENST00000397802.8 | c.703C>T | p.Pro235Ser | missense_variant | 6/8 | 1 | P1 | ||
POLR3D | ENST00000517789.2 | n.538C>T | non_coding_transcript_exon_variant | 5/6 | 5 | ||||
POLR3D | ENST00000518039.1 | c.*158+442C>T | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250960Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135710
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461798Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727204
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at