rs755312623
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP2PP3
The NM_018082.6(POLR3B):c.1988C>G(p.Thr663Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,716 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. T663I) has been classified as Likely pathogenic.
Frequency
Consequence
NM_018082.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3B | NM_018082.6 | c.1988C>G | p.Thr663Ser | missense_variant | 19/28 | ENST00000228347.9 | |
POLR3B | NM_001160708.2 | c.1814C>G | p.Thr605Ser | missense_variant | 19/28 | ||
POLR3B | XM_017019621.3 | c.1988C>G | p.Thr663Ser | missense_variant | 19/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3B | ENST00000228347.9 | c.1988C>G | p.Thr663Ser | missense_variant | 19/28 | 1 | NM_018082.6 | P1 | |
POLR3B | ENST00000539066.5 | c.1814C>G | p.Thr605Ser | missense_variant | 19/28 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461716Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727186
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.