12-132635933-C-A
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_006231.4(POLE):c.5770G>T(p.Gly1924*) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_006231.4 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLE | NM_006231.4 | c.5770G>T | p.Gly1924* | stop_gained | Exon 42 of 49 | ENST00000320574.10 | NP_006222.2 | |
POLE | XM_011534795.4 | c.5770G>T | p.Gly1924* | stop_gained | Exon 42 of 48 | XP_011533097.1 | ||
POLE | XM_011534797.4 | c.4849G>T | p.Gly1617* | stop_gained | Exon 34 of 40 | XP_011533099.1 | ||
POLE | XM_011534802.4 | c.2758G>T | p.Gly920* | stop_gained | Exon 18 of 24 | XP_011533104.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
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.