rs1555220951
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006231.4(POLE):c.6134C>T(p.Pro2045Leu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006231.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLE | NM_006231.4 | c.6134C>T | p.Pro2045Leu | missense_variant, splice_region_variant | 44/49 | ENST00000320574.10 | NP_006222.2 | |
POLE | XM_011534795.4 | c.6134C>T | p.Pro2045Leu | missense_variant, splice_region_variant | 44/48 | XP_011533097.1 | ||
POLE | XM_011534797.4 | c.5213C>T | p.Pro1738Leu | missense_variant, splice_region_variant | 36/40 | XP_011533099.1 | ||
POLE | XM_011534802.4 | c.3122C>T | p.Pro1041Leu | missense_variant, splice_region_variant | 20/24 | XP_011533104.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLE | ENST00000320574.10 | c.6134C>T | p.Pro2045Leu | missense_variant, splice_region_variant | 44/49 | 1 | NM_006231.4 | ENSP00000322570.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
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.