12-132632711-GC-GCCCC
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_006231.4(POLE):c.6088_6089insGGG(p.Gly2029dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,536 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A2030A) has been classified as Likely benign.
Frequency
Consequence
NM_006231.4 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLE | NM_006231.4 | c.6088_6089insGGG | p.Gly2029dup | inframe_insertion | 44/49 | ENST00000320574.10 | |
POLE | XM_011534795.4 | c.6088_6089insGGG | p.Gly2029dup | inframe_insertion | 44/48 | ||
POLE | XM_011534797.4 | c.5167_5168insGGG | p.Gly1722dup | inframe_insertion | 36/40 | ||
POLE | XM_011534802.4 | c.3076_3077insGGG | p.Gly1025dup | inframe_insertion | 20/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLE | ENST00000320574.10 | c.6088_6089insGGG | p.Gly2029dup | inframe_insertion | 44/49 | 1 | NM_006231.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249828Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135396
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461536Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727098
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at