12-132638010-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006231.4(POLE):c.5678+4C>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 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 splice_region, intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLE | NM_006231.4 | c.5678+4C>G | splice_region_variant, intron_variant | Intron 41 of 48 | ENST00000320574.10 | NP_006222.2 | ||
POLE | XM_011534795.4 | c.5678+4C>G | splice_region_variant, intron_variant | Intron 41 of 47 | XP_011533097.1 | |||
POLE | XM_011534797.4 | c.4757+4C>G | splice_region_variant, intron_variant | Intron 33 of 39 | XP_011533099.1 | |||
POLE | XM_011534802.4 | c.2666+4C>G | splice_region_variant, intron_variant | Intron 17 of 23 | XP_011533104.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461006Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726826
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at