rs1428729186
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006231.4(POLE):c.5811+7G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,198 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
Genome browser will be placed here
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.5811+7G>T | splice_region_variant, intron_variant | Intron 42 of 48 | ENST00000320574.10 | NP_006222.2 | ||
POLE | XM_011534795.4 | c.5811+7G>T | splice_region_variant, intron_variant | Intron 42 of 47 | XP_011533097.1 | |||
POLE | XM_011534797.4 | c.4890+7G>T | splice_region_variant, intron_variant | Intron 34 of 39 | XP_011533099.1 | |||
POLE | XM_011534802.4 | c.2799+7G>T | splice_region_variant, intron_variant | Intron 18 of 23 | XP_011533104.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455198Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 723210
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.