chr12-132625726-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006231.4(POLE):āc.6576G>Cā(p.Ala2192=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006231.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLE | NM_006231.4 | c.6576G>C | p.Ala2192= | synonymous_variant | 47/49 | ENST00000320574.10 | NP_006222.2 | |
POLE | XM_011534795.4 | c.6576G>C | p.Ala2192= | synonymous_variant | 47/48 | XP_011533097.1 | ||
POLE | XM_011534797.4 | c.5655G>C | p.Ala1885= | synonymous_variant | 39/40 | XP_011533099.1 | ||
POLE | XM_011534802.4 | c.3564G>C | p.Ala1188= | synonymous_variant | 23/24 | XP_011533104.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLE | ENST00000320574.10 | c.6576G>C | p.Ala2192= | synonymous_variant | 47/49 | 1 | NM_006231.4 | ENSP00000322570 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460880Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726806
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.