chr12:132649340:C>T Detail (hg38) (POLE)

Information

Genome

Assembly Position
hg19 chr12:133,225,926-133,225,926 View the variant detail on this assembly version.
hg38 chr12:132,649,340-132,649,340

HGVS

Type Transcript Protein
RefSeq NM_006231.3:c.3971G>A NP_006222.2:p.Arg1324His
Ensemble ENST00000320574.10:c.3971G>A ENST00000320574.10:p.Arg1324His
ENST00000535270.5:c.3890G>A ENST00000535270.5:p.Arg1297His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 174762 OMIM
HGNC 9177 HGNC
Ensembl ENSG00000177084 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47844195 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-11-02 criteria provided, single submitter Colorectal cancer, susceptibility to, 12 germline Detail
Uncertain significance 2016-08-01 no assertion criteria provided colorectal cancer germline Detail
Uncertain significance 2024-01-28 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) AND Colorectal cancer, susceptibility to, 12 ClinVar Detail
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) AND Colorectal cancer ClinVar Detail
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs143981093 dbSNP
Genome
hg38
Position
chr12:132,649,340-132,649,340
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs143981093
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8562
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
117672
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6996396763886056E-4
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