chr12:132665430:C>T Detail (hg38) (POLE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:133,242,016-133,242,016 View the variant detail on this assembly version. |
| hg38 | chr12:132,665,430-132,665,430 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006231.3:c.2340G>A | NP_006222.2:p.Ser780= |
| Ensemble | ENST00000320574.10:c.2340G>A | ENST00000320574.10:p.Ser780= |
| ENST00000535270.5:c.2259G>A | ENST00000535270.5:p.Ser753= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.022 |
| ToMMo:0.024 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.032 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
unknown
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, susceptibility to, 12 |
germline
|
Detail |
|
Benign
|
2015-05-19 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
no assertion criteria provided | Carcinoma of colon |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006231.4(POLE):c.2340G>A (p.Ser780=) AND not specified | ClinVar | Detail |
| NM_006231.4(POLE):c.2340G>A (p.Ser780=) AND Colorectal cancer, susceptibility to, 12 | ClinVar | Detail |
| NM_006231.4(POLE):c.2340G>A (p.Ser780=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_006231.4(POLE):c.2340G>A (p.Ser780=) AND not provided | ClinVar | Detail |
| NM_006231.4(POLE):c.2340G>A (p.Ser780=) AND Carcinoma of colon | 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
- rs5744822 dbSNP
- Genome
- hg38
- Position
- chr12:132,665,430-132,665,430
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 129.82
- Standard deviation of sample read depth (HGVD)
- 63.71
- Number of reference allele (HGVD)
- 2366
- Number of alternative allele (HGVD)
- 54
- Allele Frequency (HGVD)
- 0.02231404958677686
- Gene Symbol (HGVD)
- POLE
- 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))
- rs5744822
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0243
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 408
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 276
- East Asian Heterozygous Counts (ExAC)
- 264
- East Asian Homozygous Counts (ExAC)
- 6
- East Asian Allele Frequency (ExAC)
- 0.03204830469112866
- Chromosome Counts in All Race (ExAC)
- 120810
- Allele Counts in All Race (ExAC)
- 2835
- Heterozygous Counts in All Race (ExAC)
- 2755
- Homozygous Counts in All Race (ExAC)
- 40
- Allele Frequency in All Race (ExAC)
- 0.023466600446982865
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