chr8:31167138:T>C Detail (hg38) (WRN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:31,024,654-31,024,654 View the variant detail on this assembly version. |
| hg38 | chr8:31,167,138-31,167,138 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000553.4:c.4099T>C | NP_000544.2:p.Cys1367Arg |
| Ensemble | ENST00000298139.7:c.4099T>C | ENST00000298139.7:p.Cys1367Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.074 |
| ToMMo:0.067 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.113 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2021-12-03 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Werner syndrome |
germline
unknown
|
Detail |
|
Benign
|
2018-05-17 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | Wiskott-Aldrich syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Malignant neoplasm of breast | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast ... | BeFree | 16501249 | Detail |
| 0.006 | sarcoma | Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN ... | BeFree | 18271933 | Detail |
| 0.003 | colorectal cancer | However, no correlation was found between WRN Cys1367Arg polymorphism and progno... | BeFree | 25355595 | Detail |
| 0.196 | Breast Cancer, Familial | Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial ... | BeFree | 16501249 | Detail |
| 0.011 | Malignant neoplasm of breast | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast ... | BeFree | 16501249 | Detail |
| 0.001 | breast carcinoma | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast ... | BeFree | 16501249 | Detail |
| 0.006 | Lymphoma, Non-Hodgkin | In addition, a significant interaction with risk of overall NHL was observed bet... | BeFree | 25178586 | Detail |
| 0.001 | colorectal carcinoma | However, no correlation was found between WRN Cys1367Arg polymorphism and progno... | BeFree | 25355595 | Detail |
| 0.080 | breast carcinoma | The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast ... | BeFree | 16501249 | Detail |
| <0.001 | lymphoma | WRN Cys1367Arg was associated with decreased risk of NHL overall (OR: 0.71; 95% ... | BeFree | 16738949 | Detail |
| 0.003 | malignant fibrous histiocytoma | An exploratory subgroup analysis without multiple comparison adjustment suggeste... | BeFree | 18271933 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.008 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.003 | Lymphoma, Follicular | The following genotypes in combination with hair dye use before 1980 were associ... | BeFree | 25178586 | Detail |
| 0.002 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) AND not specified | ClinVar | Detail |
| NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) AND Werner syndrome | ClinVar | Detail |
| NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) AND not provided | ClinVar | Detail |
| NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) AND Wiskott-Aldrich syndrome | ClinVar | Detail |
| The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared... | DisGeNET | Detail |
| Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk ... | DisGeNET | Detail |
| However, no correlation was found between WRN Cys1367Arg polymorphism and prognosis in CRC patients. | DisGeNET | Detail |
| Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial breast cancer patien... | DisGeNET | Detail |
| The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared... | DisGeNET | Detail |
| The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared... | DisGeNET | Detail |
| In addition, a significant interaction with risk of overall NHL was observed between WRN rs1346044 a... | DisGeNET | Detail |
| However, no correlation was found between WRN Cys1367Arg polymorphism and prognosis in CRC patients. | DisGeNET | Detail |
| The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared... | DisGeNET | Detail |
| WRN Cys1367Arg was associated with decreased risk of NHL overall (OR: 0.71; 95% CI: 0.56-0.91; P=0.0... | DisGeNET | Detail |
| An exploratory subgroup analysis without multiple comparison adjustment suggested that the WRN-Cys13... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | 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
- rs1346044 dbSNP
- Genome
- hg38
- Position
- chr8:31,167,138-31,167,138
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 149.08
- Standard deviation of sample read depth (HGVD)
- 69.44
- Number of reference allele (HGVD)
- 2242
- Number of alternative allele (HGVD)
- 178
- Allele Frequency (HGVD)
- 0.07355371900826446
- Gene Symbol (HGVD)
- WRN
- 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))
- rs1346044
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0667
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1118
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 973
- East Asian Heterozygous Counts (ExAC)
- 855
- East Asian Homozygous Counts (ExAC)
- 59
- East Asian Allele Frequency (ExAC)
- 0.11290322580645161
- Chromosome Counts in All Race (ExAC)
- 120978
- Allele Counts in All Race (ExAC)
- 29233
- Heterozygous Counts in All Race (ExAC)
- 21705
- Homozygous Counts in All Race (ExAC)
- 3764
- Allele Frequency in All Race (ExAC)
- 0.24163897568152887
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