chr8:31141764:G>T Detail (hg38) (WRN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:30,999,280-30,999,280 View the variant detail on this assembly version. |
| hg38 | chr8:31,141,764-31,141,764 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000553.4:c.3222G>T | NP_000544.2:p.Leu1074Phe |
| Ensemble | ENST00000298139.7:c.3222G>T | ENST00000298139.7:p.Leu1074Phe |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.591 |
| ToMMo:0.575 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.632 |
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
|
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 |
|---|---|---|---|---|---|
| 0.006 | diffuse large B-cell lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.003 | diffuse large B-cell lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| 0.005 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| <0.001 | T-Cell Lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| 0.008 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| <0.001 | T-Cell Lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.013 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.006 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.080 | breast carcinoma | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
| 0.360 | Malignant neoplasm of breast | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
| 0.010 | Malignant neoplasm of breast | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
| 0.003 | breast carcinoma | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) AND not specified | ClinVar | Detail |
| NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) AND Werner syndrome | ClinVar | Detail |
| NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) AND not provided | ClinVar | Detail |
| NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) AND Wiskott-Aldrich syndrome | ClinVar | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
| In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
| In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
| In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | 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
- rs1801195 dbSNP
- Genome
- hg38
- Position
- chr8:31,141,764-31,141,764
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1089
- Mean of sample read depth (HGVD)
- 36.57
- Standard deviation of sample read depth (HGVD)
- 17.11
- Number of reference allele (HGVD)
- 890
- Number of alternative allele (HGVD)
- 1288
- Allele Frequency (HGVD)
- 0.5913682277318641
- 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))
- rs1801195
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5745
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9628
- 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)
- 5448
- East Asian Heterozygous Counts (ExAC)
- 2002
- East Asian Homozygous Counts (ExAC)
- 1723
- East Asian Allele Frequency (ExAC)
- 0.6321652355534927
- Chromosome Counts in All Race (ExAC)
- 120870
- Allele Counts in All Race (ExAC)
- 54292
- Heterozygous Counts in All Race (ExAC)
- 28984
- Homozygous Counts in All Race (ExAC)
- 12654
- Allele Frequency in All Race (ExAC)
- 0.44917680152229666
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