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
Links
Type Database ID Link
Gene MIM 604611 OMIM
HGNC 12791 HGNC
Ensembl ENSG00000165392 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32675562 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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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