chr8:30921935:G>A Detail (hg19) (WRN)

Information

Genome

Assembly Position
hg19 chr8:30,921,935-30,921,935
hg38 chr8:31,064,419-31,064,419 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000553.4:c.340G>A NP_000544.2:p.Val114Ile
Ensemble ENST00000298139.7:c.340G>A ENST00000298139.7:p.Val114Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.022
ToMMo:0.023
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.021

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 tgv32672427 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2021-12-10 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 2018-08-16 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
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.615 Werner syndrome Interestingly, a WRN cDNA expression vector bearing a valine at position 114 ins... BeFree 23523974 Detail
0.012 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.360 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.011 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.080 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.002 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.001 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND not specified ClinVar Detail
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND Werner syndrome ClinVar Detail
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND not provided ClinVar Detail
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND Wiskott-Aldrich syndrome ClinVar Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine s... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... 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
rs2230009 dbSNP
Genome
hg19
Position
chr8:30,921,935-30,921,935
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Gene Symbol (HGVD)
WRN
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
158.50
Standard deviation of sample read depth (HGVD)
67.37
Number of reference allele (HGVD)
2366
Number of alternative allele (HGVD)
54
Allele Frequency (HGVD)
0.02231404958677686
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))
rs2230009
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0235
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
394
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
185
East Asian Heterozygous Counts (ExAC)
183
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.021377397735151377
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
7282
Heterozygous Counts in All Race (ExAC)
6670
Homozygous Counts in All Race (ExAC)
306
Allele Frequency in All Race (ExAC)
0.0599805610925325
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