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NM_000553.6(WRN):c.1882C>G (p.Leu628Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000135420.5
Variation ID:
135420
Description:
single nucleotide variant
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NM_000553.6(WRN):c.1882C>G (p.Leu628Val)

Allele ID
139159
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 31091882 (GRCh38) GRCh38 UCSC
8: 30949398 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_524:g.63621C>G
LRG_524t1:c.1882C>G
NC_000008.11:g.31091882C>G
... more HGVS
Protein change
L628V
Other names
-
Canonical SPDI
NC_000008.11:31091881:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00141
The Genome Aggregation Database (gnomAD) 0.00096
Trans-Omics for Precision Medicine (TOPMed) 0.00119
1000 Genomes Project 0.00319
Links
ClinGen: CA162707
dbSNP: rs77969734
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000227204.8
not provided 1 no assertion provided Sep 19, 2013 RCV000122276.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WRN - - GRCh38
GRCh37
1881 1944

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Invitae
Accession: SCV000285528.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320244.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000086501.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population. Zhou H Journal of bone and mineral metabolism 2015 PMID: 25637295
Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview. Chang C Case reports in surgery 2014 PMID: 25018888
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
Werner syndrome gene variants in human sarcomas. Hsu JJ Molecular carcinogenesis 2010 PMID: 19824023

Text-mined citations for rs77969734...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021