Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000553.6(WRN):c.15dup (p.Leu6fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV001070898.1
Variation ID:
1070898
Description:
1bp duplication
Help

NM_000553.6(WRN):c.15dup (p.Leu6fs)

Allele ID
1061304
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 31058454-31058455 (GRCh38) GRCh38 UCSC
8: 30915970-30915971 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_524:g.30201dup
NC_000008.10:g.30915978dup
NC_000008.11:g.31058462dup
... more HGVS
Protein change
L6fs
Other names
-
Canonical SPDI
NC_000008.11:31058454:AAAAAAAA:AAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 11, 2020 RCV001383226.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Invitae
Accession: SCV001582312.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Leu6Ilefs*12) in the WRN gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
The spectrum of WRN mutations in Werner syndrome patients. Huang S Human mutation 2006 PMID: 16673358

Record last updated Oct 08, 2021