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NM_000553.6(WRN):c.979G>T (p.Gly327Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 24, 2019
Accession:
VCV000938604.2
Variation ID:
938604
Description:
single nucleotide variant
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NM_000553.6(WRN):c.979G>T (p.Gly327Ter)

Allele ID
934259
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p12
Genomic location
8: 31081006 (GRCh38) GRCh38 UCSC
8: 30938522 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_524:g.52745G>T
LRG_524t1:c.979G>T
NC_000008.10:g.30938522G>T
... more HGVS
Protein change
G327*
Other names
-
Canonical SPDI
NC_000008.11:31081005:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 24, 2019 RCV001207861.2
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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
Pathogenic
(Aug 24, 2019)
criteria provided, single submitter
Method: clinical testing
Werner syndrome
Allele origin: germline
Invitae
Accession: SCV001379228.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Gly327*) in the WRN gene. It is expected to result in an absent or disrupted protein … (more)

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
The spectrum of WRN mutations in Werner syndrome patients. Huang S Human mutation 2006 PMID: 16673358

Record last updated Oct 08, 2021