NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs) AND Werner syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 17, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032139.1

Allele description [Variation Report for NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs)]

Gene:
WRN:Werner syndrome, RecQ helicase-like [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
8p12
Genomic location:
Preferred name:
NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs)
HGVS:
  • NC_000008.11:g.31150358delA
  • NG_008870.1:g.122097delA
  • NM_000553.4:c.3590delA
  • NP_000544.2:p.Asn1197Thrfs
  • LRG_524t1:c.3590delA
  • LRG_524:g.122097delA
  • LRG_524p1:p.Asn1197Thrfs
  • NC_000008.10:g.31007874delA
Links:
dbSNP: 281865160
NCBI 1000 Genomes Browser:
rs281865160
Molecular consequence:
  • NM_000553.4:c.3590delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Werner syndrome (WRN)
Synonyms:
Werner's syndrome
Identifiers:
MedGen: C0043119; Orphanet: 902; OMIM: 277700
Age of onset:
Adolescence / Young adulthood
Prevalence:
1-9 / 1 000 000 902

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000055698GeneReviewsPathologic
(Nov 17, 2011)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000055698.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 14, 2014

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