TNFRSF1A:c.295T>A (p.Cys99Ser) AND TNF receptor-associated periodic fever syndrome (TRAPS)

Clinical significance:Pathogenic (Last evaluated: Dec 12, 2013)

Review status:

classified by single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013138.24

Allele description [Variation Report for TNFRSF1A:c.295T>A (p.Cys99Ser)]

Gene:
TNFRSF1A:tumor necrosis factor receptor superfamily, member 1A [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
TNFRSF1A:c.295T>A (p.Cys99Ser)
HGVS:
  • NC_000012.12:g.6333764A>T
  • NG_007506.1:g.13332T>A
  • NM_001065.3:c.295T>A
  • NP_001056.1:p.Cys99Ser
  • LRG_193t1:c.295T>A
  • LRG_193:g.13332T>A
  • LRG_193p1:p.Cys99Ser
  • NC_000012.11:g.6442930A>T
  • NM_001065.2:c.295T>A
Protein change:
C70S; CYS70SER
Links:
OMIM: 191190.0011; dbSNP: 104895228
NCBI 1000 Genomes Browser:
rs104895228
Molecular consequence:
  • NM_001065.3:c.295T>A: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TNF receptor-associated periodic fever syndrome (TRAPS)
Synonyms:
Periodic fever, familial, autosomal dominant; Familial Hibernian fever; Tumor necrosis factor receptor-associated periodic syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C1275126; OMIM: 142680; Orphanet: 32960
Age of onset:
Childhood

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000033385OMIMPathogenic
(Dec 12, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000116051Unité médicale des maladies autoinflammatoires CHRU Montpellierclassified by single submitternot providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot provided1not providednot provided

Citations

PubMed

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, et al.

Arthritis Rheum. 2003 Sep;48(9):2632-44.

PubMed [citation]
PMID:
13130484

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.

Kusuhara K, Nomura A, Nakao F, Hara T.

Eur J Pediatr. 2004 Jan;163(1):30-2. Epub 2003 Nov 11.

PubMed [citation]
PMID:
14610673

Details of each submission

From OMIM, SCV000033385.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-generation Japanese family with periodic fever (142680), Aganna et al. (2003) identified a 295T-A transversion in exon 3 of the TNFRSF1A gene, resulting in a cys70-to-ser (C70S) substitution. The authors stated that this was the first report of TNF receptor-associated periodic fever in a patient from the Far East.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Unité médicale des maladies autoinflammatoires CHRU Montpellier, SCV000116051.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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