NM_001065.3(TNFRSF1A):c.295T>A (p.Cys99Ser) AND TNF receptor-associated periodic fever syndrome (TRAPS)

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013138.25

Allele description [Variation Report for NM_001065.3(TNFRSF1A):c.295T>A (p.Cys99Ser)]

NM_001065.3(TNFRSF1A):c.295T>A (p.Cys99Ser)

Gene:
TNFRSF1A:tumor necrosis factor receptor superfamily member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001065.3(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)
Identifiers:
MedGen: C1275126; Orphanet: 32960; OMIM: 142680
Age of onset:
Infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033385OMIMno assertion criteria providedPathogenic
(Sep 1, 2003)
germlineliterature only

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

SCV000116051Unité médicale des maladies autoinflammatoires CHRU Montpellierno assertion providednot providednot providednot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot provided1not providedliterature only

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

#EthnicityIndividualsChromosomes 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 testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2016