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NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) AND TNF receptor-associated periodic fever syndrome (TRAPS)

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000083925.2

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)]

NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)

Gene:
TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)
HGVS:
  • NC_000012.12:g.6333809A>G
  • NG_007506.1:g.13287T>C
  • NM_001065.4:c.250T>CMANE SELECT
  • NM_001346091.2:c.-75T>C
  • NM_001346092.2:c.-328T>C
  • NP_001056.1:p.Cys84Arg
  • NP_001056.1:p.Cys84Arg
  • LRG_193t1:c.250T>C
  • LRG_193:g.13287T>C
  • LRG_193p1:p.Cys84Arg
  • NC_000012.11:g.6442975A>G
  • NM_001065.2:c.250T>C
  • NM_001065.3:c.250T>C
  • NR_144351.2:n.512T>C
Protein change:
C84R
Links:
dbSNP: rs104895253
NCBI 1000 Genomes Browser:
rs104895253
Molecular consequence:
  • NM_001346091.2:c.-75T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346092.2:c.-328T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001065.4:c.250T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_144351.2:n.512T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
TNF receptor-associated periodic fever syndrome (TRAPS) (FPF)
Synonyms:
Familial Hibernian fever; Tumor necrosis factor receptor-associated periodic syndrome; TNF receptor-associated periodic syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007727; MedGen: C1275126; Orphanet: 32960; OMIM: 142680

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116037Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

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

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116037.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024