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NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 2003
Accession:
VCV000012345.2
Variation ID:
12345
Description:
single nucleotide variant
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NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser)

Allele ID
27384
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 6333764 (GRCh38) GRCh38 UCSC
12: 6442930 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P19438:p.Cys99Ser
LRG_193:g.13332T>A
NC_000012.11:g.6442930A>T
... more HGVS
Protein change
C99S
Other names
C70S
Canonical SPDI
NC_000012.12:6333763:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280163
UniProtKB: P19438#VAR_019304
OMIM: 191190.0011
dbSNP: rs104895228
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Sep 1, 2003 RCV000013138.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNFRSF1A - - GRCh38
GRCh37
300 353

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 01, 2003)
no assertion criteria provided
Method: literature only
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000033385.2
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 13130484
Comment on evidence:
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 … (more)
not provided
(-)
no assertion provided
Method: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)
Affected status: not provided
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000116051.1
Submitted: (Jun 07, 2010)

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
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Kusuhara K European journal of pediatrics 2004 PMID: 14610673
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Aganna E Arthritis and rheumatism 2003 PMID: 13130484

Text-mined citations for rs104895228...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021