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NM_000594.3(TNF):c.-488G>A AND Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 7, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001836755.9

Allele description [Variation Report for NM_000594.3(TNF):c.-488G>A]

NM_000594.3(TNF):c.-488G>A

Gene:
TNF:tumor necrosis factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000594.3(TNF):c.-488G>A
HGVS:
  • NC_000006.12:g.31575254G>A
  • NG_007462.1:g.4682G>A
  • NG_012010.1:g.8156G>A
  • NC_000006.11:g.31543031G>A
Nucleotide change:
-308G-A
Links:
PharmGKB: 655384799; PharmGKB: 655384799PA10004; PharmGKB: 655384799PA164713366; PharmGKB: 655384799PA449515; PharmGKB: 655384799PA452639; PharmGKB Clinical Annotation: 655384799; OMIM: 191160.0004; dbSNP: rs1800629
NCBI 1000 Genomes Browser:
rs1800629

Condition(s)

Name:
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001792246HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significance
(Aug 7, 2021)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV001792246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Differences in plasma levels of TNFR2 according to genotypes

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024