U.S. flag

An official website of the United States government

NM_001065.4(TNFRSF1A):c.625+10A>G AND Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6

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:
RCV001836715.9

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.625+10A>G]

NM_001065.4(TNFRSF1A):c.625+10A>G

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.625+10A>G
HGVS:
  • NC_000012.12:g.6330843T>C
  • NG_007506.1:g.16253A>G
  • NM_001065.4:c.625+10A>GMANE SELECT
  • NM_001346091.2:c.301+10A>G
  • NM_001346092.2:c.166+10A>G
  • LRG_193t1:c.625+10A>G
  • LRG_193:g.16253A>G
  • NC_000012.11:g.6440009T>C
  • NM_001065.3:c.625+10A>G
Nucleotide change:
IVS6, A-G (rs1800693)
Links:
OMIM: 191190.0013; dbSNP: rs1800693
NCBI 1000 Genomes Browser:
rs1800693
Molecular consequence:
  • NM_001065.4:c.625+10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346091.2:c.301+10A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346092.2:c.166+10A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001792248HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significance
(Aug 7, 2021) 		germlineresearch

Help

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, SCV001792248.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

NA

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

Last Updated: Mar 16, 2025