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NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg) AND Susceptibility to severe COVID-19

Germline classification:
Likely risk allele (1 submission)
Last evaluated:
Jul 1, 2022
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:
RCV003117596.4

Allele description [Variation Report for NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)]

NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)

Gene:
TICAM1:TIR domain containing adaptor molecule 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)
HGVS:
  • NC_000019.10:g.4816604C>T
  • NG_031998.1:g.20139G>A
  • NM_001385678.1:c.1732G>A
  • NM_001385679.1:c.1639G>A
  • NM_001385680.1:c.1132G>A
  • NM_182919.4:c.1774G>AMANE SELECT
  • NP_001372607.1:p.Gly578Arg
  • NP_001372608.1:p.Gly547Arg
  • NP_001372609.1:p.Gly378Arg
  • NP_891549.1:p.Gly592Arg
  • NP_891549.1:p.Gly592Arg
  • LRG_358t1:c.1774G>A
  • LRG_358:g.20139G>A
  • LRG_358p1:p.Gly592Arg
  • NC_000019.9:g.4816616C>T
  • NM_182919.2:c.1774G>A
  • NM_182919.3:c.1774G>A
Protein change:
G378R
Links:
dbSNP: rs74359855
NCBI 1000 Genomes Browser:
rs74359855
Molecular consequence:
  • NM_001385678.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385679.1:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385680.1:c.1132G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182919.4:c.1774G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Susceptibility to severe COVID-19
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003798479Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
no assertion criteria provided
Likely risk allele
(Jul 1, 2022) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV003798479.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024