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NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter) AND Susceptibility to severe COVID-19

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 22, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004598581.1

Allele description [Variation Report for NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter)]

NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter)

Genes:
CFAP65:cilia and flagella associated protein 65 [Gene - OMIM - HGNC]
LOC100129175:uncharacterized LOC100129175 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter)
HGVS:
  • NC_000002.12:g.219003989C>A
  • NG_051336.1:g.42563G>T
  • NM_194302.4:c.5518G>TMANE SELECT
  • NP_919278.2:p.Glu1840Ter
  • NC_000002.11:g.219868711C>A
Protein change:
E1840*
Molecular consequence:
  • NM_194302.4:c.5518G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005092002Molecular Medicine Center, Medical University of Sofia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 22, 2024) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Medicine Center, Medical University of Sofia, SCV005092002.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Novel (unreported in gnomAD or dbSNP until April 2024) variant found in severely infected COVID-19 Bulgarian patients in a research study. Variant is classified as likely pathogenic according to the ACMG criteria: PM2,PVS1.

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

Last Updated: Aug 11, 2024