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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005092002	Molecular Medicine Center, Medical University of Sofia	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 22, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005092002

Molecular Medicine Center, Medical University of Sofia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 22, 2024)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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