NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) AND Factor I deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2003
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:: RCV002266943.1

Allele description [Variation Report for NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)]

NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)

Gene:

CFI:complement factor I [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)

HGVS:

NC_000004.12:g.109746474AT[3]
NG_007569.1:g.60509AT[3]
NM_000204.4:c.1176_1177dupAT
NM_000204.5:c.1176_1177dupMANE SELECT
NM_001318057.2:c.1200_1201dup
NM_001331035.2:c.1155_1156dup
NM_001375278.1:c.1200_1201dup
NM_001375279.1:c.1176_1177dup
NM_001375280.1:c.1155_1156dup
NM_001375281.1:c.1176_1177dup
NM_001375282.1:c.1155_1156dup
NM_001375283.1:c.1119_1120dup
NM_001375284.1:c.567_568dup
NP_000195.3:p.Trp393fs
NP_001304986.2:p.Trp401fs
NP_001317964.1:p.Trp386fs
NP_001362207.1:p.Trp401fs
NP_001362208.1:p.Trp393fs
NP_001362209.1:p.Trp386fs
NP_001362210.1:p.Trp393fs
NP_001362211.1:p.Trp386fs
NP_001362212.1:p.Trp374fs
NP_001362213.1:p.Trp190fs
LRG_48t1:c.1176_1177dup
LRG_48:g.60509AT[3]
NC_000004.11:g.110667629_110667630insAT
NC_000004.11:g.110667630AT[3]
NM_000204.3:c.1176_1177dup
NM_000204.3:c.1176_1177dupAT
NM_000204.4:c.1176_1177dup
NR_164672.1:n.1224AT[3]
NR_164673.1:n.1198AT[3]

Protein change:

W190fs

Links:

OMIM: 217030.0003; dbSNP: rs758049059

NCBI 1000 Genomes Browser:

rs758049059

Molecular consequence:

NM_000204.5:c.1176_1177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318057.2:c.1200_1201dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001331035.2:c.1155_1156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375278.1:c.1200_1201dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375279.1:c.1176_1177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375280.1:c.1155_1156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375281.1:c.1176_1177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375282.1:c.1155_1156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375283.1:c.1119_1120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375284.1:c.567_568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_164672.1:n.1224AT[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164673.1:n.1198AT[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Factor I deficiency (CFID)
Synonyms:: Complement factor I deficiency
Identifiers:: MONDO: MONDO:0012594; MedGen: C3463916; OMIM: 610984

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033144	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033144

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular characterization of homozygous hereditary factor I deficiency.

Baracho GV, Nudelman V, Isaac L.

Clin Exp Immunol. 2003 Feb;131(2):280-6.

PubMed [citation]

PMID:: 12562389
PMCID:: PMC1808620

Details of each submission

From OMIM, SCV000033144.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency (CFID; 610984), Baracho et al. (2003) identified a homozygous 2-bp insertion (1205insAT) in exon 11 of the CFI gene. The insertion resulted in premature termination of the protein. Each parent was heterozygous for the mutation. The older sister had recurrent infections and developed systemic lupus erythematosus (152700) with glomerulonephritis and the younger sister died at age 3 years of sepsis.

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

Last Updated: Jul 23, 2024

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