NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) AND CFI-related disorder

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 4, 2023
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:: RCV004535248.1

Allele description

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:: CFI-related disorder
Synonyms:: CFI-Related Disorders; CFI-related condition
Identifiers:: MedGen: CN239325

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UNVERIFIED: Teleostei sp. U18_17 cytochrome oxidase subunit I-like gene, partial sequence; mitochondrial
gi|1784819687|gb|MK976646.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004715536	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004715536

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 4, 2023)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004715536.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The CFI c.1176_1177dupAT variant is predicted to result in a frameshift and premature protein termination (p.Trp393Tyrfs*5). This variant was reported in the homozygous state in two siblings with complement factor I deficiency (Baracho et al. 2003. PubMed ID: 12562389, reported as 1204_1205insAT). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-110667629-C-CAT). Frameshift variants in CFI are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Sep 29, 2024

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