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NM_000204.5(CFI):c.1440_1441del (p.Arg480fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2022
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:
RCV002847697.3

Allele description [Variation Report for NM_000204.5(CFI):c.1440_1441del (p.Arg480fs)]

NM_000204.5(CFI):c.1440_1441del (p.Arg480fs)

Gene:
CFI:complement factor I [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q25
Genomic location:
Preferred name:
NM_000204.5(CFI):c.1440_1441del (p.Arg480fs)
HGVS:
  • NC_000004.12:g.109742584CT[1]
  • NG_007569.1:g.64399AG[1]
  • NM_000204.5:c.1440_1441delMANE SELECT
  • NM_001318057.2:c.1464_1465del
  • NM_001331035.2:c.1419_1420del
  • NM_001375278.1:c.1464_1465del
  • NM_001375279.1:c.1440_1441del
  • NM_001375280.1:c.1419_1420del
  • NM_001375281.1:c.1440_1441del
  • NM_001375282.1:c.1419_1420del
  • NM_001375283.1:c.1383_1384del
  • NM_001375284.1:c.831_832del
  • NP_000195.2:p.Arg480Serfs
  • NP_000195.3:p.Arg480fs
  • NP_001304986.2:p.Arg488fs
  • NP_001317964.1:p.Arg473fs
  • NP_001362207.1:p.Arg488fs
  • NP_001362208.1:p.Arg480fs
  • NP_001362209.1:p.Arg473fs
  • NP_001362210.1:p.Arg480fs
  • NP_001362211.1:p.Arg473fs
  • NP_001362212.1:p.Arg461fs
  • NP_001362213.1:p.Arg277fs
  • LRG_48t1:c.1438_1439AG[1]
  • LRG_48:g.64399AG[1]
  • LRG_48p1:p.Arg480Serfs
  • NC_000004.11:g.110663740CT[1]
  • NC_000004.11:g.110663740_110663741del
  • NM_000204.3:c.1438_1439AG[1]
  • NR_164671.1:n.1185AG[1]
  • NR_164672.1:n.1488AG[1]
  • NR_164673.1:n.1462AG[1]
Protein change:
R277fs
Molecular consequence:
  • NM_000204.5:c.1440_1441del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318057.2:c.1464_1465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001331035.2:c.1419_1420del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375278.1:c.1464_1465del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375279.1:c.1440_1441del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375280.1:c.1419_1420del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375281.1:c.1440_1441del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375282.1:c.1419_1420del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375283.1:c.1383_1384del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375284.1:c.831_832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_164671.1:n.1185AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164672.1:n.1488AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164673.1:n.1462AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003228966Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 20, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.

Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship TH.

J Am Soc Nephrol. 2005 Jul;16(7):2150-5. Epub 2005 May 25.

PubMed [citation]
PMID:
15917334

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18.

PubMed [citation]
PMID:
16621965
PMCID:
PMC1895874
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003228966.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CFI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg480Serfs*8) in the CFI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFI are known to be pathogenic (PMID: 15917334, 16621965, 19065647, 20016463, 22710145).

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

Last Updated: Sep 29, 2024