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NM_001710.6(CFB):c.724A>C (p.Ile242Leu) AND Atypical hemolytic-uremic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2018
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:
RCV001328121.2

Allele description [Variation Report for NM_001710.6(CFB):c.724A>C (p.Ile242Leu)]

NM_001710.6(CFB):c.724A>C (p.Ile242Leu)

Gene:
CFB:complement factor B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
HGVS:
  • NC_000006.12:g.31947807A>C
  • NG_008191.1:g.6864A>C
  • NM_001710.6:c.724A>CMANE SELECT
  • NP_001701.2:p.Ile242Leu
  • NP_001701.2:p.Ile242Leu
  • LRG_136t1:c.724A>C
  • LRG_136:g.6864A>C
  • LRG_136p1:p.Ile242Leu
  • NC_000006.11:g.31915584A>C
  • NM_001710.5:c.724A>C
  • P00751:p.Ile242Leu
Protein change:
I242L
Links:
UniProtKB: P00751#VAR_063661; dbSNP: rs144812066
NCBI 1000 Genomes Browser:
rs144812066
Molecular consequence:
  • NM_001710.6:c.724A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atypical hemolytic-uremic syndrome
Synonyms:
Atypical HUS
Identifiers:
MONDO: MONDO:0016244; MedGen: C2931788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449213Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Aug 28, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449213.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a variant of uncertain significance (VOUS), c.724A>C (p.Ile242Leu), in the CFB gene. This variant (dbSNP: rs144812066) in the heterozygous state has been previously reported in patients with atypical hemolytic uremic syndrome (aHUS) (Maga et al 2010 Hum Mutat 31:E1445-60; Orandi et al 2015 Clin Pediatr (Phila) 55:308-311) however no functional studies or evidence for pathogenicity were provided. This variant has been reported in the ExAC database (http://exac.broadinstitute.org) with an allele frequency of 0.099% (116/117380 alleles). In silico analysis (Alamut Visual 2.7.7.2) is inconclusive regarding this change; Mutation Taster predicts it to be likely pathogenic whereas Align GVGD, SIFT and PolyPhen2 predicts this variant to be benign. Heterozygous variants in CFB have been reported to confer susceptibility to atypical hemolytic uremic syndrome (aHUS) (OMIM 612924). The inheritance is typically autosomal dominant and can show incomplete penetrance (Genereviews PMID: 20301541).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024