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NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) AND Atypical hemolytic-uremic syndrome with B factor anomaly

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001155246.4

Allele description

NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)

Genes:
C2:complement C2 [Gene - OMIM - HGNC]
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.1598A>G (p.Lys533Arg)
HGVS:
  • NC_000006.12:g.31950377A>G
  • NG_008191.1:g.9434A>G
  • NM_001710.6:c.1598A>GMANE SELECT
  • NP_001701.2:p.Lys533Arg
  • NP_001701.2:p.Lys533Arg
  • LRG_136t1:c.1598A>G
  • LRG_136:g.9434A>G
  • LRG_136p1:p.Lys533Arg
  • NC_000006.11:g.31918154A>G
  • NM_001710.5:c.1598A>G
  • P00751:p.Lys533Arg
Protein change:
K533R
Links:
UniProtKB: P00751#VAR_063664; dbSNP: rs149101394
NCBI 1000 Genomes Browser:
rs149101394
Molecular consequence:
  • NM_001710.6:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atypical hemolytic-uremic syndrome with B factor anomaly
Synonyms:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS, SUSCEPTIBILITY TO, 4; Atypical hemolytic-uremic syndrome 4
Identifiers:
MONDO: MONDO:0013042; MedGen: C2752038; Orphanet: 2134; OMIM: 612924

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001316665Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ.

Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256.

PubMed [citation]
PMID:
20513133

A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.

Tawadrous H, Maga T, Sharma J, Kupferman J, Smith RJ, Schoeneman M.

Pediatr Nephrol. 2010 May;25(5):947-51. doi: 10.1007/s00467-009-1415-3. Epub 2010 Jan 27.

PubMed [citation]
PMID:
20108004

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001316665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Feb 28, 2024