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 [Variation Report for NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001316665	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20513133, 20108004 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001316665

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

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

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	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: Feb 28, 2024

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