NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1

Germline classification:: risk factor (1 submission)
Last evaluated:: Apr 1, 2003
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:: RCV000018008.2

Allele description [Variation Report for NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)]

NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)

Gene:

CFH:complement factor H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)

HGVS:

NC_000001.11:g.196747260C>G
NG_007259.1:g.100250C>G
NM_000186.4:c.3643C>GMANE SELECT
NP_000177.2:p.Arg1215Gly
NP_000177.2:p.Arg1215Gly
LRG_47t1:c.3643C>G
LRG_47:g.100250C>G
LRG_47p1:p.Arg1215Gly
NC_000001.10:g.196716390C>G
NM_000186.3:c.3643C>G

Protein change:

R1215G; ARG1215GLY

Links:

OMIM: 134370.0001; dbSNP: rs121913051

NCBI 1000 Genomes Browser:

rs121913051

Molecular consequence:

NM_000186.4:c.3643C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemolytic uremic syndrome, atypical, susceptibility to, 1
Synonyms:: AHUS, SUSCEPTIBILITY TO, 1; Atypical hemolytic-uremic syndrome 1
Identifiers:: MONDO: MONDO:0009335; MedGen: C2749604; Orphanet: 2134; Orphanet: 90038; OMIM: 235400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038287	OMIM	no assertion criteria provided	risk factor (Apr 1, 2003)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 646435, 9551389, 11170896, 12697737 Goodship, J., Warwicker, P., Pirson, Y., Nicholls, A., Turnpenny, P., Goodship, T. Haemolytic uremic syndrome maps to chromosome 1q and is associated with mutations in the complement factor H gene. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A56-only, 1997.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038287

OMIM

no assertion criteria provided

risk factor
(Apr 1, 2003)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Goodship, J., Warwicker, P., Pirson, Y., Nicholls, A., Turnpenny, P., Goodship, T. Haemolytic uremic syndrome maps to chromosome 1q and is associated with mutations in the complement factor H gene. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A56-only, 1997.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Familial haemolytic uraemic syndrome.

Edelsten AD, Tuck S.

Arch Dis Child. 1978 Mar;53(3):255-6. No abstract available.

PubMed [citation]

PMID:: 646435
PMCID:: PMC1545136

Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA.

Kidney Int. 1998 Apr;53(4):836-44.

PubMed [citation]

PMID:: 9551389

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000038287.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

In affected members of a large family with autosomal dominant atypical hemolytic uremic syndrome (AHUS1; 235400) originally reported by Edelsten and Tuck (1978), Goodship et al. (1997) and Warwicker et al. (1998) identified a heterozygous C-to-G transversion in exon 20 of the CFH gene, predicted to result in an arg1197-to-gly (ARG1197GLY) substitution in SCR20. Although none of the patients had decreased levels of plasma factor H, Warwicker et al. (1998) postulated that the mutation disrupted the structure and function of the protein. Richards et al. (2001) subsequently referred to this mutation as arg1215 to gly (R1215G) based on numbering that includes the initiation codon and signal peptide.

Manuelian et al. (2003) identified the R1215G mutation in another patient with AHUS1. In vitro functional expression studies showed that the mutant protein had decreased binding to C3b/C3d, heparin, and human endothelial cells.

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

Last Updated: Apr 23, 2022

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