NM_172351.3(CD46):c.175C>T (p.Arg59Ter) AND Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

Germline classification:: risk factor (1 submission)
Last evaluated:: Aug 15, 2006
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:: RCV000018576.3

Allele description [Variation Report for NM_172351.3(CD46):c.175C>T (p.Arg59Ter)]

NM_172351.3(CD46):c.175C>T (p.Arg59Ter)

Gene:

CD46:CD46 molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_172351.3(CD46):c.175C>T (p.Arg59Ter)

Other names:

R25*

HGVS:

NC_000001.11:g.207757091C>T
NG_009296.1:g.10035C>T
NM_002389.4:c.175C>T
NM_153826.4:c.175C>T
NM_172350.3:c.175C>T
NM_172351.3:c.175C>TMANE SELECT
NM_172352.3:c.175C>T
NM_172353.3:c.175C>T
NM_172355.3:c.175C>T
NM_172356.3:c.175C>T
NM_172357.3:c.175C>T
NM_172358.3:c.175C>T
NM_172359.3:c.175C>T
NM_172361.3:c.175C>T
NP_002380.3:p.Arg59Ter
NP_722548.1:p.Arg59Ter
NP_758860.1:p.Arg59Ter
NP_758861.1:p.Arg59Ter
NP_758862.1:p.Arg59Ter
NP_758863.1:p.Arg59Ter
NP_758865.1:p.Arg59Ter
NP_758866.1:p.Arg59Ter
NP_758867.1:p.Arg59Ter
NP_758868.1:p.Arg59Ter
NP_758869.1:p.Arg59Ter
NP_758871.1:p.Arg59Ter
LRG_155t1:c.175C>T
LRG_155:g.10035C>T
LRG_155p1:p.Arg59Ter
NC_000001.10:g.207930436C>T
p.Arg59*

Protein change:

R59*; ARG25TER

Links:

OMIM: 120920.0005; dbSNP: rs121909590

NCBI 1000 Genomes Browser:

rs121909590

Molecular consequence:

NM_002389.4:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_153826.4:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172350.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172351.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172352.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172353.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172355.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172356.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172357.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172358.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172359.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172361.3:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Synonyms:: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS, SUSCEPTIBILITY TO, 2; Atypical hemolytic-uremic syndrome 2
Identifiers:: MONDO: MONDO:0013040; MedGen: C2752040; Orphanet: 2134; OMIM: 612922

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038859	OMIM	no assertion criteria provided	risk factor (Aug 15, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038859

OMIM

no assertion criteria provided

risk factor
(Aug 15, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

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

Details of each submission

From OMIM, SCV000038859.2

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

Description

In 3 members of a family with atypical hemolytic uremic syndrome (AHUS2; 612922), Caprioli et al. (2006) identified compound heterozygosity for 2 mutations in the MCP gene: a 218C-T transition in exon 2 resulting in an arg25-to-ter (R25X) substitution, and C1Y (120920.0006). The R25X mutation causes loss of the entire transmembrane domain so that the protein is not expressed on the surface of peripheral blood cells. These 3 family members also carried a mutation in the CFH gene (134370). Caprioli et al. (2006) also found heterozygosity for the R25X mutation in 3 additional unrelated patients with sporadic aHUS.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine