NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 2021
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:: RCV001508944.5

Allele description [Variation Report for NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly)]

NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly)

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.3593A>G (p.Glu1198Gly)

HGVS:

NC_000001.11:g.196747210A>G
NG_007259.1:g.100200A>G
NM_000186.4:c.3593A>GMANE SELECT
NP_000177.2:p.Glu1198Gly
LRG_47t1:c.3593A>G
LRG_47:g.100200A>G
NC_000001.10:g.196716340A>G
NM_000186.3:c.3593A>G
p.Glu1198Gly

Protein change:

E1198G

Links:

dbSNP: rs2149118730

NCBI 1000 Genomes Browser:

rs2149118730

Molecular consequence:

NM_000186.4:c.3593A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001715387	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 2, 2021)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 27905547, 14583443, 16601698, 19351878, 27006390, 26728463, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001715387

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 2, 2021)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

In silico Mapping of Protein Unfolding Mutations for Inherited Disease.

McCafferty CL, Sergeev YV.

Sci Rep. 2016 Dec 1;6:37298. doi: 10.1038/srep37298.

PubMed [citation]

PMID:: 27905547
PMCID:: PMC5131339

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP..

Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.

PubMed [citation]

PMID:: 14583443

See all PubMed Citations (7)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715387.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

PM1, PM5, PM2

#	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		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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