NM_000186.4(CFH):c.506A>G (p.His169Arg) AND CFH-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 2023
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:: RCV003399118.1

Allele description [Variation Report for NM_000186.4(CFH):c.506A>G (p.His169Arg)]

NM_000186.4(CFH):c.506A>G (p.His169Arg)

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.506A>G (p.His169Arg)

HGVS:

NC_000001.11:g.196677554A>G
NG_007259.1:g.30544A>G
NM_000186.4:c.506A>GMANE SELECT
NM_001014975.3:c.506A>G
NP_000177.2:p.His169Arg
NP_001014975.1:p.His169Arg
LRG_47t1:c.506A>G
LRG_47:g.30544A>G
NC_000001.10:g.196646684A>G
NM_000186.3:c.506A>G

Protein change:

H169R

Links:

dbSNP: rs768647508

NCBI 1000 Genomes Browser:

rs768647508

Molecular consequence:

NM_000186.4:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001014975.3:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CFH-related disorder
Synonyms:: CFH-related condition; CFH-Related Disorders
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004102669	Daryl Scott Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 10, 2023)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004102669

Daryl Scott Lab, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 10, 2023)

paternal

clinical testing

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	paternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV004102669.1

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

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

Last Updated: May 16, 2025

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