NM_000186.4(CFH):c.1697-3A>C AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 8, 2022
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:: RCV002484478.1

Allele description [Variation Report for NM_000186.4(CFH):c.1697-3A>C]

NM_000186.4(CFH):c.1697-3A>C

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.1697-3A>C

HGVS:

NC_000001.11:g.196725118A>C
NG_007259.1:g.78108A>C
NM_000186.4:c.1697-3A>CMANE SELECT
LRG_47:g.78108A>C
NC_000001.10:g.196694248A>C

Links:

dbSNP: rs778174105

NCBI 1000 Genomes Browser:

rs778174105

Molecular consequence:

NM_000186.4:c.1697-3A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Basal laminar drusen
Synonyms:: DRUSEN OF BRUCH MEMBRANE; DRUSEN, CUTICULAR; DRUSEN, EARLY ADULT-ONSET, GROUPED
Identifiers:: MONDO: MONDO:0007472; MedGen: C0730295; Orphanet: 75376; OMIM: 126700

Name:: Factor H deficiency (CFHD)
Synonyms:: COMPLEMENT FACTOR H DEFICIENCY; CFH DEFICIENCY
Identifiers:: MONDO: MONDO:0012350; MedGen: C0398777; OMIM: 609814

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

Name:: Age related macular degeneration 4
Identifiers:: MONDO: MONDO:0012540; MedGen: C1853147; OMIM: 610698

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002792357	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 8, 2022)	unknown	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

SCV002792357

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 8, 2022)

unknown

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	unknown	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 Fulgent Genetics, Fulgent Genetics, SCV002792357.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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Relating variation to medicine