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NM_000186.4(CFH):c.1352C>G (p.Ser451Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 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:
RCV002856874.3

Allele description [Variation Report for NM_000186.4(CFH):c.1352C>G (p.Ser451Ter)]

NM_000186.4(CFH):c.1352C>G (p.Ser451Ter)

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.1352C>G (p.Ser451Ter)
HGVS:
  • NC_000001.11:g.196713750C>G
  • NG_007259.1:g.66740C>G
  • NM_000186.4:c.1352C>GMANE SELECT
  • NP_000177.2:p.Ser451Ter
  • NP_000177.2:p.Ser451Ter
  • LRG_47t1:c.1352C>G
  • LRG_47:g.66740C>G
  • LRG_47p1:p.Ser451Ter
  • NC_000001.10:g.196682880C>G
  • NM_000186.3:c.1352C>G
Protein change:
S451*
Molecular consequence:
  • NM_000186.4:c.1352C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003222217Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 31, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, Tielemans CL, Goodship JA, Goodship TH.

Am J Hum Genet. 2001 Feb;68(2):485-90. Epub 2001 Jan 17.

PubMed [citation]
PMID:
11170896
PMCID:
PMC1235281

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L.

J Am Soc Nephrol. 2004 Mar;15(3):787-95.

PubMed [citation]
PMID:
14978182
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003222217.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser451*) in the CFH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFH are known to be pathogenic (PMID: 11170896, 14978182, 16621965, 23870792, 25188723).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024