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NM_000186.4(CFH):c.647T>C (p.Ile216Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 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:
RCV003346448.2

Allele description [Variation Report for NM_000186.4(CFH):c.647T>C (p.Ile216Thr)]

NM_000186.4(CFH):c.647T>C (p.Ile216Thr)

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.647T>C (p.Ile216Thr)
HGVS:
  • NC_000001.11:g.196679650T>C
  • NG_007259.1:g.32640T>C
  • NM_000186.4:c.647T>CMANE SELECT
  • NM_001014975.3:c.647T>C
  • NP_000177.2:p.Ile216Thr
  • NP_001014975.1:p.Ile216Thr
  • LRG_47:g.32640T>C
  • NC_000001.10:g.196648780T>C
  • NM_000186.3:c.647T>C
Protein change:
I216T
Links:
dbSNP: rs183474263
NCBI 1000 Genomes Browser:
rs183474263
Molecular consequence:
  • NM_000186.4:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001014975.3:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004050836Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 25, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.

Gnappi E, Allinovi M, Vaglio A, Bresin E, Sorosina A, Pilato FP, Allegri L, Manenti L.

Pediatr Nephrol. 2012 Oct;27(10):1995-9. doi: 10.1007/s00467-012-2210-0. Epub 2012 Jun 5.

PubMed [citation]
PMID:
22669321

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Duvvari MR, Saksens NT, van de Ven JP, de Jong-Hesse Y, Schick T, Nillesen WM, Fauser S, Hoefsloot LH, Hoyng CB, de Jong EK, den Hollander AI.

Mol Vis. 2015;21:285-92.

PubMed [citation]
PMID:
25814826
PMCID:
PMC4360166
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV004050836.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.647T>C (p.I216T) alteration is located in exon 6 (coding exon 6) of the CFH gene. This alteration results from a T to C substitution at nucleotide position 647, causing the isoleucine (I) at amino acid position 216 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024