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NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys) AND Atypical hemolytic-uremic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 21, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328247.1

Allele description [Variation Report for NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys)]

NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys)

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.3647C>A (p.Thr1216Lys)
HGVS:
  • NC_000001.11:g.196747264C>A
  • NG_007259.1:g.100254C>A
  • NM_000186.4:c.3647C>AMANE SELECT
  • NP_000177.2:p.Thr1216Lys
  • LRG_47t1:c.3647C>A
  • LRG_47:g.100254C>A
  • NC_000001.10:g.196716394C>A
  • NM_000186.3:c.3647C>A
Protein change:
T1216K
Links:
dbSNP: rs1653050051
NCBI 1000 Genomes Browser:
rs1653050051
Molecular consequence:
  • NM_000186.4:c.3647C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atypical hemolytic-uremic syndrome
Synonyms:
Atypical HUS
Identifiers:
MONDO: MONDO:0016244; MedGen: C2931788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449225Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Feb 21, 2019) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449225.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is heterozygous for the c.3647C>A variant in the CFH gene, which results in the amino acid substitution of threonine to lysine at residue 1216, p.(Thr1216Lys). The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and MutationTaster suggest that this variant does not affect protein function and is likely to be benign. However, this analysis alone cannot be used to exclude pathogenicity. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines. (Evidence used: PM2, BP4)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022