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NM_000064.4(C3):c.193A>C (p.Lys65Gln) AND Atypical hemolytic-uremic syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 2018
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:
RCV001328274.2

Allele description [Variation Report for NM_000064.4(C3):c.193A>C (p.Lys65Gln)]

NM_000064.4(C3):c.193A>C (p.Lys65Gln)

Gene:
C3:complement C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
HGVS:
  • NC_000019.10:g.6719285T>G
  • NG_009557.1:g.6367A>C
  • NM_000064.4:c.193A>CMANE SELECT
  • NP_000055.2:p.Lys65Gln
  • LRG_27:g.6367A>C
  • NC_000019.9:g.6719296T>G
  • NM_000064.3:c.193A>C
Protein change:
K65Q
Links:
dbSNP: rs539992721
NCBI 1000 Genomes Browser:
rs539992721
Molecular consequence:
  • NM_000064.4:c.193A>C - 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
SCV001449196Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Aug 28, 2018) 		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, SCV001449196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a known pathogenic variant, c.193A>C (p.Lys65Gln), in the C3 gene. This variant (dbSNP: rs539992721) has been reported in the Exome Aggregation Consortium (ExAC) database (http://exac.broadinstitute.org/) with a very low allele frequency of 0.006% (7/121402 alleles). This variant is reported in the C3 aHUS mutation database (www.fh-hus.org/) including three atypical haemolytic uremic syndrome (aHUS) patients whom acquired the illness as an adult, with first aHUS episode after renal transplantation or suffered recurrence of the disease after renal transplantation (Volokhina et al 2012 Pediatr Nephrol 27:1519-1524). The authors also performed functional studies which showed the C3 mutant protein decreases C3b binding to CFH in vitro.

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

Last Updated: Oct 8, 2024