C3, IVS38AS, A-G

C3, IVS38AS, A-G

Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3-p13.2
Other names:
  • C3, IVS38AS, A-G
  • IVS38AS, A-G
Links:
OMIM: 120700.0009

Clinical significance

C3, IVS38AS, A-G

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Oct 22, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000038876

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In a 22-year-old Japanese male patient with C3 deficiency (613779) and systemic lupus erythematosus, born of consanguineous parents, Tsukamoto et al. (2005) identified a homozygous A-to-G transition in the acceptor site of intron 38 of the C3 gene, resulting in skipping of exon 39. Complement assay detected no C3 in serum and only a trace amount of C3 hemolytic activity. Both parents and 2 sibs were heterozygous for the mutation, and all had reduced levels of C3 hemolytic activity. The patient had suffered from photosensitivity, recurrent fever, and facial erythema from childhood. Expression of the mutant cDNA in COS-7 cells resulted retention of the molecule in the ER-Golgi intermediate compartment due to defective secretion. Tsukamoto et al. (2005) concluded that SLE or an SLE-like disease is a complication of hereditary homozygous C3 deficiency in Japan.

Last Updated: Jun 28, 2014

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