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This variant is causative for Benign Familial Hematuria (thin membrane basement disease). While this variant is benign, it is useful in differentiating glomerular hematuria from Alport Syndrome.
NBLOSUM=4, gene associated with disease, glycine mutations often causative for this disease.
See Wang YY et al. 2004 (14871398), unpublished research (below).
OR not significant
See Buzza M et al. 2003 (12631110), unpublished research (below).
Low clinical importance, Uncertain benign
(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
In the literature this variant was found associated with the phenotype in 3 symptomatic and one possibly symptomatic individual.
Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations
in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003
Feb;63(2):447-53. PubMed PMID: 12631110.
In a screen for mutations in COL4A4 in 48 patients (of all ethnicities) with Thin Membrane Basement Disease, this variant was seen in 2 individuals. These patients were confirmed to not have Alport Syndrome. This variant was seen in 1/48 controls who did not have a renal biopsy, so they may not be actual controls. Glycine mutations in type IV collagen chains are often pathogenic, and pathogenicity cannot be excluded. The authors classify this as p. pathogenic. OR=2.
Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their
clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int.
2004 Mar;65(3):786-90. PubMed PMID: 14871398.
In a screen for mutations in COL4A3 and the COL4A3/COL4A4 promoter in 62 patients (of unreported ethnicities) with Thin Membrane Basement Disease, this variant was seen in one 30yo female along with the “known mutation” COL4A3 G695R. The COL4A3 variants were not seen in 50 controls, but it is not clear if this variant was sampled. The authors report that glycine mutations are typically causative for disease, but the status of this variant is not clear.
Added in this revision:
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr2:227915847