PIGR A580V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PIGR Ala580Val)

You are viewing an old version of this page that was saved on February 12, 2010 at 12:19pm by Abraham Rosenbaum.

Edited in this revision:

Short summary

This variant is associated with with immunoglobulin A nephropathy (IgAN) in Japanese population.

Variant evidence
Computational 1

Gene associated with disease

See Obara W et al. 2003 (12740691).

Functional -
Case/Control 3

OR = 2.71

See Obara W et al. 2003 (12740691).

Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr1:207106478: 24.8% (2663/10758) in EVS
  • A @ chr1:205173100: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 24.8% (2663/10758)


Obara W, Iida A, Suzuki Y, Tanaka T, Akiyama F, Maeda S, Ohnishi Y, Yamada R, Tsunoda T, Takei T, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Nitta K, Miyano S, Narita I, Gejyo F, Nihei H, Fujioka T, Nakamura Y. Association of single-nucleotide polymorphisms in the polymeric immunoglobulin receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patients. J Hum Genet. 2003;48(6):293-9. Epub 2003 May 10. PubMed PMID: 12740691.

In a study of 389 Japanese individuals with immunoglobulin A nephropathy (IgAN) and 465 controls, this variant was found to associate with disease with an OR of 2.7. This variant is in the secretory component, but biopsies showed no correlation with immunoglobulin A levels.


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:207106478












Other external references

  • rs291102
  • Score: 0.001 (benign)

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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