CYP11B2 G435S - GET-Evidence

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

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Curation:
Currentness:

CYP11B2 G435S

(CYP11B2 Gly435Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr8:143994041: 2.2% (242/10758) in EVS
  • T @ chr8:143991042: 1.1% (1/94) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (242/10758)

Publications
 

Genomes
 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:143991043

 

Other external references
 

    dbSNP
  • rs4545
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CYP11B2 gene
    Corticosterone Methyloxidase Type I Deficiency
    Familial Hyperaldosteronism Type 1
    Familial Hypoaldosteronism Type 2
    11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B2
    PolyPhen-2
  • Score: 0.011 (benign)
    Web search results (6 hits -- see all)
  • Chapter 24. Aldosterone Deficiency and Resistance
    The CYP11B1 and CYP11B2 genes are located on the long arm of chromosome 8 and ... CMO II have homozygous missense mutation (G435S) in the exon 8 of CYP11B2 gene. ...
    www.endotext.org/adrenal/adrenal24/adrenal24.html
  • Endotext.com - Adrenal Physiology And Diseases, Aldosterone ...
    The CYP11B1 and CYP11B2 genes are located on the long arm of chromosome 8 and ... CMO II have homozygous missense mutation (G435S) in the exon 8 of CYP11B2 gene. ...
    www.endotext.org/adrenal/adrenal24/adrenalframe24.htm
  • Supplementary Table xls.3
    CYP11B2. 1585. 8. 143993541. NM_000498. NP_000489. A/G. K173R. minus. 8079. 504 ... CYP11B2. 1585. 8. 143991043. NM_000498. NP_000489. A/G. G435S. minus. 8089. 504 ...
    icr.ac.uk/research/research_sections/.../2845.xls
  • Table 1 Text
    ... 2" 281 rs4545 CYP11B2 1585 8 143991043 NM_000498 NP_000489 A/G G435S minus 6776 498 ... 2" 283 rs4545 CYP11B2 1585 8 143991043 NM_000498 NP_000489 A/G G435S minus 6529238 1303 ...
    icr.ac.uk/research/research_sections/.../2841.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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