CYP11B2 V386A - GET-Evidence

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

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Curation:
Currentness:

CYP11B2 V386A

(CYP11B2 Val386Ala)


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

  • G @ chr8:143994266: 6.3% (682/10756) in EVS
  • G @ chr8:143991267: 2.9% (3/104) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (682/10756)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr8:143994266

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr8:143994266

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr8:143994266

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr8:143994266

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr8:143994266

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr8:143994266

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr8:143991268

 

Other external references
 

    dbSNP
  • rs61757294
    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 (benign)
    Web search results (146 hits -- see all)
  • Isolated aldosterone synthase deficiency caused by ...
    These patients usually have a CYP11B2 enzyme with some residual enzymatic activity, ... Their CYP11B2 genes are homozygous for three sequence changes, R173K, E198D, and V386A. ...
    www.ncbi.nlm.nih.gov/pubmed/9814506
  • Mutations in the human CYP11B2 (aldosterone synthase) gene ...
    Mutations in the human CYP11B2 (aldosterone synthase) gene causing ... but two candidate mutations, R181W and V386A, were found in the CYP11B2 genes. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC49215/?tool=pubmed
  • Isolated Aldosterone Synthase Deficiency Caused by ...
    Their CYP11B2 genes are homozygous for three sequence changes, R173K, E198D, and V386A. ... This disparity between the CYP11B2 enzyme with residual activity and ...
    jcem.endojournals.org/cgi/content/full/83/11/4156
  • Isolated Aldosterone Synthase Deficiency Caused by ...
    mutations that completely inactivate the encoded CYP11B2 enzyme. The second form (CMO II ... tions V386A or E198D encoded enzymes able to catalyze the. synthesis of aldosterone, ...
    jcem.endojournals.org/cgi/reprint/83/11/4156.pdf
  • Aldosterone synthase deficiency type I with no documented ...
    carry any homozygous mutation in the entire CYP11B2 alleles, whereas some cases with no ... mutations in the CYP11B2 gene (V386A, R173K and. E198D) have been ...
    www.eje-online.org/cgi/reprint/144/1/59.pdf
  • GeneCanvas
    Polymorphisms in the 5' region are numbered either from the start of transcription or ... CYP11B2/T-344C. CYP11B2/V386A. CYP1A1/I462V. CYP1A1/T+1189C. CYP2E1/Dra1 ...
    genecanvas.idf.inserm.fr/infusions/.../PolymorphismsList.php
  • Congenital Hyperreninemic Hypoaldosteronism in Israel ...
    tations (R181W and V386A). In a few cases with pre- sumed aldosterone synthase defi ciency ... variations in CYP11B2. coding regions and 1,000 bp promoter. Congenital ...
    www.science.co.il/aaron/Hypoaldosteronism-2006.pdf
  • Mendelian Inheritance in Man Document Reader
    Kawamoto et al. (1992) isolated the CYP11B2 gene from a human genomic DNA library. ... Their CYP11B2 genes were homozygous for 3 sequence changes: V386A, arg173 to lys (found ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+124080
  • Congenital Hyperreninemic Hypoaldosteronism in Israel ...
    CYP11B2's exons, exon-intron boundaries and promoter region were sequenced by multiple ... V386A mutations, other two were compound heterozygotes for either the R181W or V386A ...
    content.karger.com/ProdukteDB/produkte.asp?...
  • Molecular genetic study in two patients with congenital ...
    Genetic defects in the gene CYP11B2 encoding aldosterone synthase have been ... V386A (GTG to GCG) in exon 7 of the CYP11B2 gene. There were no other mutations within ...
    www.eje-online.org/cgi/reprint/139/1/96.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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