CYP11B1 A386V - GET-Evidence

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CYP11B1 A386V

(CYP11B1 Ala386Val)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

The variant has been reported causative for congenital adrenal hyperplasia, but a later report reclassifies it as a benign polymorphism after it was seen in one control.

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


Insufficiently evaluated benign

(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 @ chr8:143956693: 2.2% (238/10758) in EVS
  • A @ chr8:143953694: 5.9% (7/118) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (238/10758)


Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler GB Jr. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab. 1998 Jan;83(1):270-3. PubMed PMID: 9435454.

The variant is found in a control and labeled a polymorphism.

Lee HH, Won GS, Chao HT, Lee YJ, Chung BC. Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese. Clin Endocrinol (Oxf). 2005 Apr;62(4):418-22. PubMed PMID: 15807871.

The variant is found as part of a compound heterozygote in a 9yo Chinese individual with congenital adrenal hyperplasia.


GS18517 - var-GS18517-1100-36-ASM
het A @ chr8:143953695


Added in this revision:

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr8:143953695




Other external references

  • rs4541
  • GeneTests records for the CYP11B1 gene
    Familial Hyperaldosteronism Type 1
    11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
    Web search results (8 hits -- see all)
  • Unequal Crossing-Over between Aldosterone Synthase and 11 ...
    CYP11B1 and CYP11B2 are located on chromosome 8q24 approximately 45 kb apart ... The high similarity of CYP11B1 and CYP11B2 enabled two chromatids to ...
  • Unequal Crossing-Over between Aldosterone Synthase and 11 ...
    tations on CYP11B1 are distributed over the entire coding. region, but cluster in exons 2, ... In humans CYP11B1 and CYP11B2 are. encoded by two genes, which lie tandemly arranged ...
  • Supplementary Table xls.3
    CYP11B1. 1584. 8. 143953695. NM_000497. NP_000488. C/T. A386V. minus. 8047. 504 ... CYP11B1. 1584. 8. 143953695. NM_000497. NP_000488. C/T. A386V. minus. 8084. 504 ...
  • Table 1 Text
    B, polypeptide 1" 266 rs4534 CYP11B1 1584 8 143958104 NM_000497 NP_000488 A/G ... 273 rs4541 CYP11B1 1584 8 143953695 NM_000497 NP_000488 C/T A386V minus 8047 504 ...
  • Functional nsSNPs from carcinogenesis-related genes expressed ...
    CYP11B1. NM_000497.2. rs4541. A386V. g. cg/g. tg. cA. Po. ssibly. damaging. PH ... ossibly. damaging. PH. CYP11B1. NM_000497.2. rs5294. Y439H. tac/ cac. tY. Pr. obably ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

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Gene search

"GENE" or "GENE A123C":

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