CPN2 A305T - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CPN2 A305T

(CPN2 Ala305Thr)


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 @ chr3:194062519: 32.6% (3512/10758) in EVS
  • T @ chr3:195544213: 34.4% (44/128) in GET-Evidence
  • Frequency shown in summary reports: 32.6% (3512/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr3:194062519

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr3:194062519

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr3:194062519

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr3:194062519

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr3:194062519

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr3:194062519

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr3:194062519

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr3:194062519

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr3:194062519

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr3:194062519

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr3:194062519

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr3:194062519

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr3:194062519

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr3:194062519

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr3:194062519

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr3:194062519

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr3:194062519

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr3:194062519

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr3:194062519

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr3:194062519

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr3:195544214

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr3:195544214

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr3:195544214

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr3:195544214

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr3:195544214

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr3:195544214

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr3:195544214

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr3:195544214

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:195544214

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr3:195544214

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr3:195544214

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr3:195544214

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr3:195544214

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr3:195544214

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr3:195544214

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr3:195544214

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr3:195544214

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:195544214

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr3:195544214

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr3:195544214

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr3:195544214

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr3:195544214

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr3:195544214

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr3:195544214

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr3:195544214

 

NA12878

 

Other external references
 

    dbSNP
  • rs3732477
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CPN2 gene
    Corticosterone Methyloxidase Type I Deficiency
    Familial Hyperaldosteronism Type 1
    Familial Hypoaldosteronism Type 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPN2
    PolyPhen-2
  • Score: 0.005 (benign)
    Web search results (3 hits -- see all)
  • Type III 98%
    ... I, common mutation, dbSNP:rs5030804) 8956040 CPN2 P22792 W509R 507 VAR_019720 ... CAMKL (0.585) CK1 (0.745) GSK (0.928) GA-I CPN2 P22792 A305T 317 VAR_019722 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 97%
    ... mutation, dbSNP:rs5030804) 8956040 CPN2 P22792 W509R 507 VAR_019720 ... OI-II 7961597 CPN2 P22792 A305T 317 VAR_019722 CAMKL (0.590) STE20 (0.903) GSK (0.993) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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