MVK S52N - 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:

MVK S52N

(MVK Ser52Asn)


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

  • A @ chr12:110013879: 11.9% (1275/10758) in EVS
  • A @ chr12:108498261: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 11.9% (1275/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr12:110013879

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr12:110013879

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr12:110013879

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr12:110013879

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr12:110013879

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr12:110013879

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr12:110013879

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr12:110013879

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr12:110013879

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr12:110013879

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr12:110013879

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr12:110013879

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr12:108498262

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr12:108498262

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr12:108498262

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr12:108498262

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr12:108498262

 

Other external references
 

    dbSNP
  • rs7957619
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (25 hits -- see all)
  • European Journal of Human Genetics - MVK mutations and ...
    MVK mutations and associated clinical features in Italian patients affected with ... nucleotide polymorphisms (SNPs) already described (S52N and D170D),10 a c.405G> ...
    www.nature.com/ejhg/journal/v13/n3/full/5201323a.html
  • UNIVERSITA' DEGLI STUDI DI PADOVA
    a mutazioni del gene mvk, mappato sul cromosoma 12q24, il quale codifica per ... Polimorfismi nella mvk che provocano la perdita completa dell'attività dell' ...
    paduaresearch.cab.unipd.it/1905/1/GAVA.pdf
  • MEDLINE - Resultado página 1
    ... polymorphisms of the gene MVK in patients with autoinflammatory syndrome suspicion. ... performed in DNA extracted from PBMC and MVK gene was analysed either with DHPLC or with ...
    bases.bireme.br/cgi-bin/wxislind.exe/...&lang=p&base=MEDLINE
  • 1882_06_REUMA3_LAV_Gava:1813 01 REUMA3 Editoriale
    ... polymorphisms of the gene MVK in patients with autoinflammatory syndrome ... Molecular testing was performed in DNA extracted from PBMC and MVK gene was ...
    www.reumatismo.org/admin/filesArticoli/61-3-187.pdf
  • INFEVERS - Search Form
    See the list of MVK sequence variants. Extract data below (for multiple choices, use the ... S52N. exon 3. c.155G>A. p.Ser52Asn. No. 2002-02-05. 1245-1246INSG. 3UT. c. ...
    fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3&...
  • Munhwa-Bold
    ... CIDFontVersion 1.000 def /CIDFontType 0 def /CIDSystemInfo 3 dict dup ... 123 -257 986 883 ] def /UIDBase 1864100 def /XUID [1 11 1864100] def /FontInfo 8 dict dup ...
    www.gnu-darwin.org/distfiles/Munhwa-Bold
  • Type I- 95%
    sample, somatic mutation 16959974 MVK Q03426 S52N 52 VAR_010958 CAMK2 (0.715) ... 671) Polymorphism (dbSNP:rs2307289) MVK Q03426 T243I 243 VAR_010964 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • ARNES News arhiv / - crni teloh, tisa
    Nazaj na: [Glavno kazalo] [Tematsko kazalo] Urejeno po času. Urejeno ... From: "Bojana Česnik" <Bojana.Cesnik@xxxxxxxxxxxxxx> Date: Mon, 15 May 2000 11:50:54 ...
    arnes.si/news/archive/.../msg00045.html
  • Utilità della tecnica denaturing high performance liquid ...
    ... chinasi (MK); polimorfismi nel gene mvk sono la causa di un’alterata attività ... primers specifici per le sequenze dei 10 esoni codificanti del gene mvk. ...
    paduaresearch.cab.unipd.it/1905
  • Punzi, L (L)
    Punzi, L (L) :: Interrelationships between interleukin (IL)-1, IL-6 and IL-8 in synovial ... polymorphisms of the gene MVK in patients with autoinflammatory syndrome suspicion. ...
    lib.bioinfo.pl/auid:919986

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in