LAMA2 V1138M - 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:

LAMA2 V1138M

(LAMA2 Val1138Met)


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 @ chr6:129635800: 9.2% (995/10758) in EVS
  • A @ chr6:129677492: 9.8% (12/122) in GET-Evidence
  • Frequency shown in summary reports: 9.2% (995/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr6:129635800

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr6:129635800

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:129635800

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr6:129677493

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:129677493

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr6:129677493

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr6:129677493

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:129677493

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:129677493

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:129677493

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr6:129677493

 

Other external references
 

    dbSNP
  • rs2306942
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • Blood -- Scan of 977 nonsynonymous SNPs in CLL4 trial ...
    Prepublished online as a Blood First Edition Paper on November 15, ... 2 P479S, ENPP5 V171I, SEMA3C V337M, GTF2E1 P366S, INHBC R322, LAMA2 V1138M, ZNF527 H181R, and BRCA2 T1915M. ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1625
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Blood -- Sellick et al. 111 (3): 1625 Table 3
    Sema domain, immunoglobulin domain, short basic domain, secreted ... LAMA2. V1138M. rs2306942. G. 378. 1.51. 1.04-2.18 .028. Interleukin-16 (lymphocyte ...
    bloodjournal.hematologylibrary.org/cgi/content-nw/full/...
  • Laminin alpha2 muscular dystrophy: genotype/phenotype studies ...
    Novel mutations in LAMA2 gene responsible for a severe phenotype of ... 3412G>A] p.[H3035QfsX4:V1138M] was detected, whereas her parents and another sibling were heterozygous ...
    lib.bioinfo.pl/pmid:9674786

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in