HLCS E42D - GET-Evidence

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

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Curation:
Currentness:

HLCS E42D

(HLCS Glu42Asp)


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 @ chr21:38309619: 3.9% (415/10758) in EVS
  • A @ chr21:37231488: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (415/10758)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr21:38309619

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr21:37231489

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr21:37231489

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr21:37231489

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr21:37231489

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr21:37231489

 

Other external references
 

    dbSNP
  • rs61732504
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.14 (benign)
    Web search results (5 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    The consensus coding sequences of human breast and colorectal cancers. ... HLCS. p.E42D. HCC1008. MTMR8. p.W127R. HCC1008. LRRC41. p.Q100* HCC1008. MULK ...
    sanger.ac.uk/perl/genetics/CGP/...&id=1235076&pmid=16959974
  • Catalogue of Somatic Mutations in Cancer
    The consensus coding sequences of human breast and colorectal cancers. ... HLCS. p.E42D. HCC1008. INA. p.E110Q. HCC1008. KCNJ1. p.S115F. HCC1008. KEAP1. p.C23Y. HCC1008 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=16959974
  • New test for targeted therapy in acute myeloid leukemia
    Oregon Health & Science University Cancer Institute researcher Jeff Tyner, Ph.D., has created a way to identify proteins that are candidates for targeted therapy ...
    www.news-medical.net/news/2007/12/10/33392.aspx
  • Han, L (Lianshu)
    They were c.126G>T (E42D), c.1994G>C (R665P), c.1088T>A (V363D) and c.1522C>T (R508W) ... the HLCS gene are probably hot-spot mutations in Chinese children with HLCS deficiency. ...
    lib.bioinfo.pl/auid:7748326
  • "Qiu W "[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズに ...
    ` "Qiu W "[Author]` の検索結果です。- ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズにするWEBツール ... in the 8 children with HLCS deficiency. They were c.126G>T (E42D), c.1994G>C (R665P), c. ...
    www.atgcchecker.com/search/?search="Qiu+W+"[Author]

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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