BLM T298M - 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.

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Curation:
Currentness:

BLM T298M

(BLM Thr298Met)


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 @ chr15:91295110: 0.1% (6/10756) in EVS
  • T @ chr15:89096113: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (6/10756)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr15:91295110

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr15:89096114

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr15:89096114

 

Other external references
 

    dbSNP
  • rs28384991
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... carcinoma 10435629 12000790 12114015 11818547 BLM P54132 T298M 298 VAR_022296 CK1 (0.644) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Duncans in WI
    http://www.glorecords.blm.gov "Territorial Papers, Michigan Territory, ... (Memphis Public Library book 929.375 T298m; from Evelyn Sigler 2/1985; FHL book ...
    homepages.rootsweb.ancestry.com/~dobson/wi/wimisc.htm

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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