PCM1 R1251H - GET-Evidence

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

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Curation:
Currentness:

PCM1 R1251H

(PCM1 Arg1251His)


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 @ chr8:17830005: 2.1% (206/9632) in EVS
  • A @ chr8:17874284: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (206/9632)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr8:17830005

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr8:17830005

 

 

 

 

 

 

Other external references
 

    dbSNP
  • rs17514547
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.986 (probably damaging)
    Web search results (4 hits -- see all)
  • PCM1 Gene - GeneCards | PCM1 Protein | PCM1 Antibody
    PCM1 Gene in genomic location: bands according to Ensembl, locations ... for PCM1 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=PCM1
  • Pericentriolar material 1 protein - Homo sapiens (Human)
    A chromosomal aberration involving PCM1 is found in thyroid papillary carcinoma ... A chromosomal aberration involving PCM1 is found in a variety of ...
    www.uniprot.org/uniprot/Q15154
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • UniProt: Q15154
    CC -!- DISEASE: A chromosomal aberration involving PCM1 is found in a CC variety of ... PCM1-JAK2 fusion protein. FT SITE 1369 1370 Breakpoint for translocation to form FT PCM1 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q15154

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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