PCM1 R1251H - GET-Evidence

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

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PCM1 R1251H

(PCM1 Arg1251His)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs17514547
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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