PDGFRA S478P - GET-Evidence

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

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Curation:
Currentness:

PDGFRA S478P

(PDGFRA Ser478Pro)


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

  • C @ chr4:55139771: 14.5% (1557/10758) in EVS
  • C @ chr4:54834527: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 14.5% (1557/10758)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr4:55139771

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr4:55139771

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr4:55139771

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr4:54834528

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr4:54834528

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr4:54834528

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr4:54834528

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr4:54834528

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr4:54834528

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr4:54834528

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr4:54834528

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr4:54834528

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr4:54834528

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr4:54834528

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr4:54834528

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr4:54834528

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr4:54834528

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr4:54834528

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr4:54834528

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr4:54834528

 

Other external references
 

    dbSNP
  • rs35597368
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Molecular pathogenesis of multiple gastrointestinal stromal ...
    KIT and PDGFRA activating mutations are the oncogenic mechanisms in ... UTR region of both KIT and PDGFRA and one mis- sense mutation in exon 10 of PDGFRA (p.S478P) that was ...
    hmg.oxfordjournals.org/cgi/reprint/15/6/1015.pdf
  • Molecular pathogenesis of multiple gastrointestinal stromal ...
    KIT and PDGFRA activating mutations are the oncogenic mechanisms in most sporadic GISTs. ... PDGFRA and one missense mutation in exon 10 of PDGFRA (p.S478P) that ...
    hmg.oxfordjournals.org/cgi/content/full/15/6/1015
  • Multiple Gastrointestinal Stromal and Other Tumors Caused by ...
    The known PDGFRA polymorphisms S478P and IVS17–50delA, and 2472C>T in exons 10 and 18, respectively, were identified in both patients' and normal ...
    jcem.endojournals.org/cgi/content/full/92/9/3728
  • Type II- 97%
    ... Polymorphism (dbSNP:rs3024678) COL4A5 P29400 W1538S 1535 VAR_001969 PDGFR (0.610) ... PIKK (0.852) Alabama 1115799 PDGFRA P16234 S478P 474 VAR_034378 GSK (0.819) Polymorphism ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type II- 95%
    ... JakA (0.612) SERPING1 P05155 R466H 463 VAR_007020 PKC (0.668) HAE, ... HBB P68871 Q40K 39 VAR_002928 PIKK (0.852) Alabama 1115799 PDGFRA P16234 S478P 474 VAR_034378 GSK (0.819) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Reviews Professor Legius
    KIT and PDGFRA activating mutations are the oncogenic mechanisms in most sporadic GISTs. ... PDGFRA and one missense. mutation in exon 10 of PDGFRA (p.S478P) that ...
    leoenwilna.mijnvrouw.nl/homepage/show/pagina.php?...
  • Multiple Gastrointestinal Stromal and Other Tumors Caused by ...
    somatic or germline mutations of the KIT and PDGFRA genes, but ... PDGFRA polymorphisms S478P and IVS17–50delA, and. 2472C T in exons 10 and 18, respectively, were identified in ...
    pediatricgist.cancer.gov/pdf/articlesDrStratakis/...

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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