PTCH1 T1195S - GET-Evidence

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

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Curation:
Currentness:

PTCH1 T1195S

(PTCH1 Thr1195Ser)


Short summary

94 chromosomes studied, and found 4% het for this variant. Concluded that it is a benign polymorphism as of 9/2003.

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 @ chr9:98211572: 4.1% (436/10610) in EVS
  • A @ chr9:97251392: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10610)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr9:98211572

 

 

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr9:97251393

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr9:97251393

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr9:97251393

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr9:97251393

 

Other external references
 

    dbSNP
  • rs2236405
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PTCH1 gene
    Holoprosencephaly
    Nevoid Basal Cell Carcinoma Syndrome
    PTCH1-Related Holoprosencephaly
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTCH1
    PolyPhen-2
  • Score: 0.063 (benign)
    Web search results (10 hits -- see all)
  • The Patched Receptor: Switching On/Off the Hedgehog Signaling ...
    PTCH1 and PTCH2 proteins are expressed differentially during the development of ... in PTCH1 result in protein truncation.24 The spectrum of human PTCH1 mutations ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=eurekah&part=A44405
  • Molecular characterization of Italian Gorlin Syndrome patients
    p.T1195S. T: 0% 23. BCC2,BCC7,NB11,NB15,NB19,NB23. c.3944C>T. p.P1315L T: ... that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a ...
    www3.interscience.wiley.com/homepages/38515/pdf/788.pdf
  • Type III 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • Type III 98%
    ... 10408779 PTCH1 Q13635 T1195S 1195 VAR_020440 CMGC (0.932) CDK (0.949) GSK (0.934) MAPK (0.972) CAMK (0.722) CAMKL (0.642) CAMK2 (0.829) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_98.txt
  • Journal of Dental Research
    T1195S. 23. 3944T>C. L1315P. Non-syndromic-cyst #2. 20/F. 14. 2199A>G. S733S ... Spectrum of PTCH1 mutations in French patients. with Gorlin syndrome. J Invest Dermatol ...
    jdr.sagepub.com/cgi/reprint/85/9/859.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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