PTCH1 P1315L - GET-Evidence

Curation:
Currentness:

PTCH1 P1315L

(PTCH1 Pro1315Leu)


Short summary

Common polymorphism, presumed benign.

Variant evidence
Computational -1

Polyphen 2 predict damaging effect

Functional -
Case/Control 5

High allele frequency implies no significant pathogenic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" 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 @ chr9:98209594: 29.6% (3100/10462) in EVS
  • A @ chr9:97249414: 35.2% (45/128) in GET-Evidence
  • Frequency shown in summary reports: 29.6% (3100/10462)

Publications
 

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005 Mar;25(3):322-3. PubMed PMID: 15712338.

This variant is listed as a polymorphism in the paper.

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr9:98209594

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr9:98209594

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr9:98209594

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr9:98209594

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr9:98209594

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr9:98209594

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr9:98209594

 

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr9:97249415

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr9:97249415

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr9:97249415

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr9:97249415

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr9:97249415

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr9:97249415

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr9:97249415

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr9:97249415

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr9:97249415

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr9:97249415

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr9:97249415

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr9:97249415

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr9:97249415

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr9:97249415

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr9:97249415

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr9:97249415

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr9:97249415

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr9:97249415

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr9:97249415

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr9:97249415

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr9:97249415

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr9:97249415

 

Other external references
 

    dbSNP
  • rs357564
    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: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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