TSC1 M322T - GET-Evidence

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

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Curation:
Currentness:

TSC1 M322T

(TSC1 Met322Thr)


Short summary

 

Variant evidence
Computational -1

PolyPhen-2 predicts TSC1=M322T to be BENIGN with a score of 0.000 (sensitivity: 1.00; specificity: 0.00)

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

  • G @ chr9:135786904: 16.7% (1799/10758) in EVS
  • G @ chr9:134776724: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1799/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr9:135786904

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr9:135786904

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr9:135786904

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr9:135786904

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr9:135786904

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr9:135786904

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr9:135786904

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr9:135786904

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr9:135786904

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr9:135786904

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr9:134776725

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr9:134776725

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr9:134776725

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr9:134776725

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr9:134776725

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr9:134776725

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:134776725

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr9:134776725

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr9:134776725

 

NA12878

 

Other external references
 

    dbSNP
  • rs1073123
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (11 hits -- see all)
  • AceView: Gene:TSC1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=TSC1
  • Molecular genetic and phenotypic analysis reveals differences ...
    ... least in part, explains the relative paucity of TSC1 mutations in sporadic TSC. ... not been reported at the TSC1 locus, and the TSC1 gene was only identified after ...
    hmg.oxfordjournals.org/cgi/content/full/6/12/2155
  • BioMed Central | Full text | Involvement of TSC genes and ...
    ... and microsatellite markers from the TSC1, TSC2 and PTEN candidate regions. ... sclerosis 1 (TSC1), have been placed as a complex in the mTOR signaling pathway ...
    www.biomedcentral.com/1471-2407/8/163
  • Involvement of TSC genes and differential expression of other ...
    ... and microsatellite markers from the TSC1, TSC2 and PTEN candidate regions. ... sclerosis 1 (TSC1), have been placed as a complex in the mTOR signaling pathway ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2430211/?tool=pubmed
  • BMC Cancer
    ... the role of the tumor suppressor genes, TSC1 and TSC2, and other members of this ... PCR analysis showed downregulation of TSC1, TSC2, EIF4EBP1 and PTEN, and ...
    www.biomedcentral.com/content/pdf/1471-2407-8-163.pdf
  • MEDICAL GENETICS ABSTRACT AND KEYNOTE SPEECH
    Abstracts KS – Keynote Speeches LS – Lunch Seminar S1 – Symposium on "Medical Genetics I" S2 – Symposium on "Developmental Genetics & Genomics" S3 – Symposium on " ...
    docstoc.com/docs/893780/MEDICAL-GENETICS-ABSTRACT-AND-KEY...
  • 10 10
    Tuberin, the protein product of the TSC2 gene and hamartin, the TSC1 ... heterozygous changes, M322T (1186T-C) and E445 (1556A-G), that are known TSC1 polymorphisms (http://zk. ...
    igitur-archive.library.uu.nl/dissertations/.../c10.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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