TSC1 M322T - GET-Evidence

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

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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 -


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

  • 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)



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




Other external references

  • rs1073123
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
    Abstracts KS – Keynote Speeches LS – Lunch Seminar S1 – Symposium on "Medical Genetics I" S2 – Symposium on "Developmental Genetics & Genomics" S3 – Symposium on " ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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