NOTCH3 V1183M - GET-Evidence

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

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Curation:
Currentness:

NOTCH3 V1183M

(NOTCH3 Val1183Met)


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

  • T @ chr19:15290007: 9.1% (974/10756) in EVS
  • T @ chr19:15151006: 10.3% (13/126) in GET-Evidence
  • Frequency shown in summary reports: 9.1% (974/10756)

Publications
 

Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, Gider P, Enzinger C, Fornage M, Debette S, Rotter JI, Ikram MA, Launer LJ, Schmidt R; CHARGE consortium Neurology working group. Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain. 2011 Nov;134(Pt 11):3384-97. Epub 2011 Oct 17. PubMed PMID: 22006983; PubMed Central PMCID: PMC3212720.

this paper predicts V1183M to be functional, with other four (not the V1183M and V1952M), exclusively or mainly detected in subjects with severe white matter lesions, and V1183M not being exclusively present in such subjects.

Genomes
 

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:15151007

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr19:15151007

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:15151007

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr19:15151007

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr19:15151007

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr19:15151007

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr19:15151007

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr19:15151007

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr19:15151007

 

GS19703 - var-GS19703-1100-36-ASM
hom T @ chr19:15151007

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr19:15151007

 

Other external references
 

    dbSNP
  • rs10408676
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.053 (benign)
    Web search results (1 hit -- see all)
  • Poster Session
    The genetic diagnosis is confirmed when NOTCH3 gene mutations affecting cystein residues are found. ... p.A1020P in homozigoty (exon 19), p.S497L (exon 9) and p.V1183M (exon 22) ...
    www.esc-archive.eu/stockholm09/sto_s7_poster.asp

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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