NOTCH2 L1413H - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

NOTCH2 L1413H

(NOTCH2 Leu1413His)


You are viewing the latest version of this page, saved on November 29, 2012 at 5:18am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.033
SIFT: Tolerated 0.09
GVGD: GV 0.00; GD 98.69; Class C65
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.13);
PolyPhen=benign(0.033);
Condel=deleterious(0.741)
Mutation Tasting Prediction: Polymorphism, P value: 0.820562; protein features (might be) affected (aa 26-1677 TOPO_DOM Extracellular (potential) gets lost)

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 @ chr1:120468201: 0.3% (35/10754) in EVS
  • Frequency shown in summary reports: 0.3% (35/10754)

Publications
 

Genomes
 

Added in this revision:

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr1:120468201

 

rs41313282
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs41313282

Other external references
 

    dbSNP
  • rs41313282
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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