NOTCH2 E38K - 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 E38K

(NOTCH2 Glu38Lys)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: probably damaging 0.598
SIFT: Affect protein function
GVGD: GV 222.52; GD 39.90; Prediction: Class C0
Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.04);
PolyPhen=benign(0.107);
Condel=deleterious(0.811)
Mutation Tasting prediction: Disease causing, p value: 0.67980; Protein features (might be) affected (DOMAIN EGF-like 1 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 @ chr1:120572572: 30.5% (2000/6550) in EVS
  • T @ chr1:120374094: 16.7% (7/42) in GET-Evidence
  • Frequency shown in summary reports: 30.5% (2000/6550)

Publications
 

Genomes
 

 

 

 

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:120374095

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:120374095

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:120374095

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:120374095

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr1:120374095

 

Other external references
 

    dbSNP
  • rs61788901
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.875 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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