ATM D1853N - GET-Evidence

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

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Curation:
Currentness:

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ATM D1853N

(ATM Asp1853Asn)


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Short summary

 

Variant evidence
Computational 3

PolyPhen2: Possibly damaging 0.672
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 23.01; Class C15
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.4);
PolyPhen=possibly_damaging(0.69);
Condel=deleterious(0.684)
Mutation Tasting Prediction: Polymorphism, P value: 0.647186; protein features (might be) affected.

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

  • A @ chr11:108175462: 10.0% (1077/10758) in EVS
  • A @ chr11:107680671: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1077/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr11:108175462

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr11:108175462

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr11:108175462

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het A @ chr11:108175462

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr11:108175462

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr11:108175462

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr11:107680672

 

Added in this revision:

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr11:108175462

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr11:108175462

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr11:108175462

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr11:108175462

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr11:108175462

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr11:107680672

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr11:107680672

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr11:107680672

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr11:107680672

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr11:107680672

 

Other external references
 

    dbSNP
  • rs1801516
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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