IER5 P285S - 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:

IER5 P285S

(IER5 Pro285Ser)


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 @ chr1:181058891: 4.1% (436/10758) in EVS
  • T @ chr1:179325513: 2.5% (3/122) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr1:181058891

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr1:181058891

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr1:181058891

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr1:181058891

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr1:181058891

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:181058891

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr1:181058891

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:179325514

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:179325514

 

Other external references
 

    dbSNP
  • rs3747951
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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