PALB2 Q559R - 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:

PALB2 Q559R

(PALB2 Gln559Arg)


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

  • C @ chr16:23646191: 13.5% (1457/10758) in EVS
  • C @ chr16:23553691: 10.5% (13/124) in GET-Evidence
  • Frequency shown in summary reports: 13.5% (1457/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr16:23646191

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr16:23646191

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr16:23646191

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr16:23646191

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr16:23646191

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr16:23646191

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr16:23553692

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr16:23553692

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr16:23553692

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr16:23553692

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr16:23553692

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr16:23553692

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr16:23553692

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr16:23553692

 

Other external references
 

    dbSNP
  • rs152451
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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