PALB2 L337S - 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 L337S

(PALB2 Leu337Ser)


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

  • G @ chr16:23646857: 1.5% (157/10756) in EVS
  • G @ chr16:23554357: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (157/10756)

Publications
 

Genomes
 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr16:23646857

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr16:23554358

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr16:23554358

 

Other external references
 

    dbSNP
  • rs45494092
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.761 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in