FANCM I1460V - 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:

FANCM I1460V

(FANCM Ile1460Val)


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 @ chr14:45650900: 7.3% (788/10746) in EVS
  • G @ chr14:44720649: 7.1% (9/126) in GET-Evidence
  • Frequency shown in summary reports: 7.3% (788/10746)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr14:45650900

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr14:45650900

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr14:45650900

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr14:45650900

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr14:45650900

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr14:45650900

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr14:45650900

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr14:45650900

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr14:44720650

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr14:44720650

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr14:44720650

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr14:44720650

 

Other external references
 

    dbSNP
  • rs78211950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.013 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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