NSD1 V614L - 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:

NSD1 V614L

(NSD1 Val614Leu)


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 @ chr5:176637240: 10.2% (1094/10758) in EVS
  • T @ chr5:176569845: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 10.2% (1094/10758)

Publications
 

Genomes
 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr5:176637240

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr5:176637240

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr5:176637240

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:176637240

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr5:176637240

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr5:176569846

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr5:176569846

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr5:176569846

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr5:176569846

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr5:176569846

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr5:176569846

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr5:176569846

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr5:176569846

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr5:176569846

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr5:176569846

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr5:176569846

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr5:176569846

 

NA12878

 

Other external references
 

    dbSNP
  • rs3733875
    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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