NSD1 A691T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

NSD1 A691T

(NSD1 Ala691Thr)


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

  • A @ chr5:176637471: 1.8% (199/10758) in EVS
  • A @ chr5:176570076: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (199/10758)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr5:176637471

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr5:176570077

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr5:176570077

 

Other external references
 

    dbSNP
  • rs28932177
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)
    Web search results (8 hits -- see all)
  • European Journal of Human Genetics - Mutations in NSD1 are ...
    The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short ...
    www.nature.com/ejhg/journal/v11/n11/full/5201050a.html
  • Table 1
    Sequence variants identified in the NSD1 gene in 88 patients with autism ... A691T. 5 G/A. rs28932177. c.2176TC. S726P. 22 T/C, 2 C/C. rs28932178. c.2465CG. S822C. 1 C/G ...
    www.biomedcentral.com/1471-2350/8/68/table/T1
  • Mutation analysis of the NSD1 gene in patients with autism ...
    We screened the NSD1 gene for mutations and deletions in 88 patients ... Dosage analysis of NSD1 was carried out using multiplex ligation-dependent probe ...
    biomedcentral.com/content/download/xml/1471-2350-8-68.xml
  • NSD1 Mutations Are the Major Cause of Sotos Syndrome and ...
    or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. ... syndrome had NSD1 mutations, all between amino acids 2142 and 2184. ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • View unique variants - LOVD - Leiden Open Variation Database ...
    Legend: [ NSD1 full legend ] Sequence variations are described basically as recommended ... change: Protein Origin: Origin NSD1 DB-ID: Database IDentifier; When ...
    chromium.liacs.nl/LOVD2/variants.php?...&select_db=NSD1
  • BMC Medical Genetics
    Methods: We screened the NSD1 gene for mutations and deletions in 88 ... Dosage analysis of NSD1 was carried out using multiplex ligation-dependent probe ...
    www.hal.inserm.fr/docs/00/27/64/38/PDF/1471-2350-8-68.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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