NSD1 M2250I - GET-Evidence

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

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Curation:
Currentness:

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NSD1 M2250I

(NSD1 Met2250Ile)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:44am by Genome Importing Robot.

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 @ chr5:176721119: 5.3% (567/10758) in EVS
  • A @ chr5:176653724: 7.3% (9/124) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (567/10758)

Publications
 

Genomes
 

Added in this revision:

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr5:176721119

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr5:176721119

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr5:176721119

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr5:176721119

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr5:176653725

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr5:176653725

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr5:176653725

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr5:176653725

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr5:176653725

 

Other external references
 

    dbSNP
  • rs35848863
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.168 (benign)
    Web search results (6 hits -- see all)
  • NSD1 Mutations Are the Major Cause of Sotos Syndrome and ...
    or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. ... of NSD1 are the major cause of Sotos syndrome and account for some ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • 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 ... Paternal/maternal, present in 1 sib with autism and 1 unaffected sib ...
    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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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