NSD1 A1036P - GET-Evidence

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

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Curation:
Currentness:

NSD1 A1036P

(NSD1 Ala1036Pro)


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

  • C @ chr5:176638506: 2.6% (284/10758) in EVS
  • C @ chr5:176571111: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (284/10758)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr5:176638506

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr5:176571112

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr5:176571112

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr5:176571112

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr5:176571112

 

Other external references
 

    dbSNP
  • rs28932179
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (4 hits -- see all)
  • 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
  • Table 1
    Sequence variants identified in the NSD1 gene in 88 patients with autism ... A1036P. 5 G/C. rs28932179. c.3705TC. N1235N. 13 T/C. rs28932181. Exon 10. c.4496AG. E1499G. 1 A/G ...
    www.biomedcentral.com/1471-2350/8/68/table/T1

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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