NSD1 S726P - GET-Evidence

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

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Curation:
Currentness:

NSD1 S726P

(NSD1 Ser726Pro)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial 5

Both my daughter and myself share this variant.

 
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

 

show discussion

Discussion

While my daughter and I who share this variant exhibit no signs of Sotos syndrome, I have another daughter who has Sotos syndrome. She has been proven to have it both clinically and by her NSD1 gene. I do not know if her variation matches ours, but I remember it being a deletion, so I doubt it. This makes me wonder about possible carriers of Sotos, even though the doctors currently believe there are no carriers.

Allele frequency

  • C @ chr5:176637576: 12.9% (1388/10758) in EVS
  • C @ chr5:176570181: 23.4% (30/128) in GET-Evidence
  • Frequency shown in summary reports: 12.9% (1388/10758)

Publications
 

Genomes
 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr5:176637576

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr5:176637576

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr5:176637576

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr5:176637576

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr5:176637576

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr5:176637576

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr5:176570182

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr5:176570182

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr5:176570182

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr5:176570182

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr5:176570182

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr5:176570182

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr5:176570182

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr5:176570182

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr5:176570182

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr5:176570182

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr5:176570182

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr5:176570182

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr5:176570182

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr5:176570182

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr5:176570182

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr5:176570182

 

NA12878

 

Other external references
 

    dbSNP
  • rs28932178
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.92 (probably damaging)
    Web search results (10 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
  • View unique variants - LOVD - Leiden Open Variation Database ...
    p.(S726P) NSD1_00043. 05. c.2323C>T. r.(?) p.(Q775X) de novo, in patient ... Protein: Protein Origin: Origin NSD1 DB-ID: Database IDentifier; When ...
    chromium.liacs.nl/LOVD2/variants.php?...&select_db=NSD1
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs9671369) 14702039 NSD1 Q96L73 Y1997C 1997 VAR_015788 PDGFR ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 98
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs9671369) 14702039 NSD1 Q96L73 Y1997C 1997 VAR_015788 PDGFR ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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