NSD1 S726P - 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!


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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


show 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)




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




Other external references

  • rs28932178
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in