NSD1 M2250I - GET-Evidence

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

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NSD1 M2250I

(NSD1 Met2250Ile)

Short summary


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


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)



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


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr5:176721119


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
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

  • rs35848863
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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