NSD1 A1036P - GET-Evidence

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

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NSD1 A1036P

(NSD1 Ala1036Pro)

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

  • 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)



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

  • rs28932179
  • 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 ...
  • 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. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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