NR5A1 D293N - 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.

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Curation:
Currentness:

NR5A1 D293N

(NR5A1 Asp293Asn)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the NR5A1 gene
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dys
    NR5A1-Related 46,XY DSD and 46,XY CGD
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR5A1
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • Mutations in NR5A1 Associated with Ovarian Insufficiency
    tation of NR5A1 causes 46,XY disorders of sex development, with or ... ment and function, we sequenced NR5A1 in four families with histories of both ...
    content.nejm.org/cgi/reprint/NEJMoa0806228.pdf
  • OMIM: 184757
    Thus, NR5A1 has a crucial role in adrenal gland formation in both sexes. ... transition in the NR5A1 gene, resulting in an asp293-to-asn (D293N) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+184757

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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