AVPR2 R252W - GET-Evidence

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

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Curation:
Currentness:

AVPR2 R252W

(AVPR2 Arg252Trp)


Short summary

 

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

Impact

Insufficiently evaluated benign

(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

  • T @ chrX:153171714: 0.8% (73/8761) in EVS
  • Frequency shown in summary reports: 0.8% (73/8761)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.482 (possibly damaging)
    Web search results (8 hits -- see all)
  • Report of 33 Novel AVPR2 Mutations and Analysis of 117 ...
    can be inferred that when the same AVPR2 mutation is iden ... Two novel missense mutations, R252W and S318T, were. considered to be benign because they were identified on the ...
    jasn.asnjournals.org/cgi/reprint/11/6/1044.pdf
  • All Records
    [ AVPR2 ] [ Search ] [ Home ] AVPR2. mutations in order by common name. systematic name ... R252W. CIII. exon-2. missense. benign. CGG-to-TGG. Arg-to-Trp. Arthus2000 ...
    www.medicine.mcgill.ca/nephros/name.asp
  • All Records
    [ AVPR2 ] [ Search ] [ Home ] AVPR2. mutations in order by location in the gene. systematic ... R252W. CIII. exon-2. missense. benign. CGG-to-TGG. Arg-to-Trp. Arthus2000 ...
    www.medicine.mcgill.ca/nephros/Allrec.asp
  • ESHG Posters 17
    A Novel AVPR2 Mutation in a Kindred with Nephrogenic Diabetes Insipidus ... of PKU alleles: R158Q -4%, R261Q - 2%, G272X - 1%, R252W - 1%, IVS10nt - 1 ...
    www.medacad.org/eshg/abstracts/posters17.htm
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs34520315) AVPR2 P30518 S318T 315 VAR_015348 CAMKL (0.593) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 99%
    ... Polymorphism (dbSNP:rs9603422) PAH P00439 R252W 250 VAR_000958 PKC (0.938) IKK ... Polymorphism (dbSNP:rs11755182) AVPR2 P30518 R252W 255 VAR_015338 CDK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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