CYP19A1 R264C - GET-Evidence

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

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Curation:
Currentness:

CYP19A1 R264C

(CYP19A1 Arg264Cys)


Short summary

 

Variant evidence
Computational 1

PolyPhen: Benign, score 0.004
SIFT: Affect protein function 0.02
GVGD: GV 28.82; GD 169.74; Class C45
Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.02);
PolyPhen=benign(0.004);
Condel=deleterious(0.928)
Mutation Tasting Prediction: Polymorphism, P value: 0.994620; no protein features affected.

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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

  • A @ chr15:51507968: 7.9% (850/10756) in EVS
  • A @ chr15:49295259: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 7.9% (850/10756)

Publications
 

Ma CX, Adjei AA, Salavaggione OE, Coronel J, Pelleymounter L, Wang L, Eckloff BW, Schaid D, Wieben ED, Adjei AA, Weinshilboum RM. Human aromatase: gene resequencing and functional genomics. Cancer Res. 2005 Dec 1;65(23):11071-82. PubMed PMID: 16322257.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr15:51507968

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr15:51507968

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr15:51507968

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr15:51507968

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr15:51507968

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr15:51507968

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr15:51507968

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr15:51507968

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr15:49295260

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr15:49295260

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr15:49295260

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr15:49295260

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr15:49295260

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr15:49295260

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr15:49295260

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr15:49295260

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr15:49295260

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr15:49295260

 

Other external references
 

    dbSNP
  • rs700519
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (52 hits -- see all)
  • CYP19A1
    27142C>T. R264C. Ma et al., 2005. CYP19A1*4D Predicted haplotype. CYP19A1.4 ... R264C. Ma et al., 2005. CYP19A1*4F Predicted haplotype. CYP19A1.4. 27142C> ...
    www.cypalleles.ki.se/cyp19a1.htm
  • CYP19A1 [PharmGKB]
    rs4646 at chr15:49290136 in CYP19A1. A study in 67 patients with hormone receptor-positive ... CYP19A1: R264C; 27142C>T; Arg264Cys. Evidence: PMID:16322257. rs6493497 ...
    www.pharmgkb.org/do/serve?objId=PA27091
  • Rs700519 - SNPedia
    CYP19A1: R264C, 27142C>T, Arg264Cys. Annotation. This variant is the defining SNP for CYP19A1*4. It is associated with significant decreases in ...
    www.snpedia.com/index.php?title=Rs700519&oldid=185510
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    In contrast to Modugno et al. (8) and Suzuki et al. (29), we saw no association between the CYP19A1 R264C alteration and prostate cancer risk. ...
    intl-cancerres.aacrjournals.org/cgi/content/full/66/2/743
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    CYP19A1, CYP17A1, HSD3B1, and AR (7–11), of which genetic. variation is suggested to be ... association between the CYP19A1 R264C alteration and prostate ...
    cancerres.aacrjournals.org/cgi/reprint/66/2/743.pdf
  • Reference SNP(refSNP) Cluster Report: rs700519
    Database of Single Nucleotide Polymorphism ... SNP500CANCER|CYP19A1-05. fwd/B. C/T. 09/05/08. 09/05/08. 130. Genomic. unknown. ss125004921. 1000GENOMES|SRP_031_4688951_chr15_49295260 ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=700519
  • CYP19A1 Gene - GeneCards | CP19A Protein | CP19A Antibody
    Complete information for CYP19A1 gene (protein-coding), cytochrome P450, family 19, subfamily A, polypeptide 1
    genecards.org/cgi-bin/carddisp?...&search=cyp19a1&suff=txt
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ... rs1050760 CYP19A1 CYP19A1_33028>(rs1050787) noncore snp rs1050787 CYP19A1 CYP19A1_5998A> ...
    www.snpedia.com/index.php/Pharma_DMET
  • Polymorphisms in Genes Associated with Androgen Biosynthesis ...
    A substitution polymorphism R264C (C>T) in the CYP19A1 showed a weak ... reported that aromatase activity was not affected by the R264C alteration. ...
    acta.uta.fi/pdf/951-44-6434-6.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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