MSR1 D174Y - GET-Evidence

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

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Curation:
Currentness:

MSR1 D174Y

(MSR1 Asp174Tyr)


You are viewing the latest version of this page, saved on November 28, 2013 at 11:11am by Madeleine Ball.

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

  • A @ chr8:16026077: 0.6% (65/10758) in EVS
  • A @ chr8:16070447: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (65/10758)

Publications
 

Xu J, Zheng SL, Komiya A, Mychaleckyj JC, Isaacs SD, Hu JJ, Sterling D, Lange EM, Hawkins GA, Turner A, Ewing CM, Faith DA, Johnson JR, Suzuki H, Bujnovszky P, Wiley KE, DeMarzo AM, Bova GS, Chang B, Hall MC, McCullough DL, Partin AW, Kassabian VS, Carpten JD, Bailey-Wilson JE, Trent JM, Ohar J, Bleecker ER, Walsh PC, Isaacs WB, Meyers DA. Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet. 2002 Oct;32(2):321-5. Epub 2002 Sep 16. PubMed PMID: 12244320.

 

Added in this revision:

Sun J, Hsu FC, Turner AR, Zheng SL, Chang BL, Liu W, Isaacs WB, Xu J. Meta-analysis of association of rare mutations and common sequence variants in the MSR1 gene and prostate cancer risk. Prostate. 2006 May 15;66(7):728-37. PubMed PMID: 16425212.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.952 (probably damaging)
    Web search results (22 hits -- see all)
  • Wake Forest-Johns Hopkins Team Discovers Prostate Cancer Gene
    Scientists in the Center for Human Genomics at Wake Forest University School of Medicine and Johns Hopkins Medical Institutions have discovered a gene that "may ...
    www.sciencedaily.com/releases/2002/09/020916062804.htm
  • Life Extension Daily News
    ... of prostate cancer (PCa) could be related to MSR1 gene mutations, especially in black men. ... "However, the frequency of the D174Y mutation was consistently higher among cases ...
    lef.org/news/LefDailyNews.htm?NewsID=4037&Section=DISEASE
  • MSR1 variants and the risks of prostate cancer and benign ...
    The MSR1 protein, encoded by the MSR1 gene, is a transmembrane protein that is expressed ... eight studies on MSR1 suggests that the R293X and D174Y variants are ...
    carcin.oxfordjournals.org/cgi/content/full/28/12/2530
  • MSR1 variants and the risks of prostate cancer and benign ...
    between MSR1 variants and prostate cancer risk, we sequenced. all the 11 MSR1 exons, exon ... ies on MSR1 suggests that the R293X and D174Y variants are asso ...
    carcin.oxfordjournals.org/cgi/reprint/28/12/2530.pdf
  • Wake Forest-Johns Hopkins Team Discovers Prostate Cancer Gene ...
    ... evidence that MSR1 may play an important role in prostate cancer susceptibility." MSR1 was already known ... Americans, had a variant called D174Y; five mutations were found in ...
    laboratorian.advanceweb.com/Article/...
  • Wake Forest-Johns Hopkins team discovers prostate cancer gene
    Scientists in the Center for Human Genomics at Wake Forest University School of Medicine and Johns Hopkins Medical Institutions have discovered a gene that "may play ...
    www.eurekalert.org/pub_releases/2002-09/wfub-wfh091002.php
  • [Frontiers in Bioscience 11, 1388-1413, May 1, 2006]
    Science, global weekly of science ... MSR1. PRO3, P275A, D174Y, IVS5-59, R293X , IVS7delTTA, IVS5-57. Xu et al, 2003 (107), N=301 cases, U.S. Caucasians. Positive association ...
    www.bioscience.org/2006/v11/af/1891/tables.htm
  • Wake Forest University School of Medicine :: Division of ...
    BACKGROUND: MSR1 has been reported to be associated with increased risk of ... However, the frequency of the D174Y mutation was consistently higher among cases ...
    www.phs.wfubmc.edu/public/pubsDetail.cfm?pub=537
  • Noticias de la SEAP
    Mutaciones en el MSR1 se ligan a riesgo alto de cáncer de próstata ... papel del MSR1 en la susceptibilidad del cáncer de próstata", gen que ya se ...
    conganat.org/.../septiembre2002/caprostataseptiembre02.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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