AMACR G175D - 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:

AMACR G175D

(AMACR Gly175Asp)


Short summary

 

Variant evidence
Computational 5

PolyPhen2: Possibly damaging 0.661
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 93.77; Class C65
Variant Effect Predictor (Ensembl):
SIFT=deleterious(0.03);
PolyPhen=possibly_damaging(0.814);
Condel=deleterious(0.892)
Mutation Tasting Prediction: Polymorphism, P value: 1.648096e-06; protein features (might be) affected.

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

Impact

Insufficiently evaluated not reviewed

(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 @ chr5:34004707: 38.1% (4100/10758) in EVS
  • T @ chr5:34040463: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 38.1% (4100/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr5:34004707

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr5:34004707

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr5:34004707

 

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr5:34004707

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr5:34004707

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr5:34004707

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr5:34004707

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:34004707

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr5:34040464

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr5:34040464

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr5:34040464

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr5:34040464

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr5:34040464

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr5:34040464

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr5:34040464

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr5:34040464

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr5:34040464

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr5:34040464

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr5:34040464

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr5:34040464

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr5:34040464

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr5:34040464

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr5:34040464

 

Other external references
 

    dbSNP
  • rs10941112
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (23 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    Sequence analysis of AMACR cDNA from the patients identified 2 different mutations that are likely to cause ... had 2 missense polymorphisms (V9M and G175D) in addition to S52P. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+604489
  • Identiļ¬cation and Analysis of Deleterious Human SNPs
    L303F, at 20%; and AMACR G175D with a. frequency of 34%. SERPINA7 ... for the high frequency of the AMACR SNP. Divergence rates of monogenic disease-associ ...
    moult.umbi.umd.edu/pdfs/deleteriousHumanSNPs.pdf
  • ABSTRACT Title of Document: COMPUTATIONAL MODELING OF THE ...
    identify non-synonymous single base changes (the most common cause of ... analyzes the effect of the resulting amino acid change on protein stability by utilizing ...
    www.lib.umd.edu/drum/bitstream/1903/3157/1/umi-umd-2979.pdf
  • AceView: Gene:C1QTNF3andAMACR, a comprehensive annotation of ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=AMACR
  • Cancer Panel Annotation
    5. 34030491. 35. AMACR. NM_014324. intron -4012. 396. rs840409. 5. 34030700. 35. AMACR. NM_014324 ... G175D (NP_055139) 0.81. 400. rs34689. 5. 34043466. 35. AMACR. NM_014324 ...
    snpcenter.grcf.jhmi.edu/downloads/Cancer_Panel_Annotation...
  • OMIM: 604489
    ... of AMACR was discovered. Sequence analysis of AMACR cDNA from ... Both of these patients had 2 missense polymorphisms (V9M and G175D) in addition to S52P. ...
    www.genome.jp/dbget-bin/www_bget?omim+604489

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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