XRCC3 T241M - GET-Evidence

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

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Curation:
Currentness:

XRCC3 T241M

(XRCC3 Thr241Met)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.11);
PolyPhen=benign(0.176);
Condel=deleterious(0.724)
Mutation Tasting Prediction: Polymorphism p value: 0.999102; no protein features affected.
SIFT: Affect protein function 0.01
GVGD: GV 58.02; GD 59.13; Class C15
Multi-alignment of O43542.1 DNA repair protein XRCC3 [Homo sapiens] with: XP_003314577.1 [Pan troglodytes] XP_002825186.1 [Pongo abelii] XP_003276237.1 [Nomascus leucogenys] XP_001083970.1 [Macaca mulatta] XP_002754356.1 [Callithrix jacchus] XP_001917338.1 [Equus caballus] XP_002918902.1 [Ailuropoda melanoleuca] XP_002721745.1 [Oryctolagus cuniculus] EFB29766.1 [Ailuropoda melanoleuca] EDL18612.1 [Mus musculus]

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

  • A @ chr14:104165753: 32.2% (3458/10752) in EVS
  • A @ chr14:103235505: 31.5% (39/124) in GET-Evidence
  • Frequency shown in summary reports: 32.2% (3458/10752)

Publications
 

Jin MJ, Chen K, Song L, Fan CH, Chen Q, Zhu YM, Ma XY, Yao KY. The association of the DNA repair gene XRCC3 Thr241Met polymorphism with susceptibility to colorectal cancer in a Chinese population. Cancer Genet Cytogenet. 2005 Nov;163(1):38-43. PubMed PMID: 16271954.

 

show discussion

Discussion

 

Jiang Z, Li C, Xu Y, Cai S. A meta-analysis on XRCC1 and XRCC3 polymorphisms and colorectal cancer risk. Int J Colorectal Dis. 2010 Feb;25(2):169-80. Epub 2009 Nov 14. PubMed PMID: 19915856.

 

Fang F, Wang J, Yao L, Yu XJ, Yu L, Yu L. Relationship between XRCC3 T241M polymorphism and gastric cancer risk: a meta-analysis. Med Oncol. 2011 Dec;28(4):999-1003. Epub 2010 Jun 12. PubMed PMID: 20549576.

 

Zhao L, Long XD, Yao JG, Wang C, Ma Y, Huang YZ, Li YQ, Wang MF, Fu GH. Genetic polymorphism of XRCC3 codon 241 and Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi Population, China: a hospital-based case-control study. Cancer Epidemiol. 2011 Dec;35(6):564-8. Epub 2011 Sep 19. PubMed PMID: 21937297.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:104165753

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:104165753

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr14:104165753

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr14:104165753

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr14:104165753

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr14:104165753

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom A @ chr14:104165753

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:104165753

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr14:104165753

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr14:104165753

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr14:104165753

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr14:104165753

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr14:104165753

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr14:104165753

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr14:104165753

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr14:104165753

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr14:104165753

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr14:104165753

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr14:104165753

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr14:104165753

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr14:104165753

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr14:103235506

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr14:103235506

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr14:103235506

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr14:103235506

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr14:103235506

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr14:103235506

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr14:103235506

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr14:103235506

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr14:103235506

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr14:103235506

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr14:103235506

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr14:103235506

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr14:103235506

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr14:103235506

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr14:103235506

 

Other external references
 

    dbSNP
  • rs861539
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.188 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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