POLA2 G583R - GET-Evidence

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

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(POLA2 Gly583Arg)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
Mutation Tasting prediction: Polymorphism p value: 0.503309; no protein features affected.
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 125.13; Class C65
Multi-alignment of Q14181.2 DNA polymerase alpha subunit B [Homo sapiens] with: XP_001169495.1 [Pan troglodytes] XP_001113977.1 [Macaca mulatta] XP_002755571.1 [Callithrix jacchus] XP_002916691.1 [Ailuropoda melanoleuca] XP_001492574.1 [Equus caballus] XP_002723449.1 [Oryctolagus cuniculus] XP_003122587.1 [Sus scrofa] XP_533234.2 [Canis familiaris] DAA13553.1 [Bos taurus] NP_001019713.2 [Bos taurus]

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


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr11:65064690: 15.4% (1656/10758) in EVS
  • A @ chr11:64821265: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 15.4% (1656/10758)


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PubMed PMID: 15224082



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr11:65064690


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr11:65064690


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr11:65064690


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr11:65064690


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr11:65064690


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr11:65064690


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr11:65064690


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr11:65064690




hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr11:65064690


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr11:65064690


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr11:65064690


huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr11:65064690


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr11:65064690


GS06985 - var-GS06985-1100-36-ASM
het A @ chr11:64821266


GS18501 - var-GS18501-1100-36-ASM
het A @ chr11:64821266


GS18504 - var-GS18504-1100-36-ASM
het A @ chr11:64821266


GS18508 - var-GS18508-1100-36-ASM
het A @ chr11:64821266


GS18940 - var-GS18940-1100-36-ASM
het A @ chr11:64821266


GS19648 - var-GS19648-1100-36-ASM
het A @ chr11:64821266


GS19670 - var-GS19670-1100-36-ASM
het A @ chr11:64821266


GS19703 - var-GS19703-1100-36-ASM
het A @ chr11:64821266


GS19834 - var-GS19834-1100-36-ASM
het A @ chr11:64821266


Other external references

  • rs487989
  • [gemcitabine]
    Risk or phenotype-associated allele: None. Phenotype: Variants identified in a screen of 13 genes involved in the gemcitabine drug metabolic pathway. For the non-synonymous POLA2:2089G>A (G583R) SNP, the A (583Arg) allele was at frequency 0.18 in both Europeans and Africans. The frequency of GG, GA, AA genotypes were 0.65, 0.34, 0.01 in Europeans, and 0.71, 0.22, 0.07 in Africans, respectively. There was a significant difference between ethnic groups in genotype frequency distribution (p < 0.05). Study size: 184. Study population/ethnicity: Healthy, unrelated blood donors of European (n = 95) and African (n = 89) descent. Significance metric(s): p < 0.05. Type of association: GN.
  • Score: 0.024 (benign)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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