ABCA1 R219K - 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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(ABCA1 Arg219Lys)

You are viewing an old version of this page that was saved on November 29, 2012 at 4:34am by Genome Importing Robot.

Short summary


Variant evidence
Computational 2

PolyPhen: Benign score 0.000
SIFT: Tolerated 1.00
GVGD: GV 0.00; GD 26.00; Class C25
Variant Effect Predictor (Ensembl ): SIFT=tolerated(1);
Mutation Tasting Prediction: Polymorphism, P value: 0. 998175; protein features (might be) affected (aa 43-639 TOPO_Extracellular gets lost)

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

  • T @ chr9:107620867: 39.3% (4225/10758) in EVS
  • T @ chr9:106660687: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 39.3% (4225/10758)


Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, Alonso R, Mata P, Pocoví M, Civeira F; Spanish FH group. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet. 2003 Mar;40(3):163-8. PubMed PMID: 12624133; PubMed Central PMCID: PMC1735389.


Katzov H, Bennet AM, Höglund K, Wiman B, Lütjohann D, Brookes AJ, Andreasen N, Blennow K, De Faire U, Prince JA. Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels. J Hum Genet. 2006;51(3):171-9. Epub 2005 Dec 22. PubMed PMID: 16372134.



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr9:107620867


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr9:107620867


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr9:107620867




hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr9:107620867



Added in this revision:

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr9:107620867



hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr9:107620867



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr9:107620867


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr9:107620867


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr9:107620867


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr9:107620867


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr9:107620867


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr9:107620867


GS06994 - var-GS06994-1100-36-ASM
het T @ chr9:106660688


GS07357 - var-GS07357-1100-36-ASM
het T @ chr9:106660688


GS18501 - var-GS18501-1100-36-ASM
het T @ chr9:106660688


GS18502 - var-GS18502-1100-36-ASM
het T @ chr9:106660688


GS18504 - var-GS18504-1100-36-ASM
het T @ chr9:106660688


GS18505 - var-GS18505-1100-36-ASM
het T @ chr9:106660688


GS18517 - var-GS18517-1100-36-ASM
hom T @ chr9:106660688


GS18555 - var-GS18555-1100-36-ASM
het T @ chr9:106660688


GS18942 - var-GS18942-1100-36-ASM
het T @ chr9:106660688


GS18947 - var-GS18947-1100-36-ASM
het T @ chr9:106660688


GS18956 - var-GS18956-1100-36-ASM
het T @ chr9:106660688


GS19017 - var-GS19017-1100-36-ASM
hom T @ chr9:106660688


GS19025 - var-GS19025-1100-36-ASM
het T @ chr9:106660688


GS19026 - var-GS19026-1100-36-ASM
het T @ chr9:106660688


GS19129 - var-GS19129-1100-36-ASM
hom T @ chr9:106660688


GS19238 - var-GS19238-1100-36-ASM
het T @ chr9:106660688


GS19239 - var-GS19239-1100-36-ASM
hom T @ chr9:106660688


GS19240 - var-GS19240-1100-36-ASM
hom T @ chr9:106660688


GS19648 - var-GS19648-1100-36-ASM
hom T @ chr9:106660688


GS19649 - var-GS19649-1100-36-ASM
het T @ chr9:106660688


GS19670 - var-GS19670-1100-36-ASM
het T @ chr9:106660688


GS19700 - var-GS19700-1100-36-ASM
hom T @ chr9:106660688


GS19701 - var-GS19701-1100-36-ASM
hom T @ chr9:106660688


GS19703 - var-GS19703-1100-36-ASM
hom T @ chr9:106660688


GS19704 - var-GS19704-1100-36-ASM
hom T @ chr9:106660688


GS19735 - var-GS19735-1100-36-ASM
het T @ chr9:106660688


GS20502 - var-GS20502-1100-36-ASM
het T @ chr9:106660688


GS21767 - var-GS21767-1100-36-ASM
het T @ chr9:106660688


Other external references

  • rs2230806
  • GeneTests records for the ABCA1 gene
    ABCA1-Associated Familial High Density Lipoprotein Deficiency
    Familial High Density Lipoprotein Deficiency
    Tangier Disease

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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