ABCB4 R652G - GET-Evidence

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

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(ABCB4 Arg652Gly)

Short summary


Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Affect protein function 0.03
GVGD: GV 104.46; GD 83.31; Class C15
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.999996; protein features (might be) affected (aa 355-711 TOPO_DOM Cytoplasmic (By similarity) gets lost)

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


Insufficiently evaluated not reviewed

(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

  • C @ chr7:87056176: 16.6% (1788/10758) in EVS
  • C @ chr7:86894111: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 16.6% (1788/10758)





hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr7:87056176


GS06985 - var-GS06985-1100-36-ASM
het C @ chr7:86894112


GS07357 - var-GS07357-1100-36-ASM
het C @ chr7:86894112


GS18501 - var-GS18501-1100-36-ASM
het C @ chr7:86894112


GS18502 - var-GS18502-1100-36-ASM
het C @ chr7:86894112


GS18504 - var-GS18504-1100-36-ASM
het C @ chr7:86894112


GS18508 - var-GS18508-1100-36-ASM
het C @ chr7:86894112


GS18517 - var-GS18517-1100-36-ASM
het C @ chr7:86894112


GS19017 - var-GS19017-1100-36-ASM
het C @ chr7:86894112


GS19129 - var-GS19129-1100-36-ASM
het C @ chr7:86894112


GS19239 - var-GS19239-1100-36-ASM
het C @ chr7:86894112


GS19670 - var-GS19670-1100-36-ASM
het C @ chr7:86894112


GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:86894112


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr7:86894112


GS19704 - var-GS19704-1100-36-ASM
hom C @ chr7:86894112


GS19834 - var-GS19834-1100-36-ASM
het C @ chr7:86894112


Other external references

  • rs2230028
  • Score: 0 (benign)
    Web search results (37 hits -- see all)
  • Pharma DMET - SNPedia
    ... noncore snp rs45524431 ABCB4 ABCB4_48606A>G(R652G) noncore snp rs8187799 ABCB4 ABCB4_55399G>C(T775T) noncore snp rs45498393 ABCB4 ABCB4_55437G>A ...
  • Hepatobiliary phospholipid transporter ABCB4, MDR3 gene ...
    Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with ... R549H, G536A), 1 in exon 15 (R590Q) and 2 in exon 16 (R652G, T6671) ...
  • Gastroenterology and Hepatology
    For genotyping we chose 4 SNPs of the ABCB4 gene (c.504C>T, c.711T>A, p.R652G, rs31653 in intron 26), all previously identified by our group3. ...
  • Obstetric Cholestasis RSS
    Multidrug resistance protein 3 R652G may reduce susceptibility to ... of ABCB4 and is indispensable for the plasma membrane localization and translocation function of ABCB4. ..."obstetric+cholestasis"+...
  • MDR or MRP, Primary Sclerosing Cholangitis Literature
    Abdullaev IF, Rudkouskaya A, Schools GP, Kimelberg HK, Mongin AA. Pharmacological ... ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with ...
  • MDR3 mutations associated with intrahepatic and gallbladder ...
    Rosmorduc et al identified mutations in the ABCB4 (MRD3) gene in 6 symptomatic adult patients with a pecu ... in 2 cases and for the R652G missense mutation (considered to be a ...
  • bilirubin, Primary Sclerosing Cholangitis Literature
    Abbasi S, Stewart DL, Radmacher P, Adamkin D. Natural course of cholestasis in ... phospholipids in development of liver injury in Mdr2 (Abcb4) knockout mice. ...
  • Supplementary Table xls.1
    ... rs8187758*Q237K rs8187792*ABCB4 NM_000443 NP_000434*L238V ... NP_061337 NM_018850 NP_061338 rs8187797*E528D rs8187799*R652G rs8187801*R788Q rs8187818*V21I rs8187820*V122M ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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