ABCC6 H632Q - 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:

ABCC6 H632Q

(ABCC6 His632Gln)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.38
GVGD: GV 24.08; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.44);
PolyPhen=benign(0);
Condel=deleterious(0.556)
Mutation Tasting Prediction: Polymorphism, P value: 0.870592; protein features (might be) affected (aa 597-939 TOPO_DOM Cytoplasmic (By similarity) gets lost; aa 629-853 DOMAIN ABC transporter 1 gets lost)

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 @ chr16:16278863: 44.8% (4819/10758) in EVS
  • T @ chr16:16186363: 37.5% (48/128) in GET-Evidence
  • Frequency shown in summary reports: 44.8% (4819/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr16:16278863

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr16:16278863

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr16:16278863

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr16:16278863

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr16:16278863

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr16:16278863

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr16:16278863

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr16:16278863

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr16:16278863

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr16:16278863

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr16:16278863

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr16:16278863

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr16:16278863

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr16:16278863

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr16:16278863

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr16:16278863

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr16:16278863

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr16:16278863

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr16:16278863

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr16:16278863

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr16:16278863

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr16:16278863

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr16:16278863

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr16:16278863

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr16:16186364

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr16:16186364

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr16:16186364

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr16:16186364

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr16:16186364

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:16186364

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr16:16186364

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr16:16186364

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr16:16186364

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr16:16186364

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr16:16186364

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr16:16186364

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr16:16186364

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chr16:16186364

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr16:16186364

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr16:16186364

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr16:16186364

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr16:16186364

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr16:16186364

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr16:16186364

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr16:16186364

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr16:16186364

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr16:16186364

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr16:16186364

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr16:16186364

 

Other external references
 

    dbSNP
  • rs8058694
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (10 hits -- see all)
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ADME ... snp rs4341770 ABCC6 ABCC6_44622A>G(G800G) noncore snp rs7500834 ABCC6 ...
    www.snpedia.com/index.php/Pharma_DMET
  • A Spectrum of ABCC6 Mutations Is Responsible for ...
    A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum ... The frequencies of K281E, I319V, and H632Q in our PXE cohort and control panel were, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1226061/?tool=pubmed
  • Analysis of the Frequent R1141X Mutation in the ABCC6 Gene in ...
    Analysis of the Frequent R1141X Mutation in the ABCC6 Gene in Pseudoxanthoma Elasticum ... The ABCC6 R1141X mutation was found on 19 alleles in 16 patients with ...
    www.iovs.org/cgi/content/full/44/5/1824
  • A Spectrum of ABCC6 Mutations Is Responsible for ...
    deletions involving ABCC6. Although most mutations appeared to be unique variants, two ... or mutations occurring in noncoding regions of the ABCC6 gene. ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • AceView: Gene:ABCC6, a comprehensive annotation of human ...
    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=ABCC6.1
  • biotec.icb.ufmg.br
    ... beta 1 3Gal 1 4 5 P3 3-kinase 1 4 5 P3 3-kinases 1 4 5 P3 receptor 1 4 5 P3 receptors 1 4 ... ABCA1 gene ABCA3 ABCA7 ABCB5 p-gp ABCB9 ABCC6 ABCG2 ABCR ABD ABD SHP1c ABD1 ABE3 ...
    biotec.icb.ufmg.br/procon/prot_dictionary.txt

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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