PKHD1 R760C - GET-Evidence

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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:

PKHD1 R760C

(PKHD1 Arg760Cys)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.16
GVGD: GV 189.83; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.12);
PolyPhen=benign(0);
Condel=deleterious(0.880)
Mutation Tasting Prediction: Polymorphism, P value: 0.960743; protein features (might be) affected (aa 24-3858 TOPO_DOM Extracellular (potential) 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

  • A @ chr6:51914956: 38.6% (4156/10758) in EVS
  • A @ chr6:52022914: 43.8% (56/128) in GET-Evidence
  • Frequency shown in summary reports: 38.6% (4156/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr6:51914956

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr6:51914956

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr6:51914956

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr6:51914956

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr6:51914956

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr6:51914956

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr6:51914956

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr6:51914956

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr6:51914956

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het A @ chr6:52022915

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr6:51914956

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het A @ chr6:51914956

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
het A @ chr6:51914956

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr6:51914956

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr6:51914956

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr6:51914956

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr6:51914956

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr6:51914956

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr6:51914956

 

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
hom A @ chr6:51914956

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr6:52022915

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr6:51914956

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom A @ chr6:51914956

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr6:51914956

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr6:51914956

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr6:51914956

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr6:51914956

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:51914956

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr6:51914956

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr6:51914956

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr6:51914956

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr6:51914956

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr6:51914956

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom A @ chr6:51914956

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr6:51914956

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr6:51914956

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr6:51914956

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr6:52022915

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:52022915

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr6:52022915

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:52022915

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr6:52022915

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr6:52022915

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr6:52022915

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr6:52022915

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr6:52022915

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr6:52022915

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr6:52022915

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:52022915

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:52022915

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:52022915

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr6:52022915

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr6:52022915

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr6:52022915

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr6:52022915

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr6:52022915

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr6:52022915

 

Other external references
 

    dbSNP
  • rs9370096
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • Milder Presentation of Recessive Polycystic Kidney Disease ...
    (PKHD1), are responsible for all typical forms of ARPKD. Mutation detection was performed ... We PCR-amplified 74 amplicons from the PKHD1 genomic locus ...
    humgen.rwth-aachen.de/publications/Furu-Mutationspaper.pdf
  • ARPKD/PKHD1 Mutation Database
    (ARPKD/PKHD1) Department of Human Genetics. Aachen University ... R760C. C758. 25% (1000) 1-10. Ex24. c.2489A>G. N830S. N828. 10% (800) 3;5;6;7;8;9;10. Ex24. c. ...
    humgen.rwth-aachen.de/index.asp?subform=data.asp&...

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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