BRAF R462I - 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:

BRAF R462I

(BRAF Arg462Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.046 (benign)
    Web search results (14 hits -- see all)
  • MoKCa
    Home :: List of genes :: Mutations of BRAF :: R462I. BRAF R462I. Mutation type. Missense. Domain. pfam_A: Pkinase residues 457 to 714. Prevalence ...
    strubiol.icr.ac.uk/extra/mokca/aggregate.php?...
  • share.gene.com
    ... BRAF K601N BRAF L584L BRAF L597L BRAF L597Q BRAF L597R BRAF L597S BRAF L597V BRAF L618S BRAF N581S BRAF Q456Q BRAF R444R BRAF R444W BRAF R462I ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • MoKCa
    Mutations of BRAF. B-Raf proto-oncogene serine/threonine-protein kinase - Homo sapiens ... Project COSMIC entry for BRAF. SwissProt/UNIPROT primary accession ...
    strubiol.icr.ac.uk/extra/mokca/mut_by_prot.php?protein_q=44
  • Catalogue of Somatic Mutations in Cancer
    BRAF is involved in fusions with FCHSD1 (1), KIAA1549 (120) Details ... Details for BRAF. Primary Tissue. Unique Mutated Samples % Mutated. Total Unique Samples ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?action=bygene&ln=BRAF
  • Catalogue of Somatic Mutations in Cancer
    AA Mutation. p.R462I (Substitution - Missense) CDS Mutation. c.1385G>T (Substitution) ... Gene. BRAF. Tissue Distribution (Top 5) Associated Samples. Sample Name ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&id=447
  • Development and Applications of a BRAF Oligonucleotide ...
    Oligonucleotide Sequences of the BRAF Oligonucleotide Microarray ... R462I. 11. 462. 5'-AGTGGGACAAATAATTGGATCTG-3' 16. 463W. 11. 463. 5'-GGGACAAAGAATTGGATCTGGAT-3' ...
    jmd.amjpathol.org/cgi/content/full/9/1/55/T1
  • Type II- 99%
    ... CAMKL (0.709) RSK (0.930) BRAF P15056 R462I 465 VAR_018613 PKC (0.890) RSK (0.933) colorectal cancer 12198537 ARHGEF1 Q92888 P375L 374 VAR_033521 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... GCCD1 BRAF P15056 V600E 599 VAR_018629 PKC (0.530) colorectal cancer, melanoma, ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Insulin-like Growth Factor Binding Protein 7 For Treatment Of ...
    ... suspected of having a tumor, and administering to the subject an effective amount of an IGFBP7 agent if the tumor has increased Ras-BRAF-MEK-Erk ...
    www.freshpatents.com/-dt20090604ptan20090142302.php
  • OMIM: 114500
    There were 32 mutations in BRAF, 28 with a V600E mutation (164757. ... R462I (164757.0002), I463S (164757.0003), G464E (164757.0004), or K601E (164757. ...
    www.genome.jp/dbget-bin/www_bget?omim+114500

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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