BBS2 I123V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

BBS2 I123V

(BBS2 Ile123Val)


Short summary

 

Variant evidence
Computational -
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

  • C @ chr16:56545175: 19.6% (2112/10758) in EVS
  • C @ chr16:55102675: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 19.6% (2112/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr16:56545175

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr16:56545175

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr16:56545175

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr16:56545175

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr16:56545175

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr16:56545175

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr16:56545175

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr16:56545175

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr16:56545175

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr16:56545175

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr16:56545175

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr16:56545175

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr16:55102676

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr16:55102676

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr16:55102676

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr16:55102676

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr16:55102676

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr16:55102676

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr16:55102676

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr16:55102676

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr16:55102676

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr16:55102676

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr16:55102676

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr16:55102676

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr16:55102676

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr16:55102676

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr16:55102676

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr16:55102676

 

Other external references
 

    dbSNP
  • rs11373
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (10 hits -- see all)
  • BioPortfolio - bbs2 life
    Bbs2-null mice have neurosensory deficits, a defect in social ... One of them, corresponding to a known polymorphism in exon 3 of BBS2 (I123V) ...
    www.bioportfolio.com/search/bbs2_life.html
  • AceView: Gene:BBS2, 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=BBS2
  • Antenatal Presentation of Bardet-Biedl Syndrome May Mimic ...
    BBS2: A367G. I123V. IVS5 54 GrC. IVS6 34 CrT. A1413C. V471V. BBS3: IVS4 18 ... The R216X BBS2 mutation identified in case 2b was. reported in a BBS case carrying, in ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Genetic Architecture of Oligogenic Disease
    AR259-BBS2. 03. 04. 05. Y24X. Q59Xwt. wt. wt. wt. wtY24X. wt. wt. wt. wt. wt. Q59X. Y24X. Q59Xwt. wt. wt. wt ... I123V: V-allele has a MAF of 13% in CEU. Functional tests suggest ...
    genesys.ac.uk/Portals/0/eccs09/Genetic architecture uk le...
  • Population
    I123V. 55,102,676. exon 3. c>t. I>V. 0.18. rs2161738. IVS5 C>G +1529. 55,099, ... Supplementary Figure 1 | Pairwise LD of BBS1, BBS2, BBS4 and BBS6 in 48 obese and control ...
    diabetes.diabetesjournals.org/.../PG2876OnlineAppendix.doc
  • Evaluation of Complex Inheritance Involving the Most Common ...
    BBS2. I123V. BBS2. A504V. BBS4. K46R. BBS4. I70V. BBS4. T354I. MKKS. A8T. MKKS ... and flanking spice sites in the BBS2, BBS4, and MKKS. genes in 43 unrelated patients with ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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