SDHA V657I - 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:

SDHA V657I

(SDHA Val657Ile)


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

  • A @ chr5:256509: 19.5% (2101/10758) in EVS
  • A @ chr5:309508: 18.2% (20/110) in GET-Evidence
  • Frequency shown in summary reports: 19.5% (2101/10758)

Publications
 

Genomes
 

hu034DB1

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr5:309509

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr5:309509

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr5:309509

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr5:309509

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr5:309509

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr5:309509

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr5:309509

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr5:309509

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr5:309509

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr5:309509

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr5:309509

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr5:309509

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr5:309509

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr5:309509

 

NA12878

 

Other external references
 

    dbSNP
  • rs6962
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SDHA gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex II Deficiency
    Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Rela
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHA
    PolyPhen-2
  • Score: 0.011 (benign)
    Web search results (5 hits -- see all)
  • BioMed Central | Full text | Sequence variation in human ...
    High nucleotide diversity in the human SDHA gene, which has a role in cellular oxygen ... Sequence analysis uncovered two common SDHA missense variants and refuted the previous ...
    www.biomedcentral.com/1741-7007/5/12
  • BMC Biology
    We also sequenced the SDHA gene (2.8 kb) in 18 chimpanzees. ... that the Y629F and V657I variants originate from two dis- tinct genetic loci because ...
    www.biomedcentral.com/content/pdf/1741-7007-5-12.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in