DSC2 I776V - 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:

DSC2 I776V

(DSC2 Ile776Val)


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 @ chr18:28649042: 19.2% (2061/10758) in EVS
  • C @ chr18:26903039: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 19.2% (2061/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr18:28649042

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr18:28649042

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr18:28649042

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr18:28649042

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr18:28649042

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr18:28649042

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr18:28649042

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr18:28649042

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr18:28649042

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr18:28649042

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr18:28649042

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr18:28649042

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr18:26903040

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr18:26903040

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr18:26903040

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr18:26903040

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr18:26903040

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr18:26903040

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr18:26903040

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr18:26903040

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr18:26903040

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr18:26903040

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr18:26903040

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr18:26903040

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr18:26903040

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr18:26903040

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr18:26903040

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr18:26903040

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr18:26903040

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr18:26903040

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr18:26903040

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr18:26903040

 

NA12878

 

Other external references
 

    dbSNP
  • rs1893963
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DSC2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSC2
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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