USH2A M3868V - 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:

USH2A M3868V

(USH2A Met3868Val)


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 @ chr1:215914826: 21.8% (2345/10758) in EVS
  • C @ chr1:213981448: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2345/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chr1:215914826

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr1:215914826

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:215914826

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:215914826

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:215914826

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr1:215914826

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr1:215914826

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr1:215914826

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:215914826

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr1:215914826

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:215914826

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr1:215914826

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr1:213981449

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:213981449

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:213981449

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:213981449

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:213981449

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:213981449

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:213981449

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr1:213981449

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:213981449

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr1:213981449

 

Other external references
 

    dbSNP
  • rs35309576
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the USH2A gene
    Retinitis Pigmentosa, Autosomal Recessive
    Usher Syndrome Type 2
    USH2A-Related Retinitis Pigmentosa
    Usher Syndrome Type 2A
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH2A
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in