ADAMTS2 R827Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ADAMTS2 R827Q

(ADAMTS2 Arg827Gln)


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

  • T @ chr5:178555097: 2.7% (294/10756) in EVS
  • T @ chr5:178487702: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (294/10756)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr5:178555097

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr5:178555097

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr5:178555097

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr5:178555097

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr5:178487703

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr5:178487703

 

Other external references
 

    dbSNP
  • rs35445112
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.876 (probably damaging)
    Web search results (8 hits -- see all)
  • ADAMTS2 Gene - GeneCards | ATS2 Protein | ATS2 Antibody
    ADAMTS2 Gene in genomic location: bands according to Ensembl, locations according to (and ... from Abnova (ADAMTS2) Novus Biologicals Antibodies for ADAMTS2 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS2
  • A disintegrin and metalloproteinase with thrombospondin ...
    ADAMTS2. Synonyms: PCINP, PCPNI. Organism. Homo sapiens (Human) [Complete proteome] ... Defects in ADAMTS2 are the cause of Ehlers-Danlos syndrome type 7C ...
    www.uniprot.org/uniprot/O95450
  • UniProt: O95450
    CC -!- DISEASE: Defects in ADAMTS2 are the cause of Ehlers-Danlos CC syndrome ... PF01421; Reprolysin; 1. DR Pfam; PF00090; TSP_1; 3. DR PRINTS; PR01859; ADAMTS2. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+O95450

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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