ADAMTS2 R827Q - 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.

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(ADAMTS2 Arg827Gln)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs35445112
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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