COL11A2 P894L - 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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COL11A2 P894L

(COL11A2 Pro894Leu)

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

  • A @ chr6:33141280: 9.6% (1028/10746) in EVS
  • A @ chr6:33249257: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (1028/10746)








hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr6:33141280







GS06994 - var-GS06994-1100-36-ASM
hom A @ chr6:33249258


GS18526 - var-GS18526-1100-36-ASM
het A @ chr6:33249258


GS18947 - var-GS18947-1100-36-ASM
hom A @ chr6:33249258


GS18956 - var-GS18956-1100-36-ASM
het A @ chr6:33249258


GS19704 - var-GS19704-1100-36-ASM
het A @ chr6:33249258




Other external references

  • rs2855430
  • GeneTests records for the COL11A2 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    Stickler Syndrome
    COL11A2-Related Stickler Syndrome
    DFNA13 Nonsyndromic Hearing Loss and Deafness
    Otospondylomegaepiphyseal Dysplasia
    Weissenbacher-Zweymuller Syndrome
  • Score: 0.996 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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