SLC26A2 T689S - GET-Evidence

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

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SLC26A2 T689S

(SLC26A2 Thr689Ser)

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 @ chr5:149361221: 19.7% (2117/10758) in EVS
  • T @ chr5:149341413: 11.5% (14/122) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (2117/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr5:149361221


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr5:149361221




hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr5:149361221


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr5:149361221




hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr5:149361221



huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr5:149361221


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr5:149361221


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr5:149361221


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr5:149361221


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr5:149361221


GS18502 - var-GS18502-1100-36-ASM
het T @ chr5:149341414


GS18508 - var-GS18508-1100-36-ASM
het T @ chr5:149341414


GS19025 - var-GS19025-1100-36-ASM
het T @ chr5:149341414


GS19129 - var-GS19129-1100-36-ASM
het T @ chr5:149341414


GS19238 - var-GS19238-1100-36-ASM
het T @ chr5:149341414


GS19648 - var-GS19648-1100-36-ASM
het T @ chr5:149341414


GS19649 - var-GS19649-1100-36-ASM
het T @ chr5:149341414


GS19701 - var-GS19701-1100-36-ASM
het T @ chr5:149341414


GS19703 - var-GS19703-1100-36-ASM
het T @ chr5:149341414




Other external references

  • rs3776070
  • GeneTests records for the SLC26A2 gene
    Achondrogenesis Type 1B
    Atelosteogenesis Type II
    Diastrophic Dysplasia
    Multiple Epiphyseal Dysplasia, Recessive
    Sulfate Transporter-Related Osteochondrodysplasia
    Web search results (4 hits -- see all)
  • Multiple Epiphyseal Dysplasia, Recessive -- GeneReviews ...
    Targeted mutation analysis of SLC26A2 is indicated in probands with clinical and ... SLC26A2 is indicated in probands with only one heterozygous SLC26A2 ...
  • Achondrogenesis Type 1B
    AO2. The diagnosis can be confirmed by molecular genetic testing of SLC26A2, which is ... and histologic features of SLC26A2 dysplasia, SLC26A2 molecular ...
  • Original File
    Note: The original file submitted is modified to provide links to the ... 1. Overview of DTDST Gene (SLC26A2) Mutations Predicted Nucleotide protein Associated ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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