ADAMTS15

ADAM metallopeptidase with thrombospondin type 1 motif 15

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]

Known Variants74 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254152033111:130,318,991C/G—pathogenic
rs76781493611:130,319,004G/A—uncertain significance
rs143331393811:130,319,011C/A—uncertain significance
rs75818030911:130,319,046T/C—uncertain significance
rs54398127411:130,319,068A/G—uncertain significance
rs75864919411:130,319,112G/C—uncertain significance
rs156538938011:130,319,118C/G—uncertain significance
rs136449617511:130,319,119T/A—uncertain significance
rs14830907311:130,319,202G/C—uncertain significance
rs126132537711:130,319,415G/A—uncertain significance
rs193791585011:130,319,439T/A—uncertain significance
rs14360195811:130,319,515T/A—uncertain significance
rs36769427711:130,319,518C/G—uncertain significance
rs131521031311:130,319,521G/A—uncertain significance
rs6175309011:130,319,571G/A—benign
rs14970388711:130,319,637A/G—uncertain significance
rs37141539211:130,319,643C/T—uncertain significance
rs54305916211:130,319,790G/A—uncertain significance
rs18161970911:130,320,518G/Aintron variant—
rs18404149911:130,331,384G/A—uncertain significance
rs117559829611:130,331,996A/G—uncertain significance
rs77254868111:130,332,011G/A—uncertain significance
rs76939501711:130,332,066C/T—uncertain significance
rs95831709411:130,332,071C/G—uncertain significance
rs76083545311:130,332,083G/T—uncertain significance
rs53149165511:130,332,104G/A—uncertain significance
rs11689707111:130,332,457T/Cmissense variant—
rs53580828711:130,332,493G/C—uncertain significance
rs254153200111:130,332,527G/A—uncertain significance
rs18902913911:130,332,581G/A—uncertain significance
rs20161158011:130,332,640G/A—likely benign
rs136162077511:130,332,646G/A—uncertain significance
rs75595721011:130,332,653G/A—uncertain significance
rs78011114811:130,339,175A/G—uncertain significance
rs146517039611:130,339,203G/A—uncertain significance
rs14934196411:130,339,220G/A—likely benign
rs76397449411:130,339,248A/C—uncertain significance
rs75519741611:130,339,265G/A—uncertain significance
rs254154133211:130,340,838G/A—uncertain significance
rs78063288811:130,340,863A/G—uncertain significance
rs37300011811:130,340,880C/T—uncertain significance
rs76075660311:130,340,919G/A—uncertain significance
rs90044244911:130,341,101A/G—pathogenic
rs88611244611:130,341,134C/T—uncertain significance
rs76309530111:130,341,137C/T—uncertain significance
rs77491569411:130,341,142G/A—uncertain significance
rs36805558311:130,341,163A/C—uncertain significance
rs19953846811:130,341,170C/G—uncertain significance
rs53806844411:130,341,184A/C—uncertain significance
rs54235613711:130,341,191G/T—uncertain significance
rs119859512211:130,341,226G/T—uncertain significance
rs74946236711:130,341,275C/G—uncertain significance
rs254154382311:130,342,974C/T—uncertain significance
rs6174609211:130,343,023C/T—benign
rs20084081311:130,343,135C/T—uncertain significance
rs6175309111:130,343,143C/T—likely benign
rs75445106411:130,343,144G/A—pathogenic
rs75768884511:130,343,148C/T—uncertain significance
rs77653798811:130,343,172A/G—uncertain significance
rs75971141511:130,343,180C/T—uncertain significance
rs14455817211:130,343,357G/A—uncertain significance
rs20024103411:130,343,367C/T—uncertain significance
rs6175747411:130,343,368G/A—benign
rs133255485011:130,343,432A/G—likely benign
rs56082713411:130,343,462C/T—uncertain significance
rs75032359911:130,343,481G/A—uncertain significance
rs75721367511:130,343,510C/T—uncertain significance
rs76294672011:130,343,529C/T—uncertain significance
rs37506149411:130,343,558C/G—uncertain significance
rs254154511811:130,343,578C/G—likely pathogenic
rs76645156011:130,343,633G/A—uncertain significance
rs6174332311:130,343,640G/A—uncertain significance
rs124226664111:130,343,696T/G—uncertain significance
rs6174431711:130,343,702C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.