TSC2

TSC complex subunit 2

Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

Known Variants5,902 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57704617516:2,097,955G/C—benign
rs88605178516:2,098,009A/G—uncertain significance
rs54071623516:2,098,011G/C—uncertain significance
rs139175075116:2,098,014G/T—uncertain significance
rs54375270916:2,098,024T/A—likely benign
rs56354450616:2,098,031G/C—likely benign
rs102229051816:2,098,048C/G—benign
rs94766236916:2,098,051G/T—likely benign
rs105752156316:2,098,056C/T—likely benign
rs79605348116:2,098,058C/T—likely benign
rs90321671416:2,098,060G/A—likely benign
rs55964128016:2,098,062G/A—conflicting classifications of pathogenicity
rs79605351416:2,098,068T/C—conflicting classifications of pathogenicity
rs99152039216:2,098,071G/T—uncertain significance
rs56845778616:2,098,200C/T—likely benign
rs131903316916:2,098,570C/T—likely benign
rs20104431216:2,098,571C/T—likely benign
rs2853797316:2,098,578G/C—likely benign
rs156737991016:2,098,581T/G—uncertain significance
rs142379855716:2,098,612C/T—uncertain significance
rs159623359716:2,098,613C/T—uncertain significance
rs215096945116:2,098,614A/T—uncertain significance
rs105544373016:2,098,617A/G—uncertain significance
rs208466770216:2,098,618T/A—likely pathogenic
rs39751520816:2,098,619G/A—likely pathogenic
rs76940046416:2,098,620G/C—uncertain significance
rs208466850116:2,098,621C/T—uncertain significance
rs136742103316:2,098,622C/G—likely benign
rs215096979316:2,098,625A/G—likely benign
rs215096983416:2,098,626C/T—uncertain significance
rs14720631816:2,098,627C/T—conflicting classifications of pathogenicity
rs76238756516:2,098,628A/G—benign
rs4551709316:2,098,629A/G—likely benign
rs155549454416:2,098,632A/G—uncertain significance
rs75823906616:2,098,633G/A—conflicting classifications of pathogenicity
rs39751495116:2,098,635A/T—not provided
rs13785421516:2,098,636A/C—uncertain significance
rs159623381516:2,098,638G/A—uncertain significance
rs215097033216:2,098,641T/G—uncertain significance
rs39751522816:2,098,642C/G—pathogenic
rs155549455516:2,098,643A/G—likely benign
rs215097043516:2,098,644G/C—uncertain significance
rs208467169716:2,098,645G/T—uncertain significance
rs87665972616:2,098,646C/T—likely benign
rs97851740416:2,098,647T/G—uncertain significance
rs119090734116:2,098,649G/A—likely benign
rs159623395116:2,098,652G/T—uncertain significance
rs155549458616:2,098,653G/A—uncertain significance
rs76681465016:2,098,655G/T—conflicting classifications of pathogenicity
rs126310896716:2,098,657A/G—conflicting classifications of pathogenicity
rs254834895816:2,098,658G/A—likely benign
rs215097091216:2,098,660T/G—uncertain significance
rs254834907416:2,098,661T/G—uncertain significance
rs208467493816:2,098,664G/C—uncertain significance
rs127419485116:2,098,665A/G—uncertain significance
rs254834918416:2,098,666T/G—uncertain significance
rs215097108516:2,098,667T/G—conflicting classifications of pathogenicity
rs159623407816:2,098,668C/G—uncertain significance
rs215097114516:2,098,670G/T—likely benign
rs215097117116:2,098,671T/C—likely benign
rs159623410516:2,098,674G/A—uncertain significance
rs215097131316:2,098,675G/T—uncertain significance
rs106050410816:2,098,676A/G—likely benign
rs208467617716:2,098,677C/A—uncertain significance
rs215097143216:2,098,679G/A—likely benign
rs147969884616:2,098,680G/A—benign
rs208467649716:2,098,681G/C—uncertain significance
rs156738058516:2,098,686C/A—uncertain significance
rs86846748716:2,098,687C/T—uncertain significance
rs75412147516:2,098,688G/A—likely benign
rs75986790516:2,098,690G/A—conflicting classifications of pathogenicity
rs215097182816:2,098,691G/A—likely benign
rs215097186116:2,098,692C/T—uncertain significance
rs155549463616:2,098,693C/T—uncertain significance
rs208467781516:2,098,695A/G—uncertain significance
rs254835012716:2,098,697T/A—conflicting classifications of pathogenicity
rs20048060616:2,098,698C/A—uncertain significance
rs105752210516:2,098,699C/A—conflicting classifications of pathogenicity
rs75283008616:2,098,701A/G—uncertain significance
rs156738069516:2,098,702G/A—uncertain significance
rs101048925616:2,098,703G/T—uncertain significance
rs142516352216:2,098,705C/G—conflicting classifications of pathogenicity
rs156738074116:2,098,708C/T—uncertain significance
rs208467956716:2,098,710G/A—uncertain significance
rs148257336816:2,098,711A/G—conflicting classifications of pathogenicity
rs156738077216:2,098,712G/A—conflicting classifications of pathogenicity
rs37023054116:2,098,713G/A—conflicting classifications of pathogenicity
rs135222058316:2,098,714G/A—conflicting classifications of pathogenicity
rs208468057316:2,098,716A/G—uncertain significance
rs77798863416:2,098,717A/C—conflicting classifications of pathogenicity
rs215097273416:2,098,718A/C—uncertain significance
rs13785410516:2,098,719C/T—not provided
rs215097282916:2,098,721G/A—likely benign
rs75711349716:2,098,722A/G—conflicting classifications of pathogenicity
rs37628017216:2,098,723C/T—conflicting classifications of pathogenicity
rs78107548316:2,098,724G/A—likely benign
rs215097298516:2,098,725G/T—pathogenic
rs254835121116:2,098,726A/T—uncertain significance
rs74560441716:2,098,729T/C—uncertain significance
rs106050411016:2,098,730T/C—likely benign

Showing 100 of 5,902 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.