BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

Summary

This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]

Known Variants443 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75571465611:62,457,781C/T—uncertain significance
rs36814479211:62,457,790A/C—uncertain significance
rs194527193011:62,457,843G/T—uncertain significance
rs77589063611:62,457,852C/T—uncertain significance
rs159086782711:62,457,854G/A—likely benign
rs194527239611:62,457,855G/A—uncertain significance
rs74959755411:62,457,857G/T—likely benign
rs76904811111:62,457,859G/A—uncertain significance
rs213468837311:62,457,860G/A—likely benign
rs14946679711:62,457,861C/T—conflicting classifications of pathogenicity
rs14301709411:62,457,867C/A—uncertain significance
rs13851509111:62,457,868G/A—conflicting classifications of pathogenicity
rs142655716711:62,457,869G/C—likely benign
rs106050338211:62,457,874C/A—uncertain significance
rs77995236911:62,457,876C/G—uncertain significance
rs253914275811:62,457,887T/C—likely benign
rs148841011811:62,457,898C/T—uncertain significance
rs87666116011:62,457,903G/A—uncertain significance
rs37641877211:62,457,908T/C—likely benign
rs105751619011:62,457,911G/Tsynonymous variantpathogenic
rs194527442411:62,457,913C/T—uncertain significance
rs137081798711:62,457,914A/G—likely benign
rs147346506711:62,457,915G/A—uncertain significance
rs194527469111:62,457,917G/A—likely benign
rs75155804711:62,457,918G/A—uncertain significance
rs19978735111:62,457,919C/G—uncertain significance
rs19958488711:62,457,928A/C—uncertain significance
rs14165738511:62,457,930G/A—uncertain significance
rs253914303911:62,457,933G/A—uncertain significance
rs159086803011:62,457,937C/G—uncertain significance
rs37731058111:62,457,940G/A—conflicting classifications of pathogenicity
rs36973223811:62,457,946G/A—uncertain significance
rs14564942311:62,457,948A/G—conflicting classifications of pathogenicity
rs119723747411:62,457,949G/A—likely benign
rs145025116511:62,457,951T/C—uncertain significance
rs155498282511:62,457,952T/C—uncertain significance
rs253914313611:62,457,958C/G—uncertain significance
rs74873606311:62,457,959C/T—likely benign
rs126636117611:62,457,960G/A—uncertain significance
rs77244228111:62,457,964G/C—uncertain significance
rs77634385911:62,457,974A/G—likely benign
rs76864683611:62,457,977T/C—likely benign
rs159086810911:62,457,984G/A—uncertain significance
rs194527708011:62,457,986G/C—likely benign
rs253914322411:62,457,989T/C—likely benign
rs156514255311:62,457,995T/G—likely pathogenic
rs77524604411:62,457,997G/A—likely benign
rs76248426311:62,457,999C/T—likely benign
rs76400038411:62,458,010A/G—likely benign
rs11322935011:62,458,064C/T—likely benign
rs74845319511:62,458,065G/A—likely benign
rs77838012811:62,458,070A/C—conflicting classifications of pathogenicity
rs36981373811:62,458,073A/T—likely benign
rs20063190911:62,458,077C/T—conflicting classifications of pathogenicity
rs76272629611:62,458,078C/T—uncertain significance
rs253914352511:62,458,080T/G—uncertain significance
rs253914353711:62,458,085A/G—uncertain significance
rs76819128411:62,458,088A/G—likely benign
rs92529461611:62,458,098G/A—uncertain significance
rs56365331711:62,458,106C/T—likely benign
rs76746397111:62,458,116C/T—uncertain significance
rs13896442411:62,458,117C/T—uncertain significance
rs76649289711:62,458,118G/A—conflicting classifications of pathogenicity
rs77893137611:62,458,125G/C—uncertain significance
rs194528353111:62,458,139T/A—uncertain significance
rs119565552711:62,458,147C/T—uncertain significance
rs14151890311:62,458,150C/T—uncertain significance
rs1785087711:62,458,151G/A—likely benign
rs77968250011:62,458,158T/C—uncertain significance
rs213468956511:62,458,159G/A—pathogenic
rs253914381011:62,458,184G/A—likely benign
rs7618464511:62,458,233G/A—benign
rs36979854211:62,458,243G/A—likely benign
rs76553134311:62,458,247G/A—likely benign
rs37283952411:62,458,251C/T—likely benign
rs75867540411:62,458,252G/A—likely benign
rs145823281611:62,458,259C/G—uncertain significance
rs116268208711:62,458,260T/C—uncertain significance
rs253914404811:62,458,262T/C—uncertain significance
rs77251697411:62,458,265C/T—uncertain significance
rs14990702111:62,458,267G/A—conflicting classifications of pathogenicity
rs75784603411:62,458,268A/G—uncertain significance
rs15091493411:62,458,269G/C—likely benign
rs129407705711:62,458,271G/T—uncertain significance
rs685611:62,458,275T/C—benign
rs194528947411:62,458,286C/A—pathogenic
rs77845525911:62,458,292C/A—uncertain significance
rs213468996811:62,458,293C/T—likely benign
rs194528992511:62,458,302A/G—likely benign
rs77169832311:62,458,306G/A—uncertain significance
rs14999064311:62,458,310G/T—conflicting classifications of pathogenicity
rs74673745711:62,458,311C/T—conflicting classifications of pathogenicity
rs14424512511:62,458,312G/A—conflicting classifications of pathogenicity
rs142432546311:62,458,315G/C—uncertain significance
rs77637971111:62,458,316T/C—uncertain significance
rs76468270011:62,458,323C/T—likely benign
rs213469020911:62,458,327T/A—uncertain significance
rs253914428011:62,458,329G/A—likely benign
rs213469023311:62,458,337G/A—uncertain significance
rs100053628711:62,458,339C/T—uncertain significance

Showing 100 of 443 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.