RET C611Y
Gene Variant Detail

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Gene RET
Variant C611Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C611Y lies within the extracellular domain of the Ret protein (UniProt.org). C611Y confers a gain of function on the Ret protein as indicated by dimerization of Ret and transformation of cultured cells (PMID: 9230192).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C611Y

RET mutant RET C611X RET C611Y

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Transcript NM_020975.6
gDNA chr10:g.43113628G>A
cDNA c.1832G>A
Protein p.C611Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_020975 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113628G>A c.1832G>A p.C611Y RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C611Y medullary thyroid carcinoma sensitive Selpercatinib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial (LIBRETTO-001) that supported FDA approval, Retevmo (selpercatinib) treatment resulted in an objective response rate (ORR) of 69% (38/55, 5 complete and 33 partial responses) in previously treated adult and pediatric patients of 12 years and older with medullary thyroid cancer harboring RET mutations as detected by an approved test, including RET C611Y; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). detail... 32846061 detail...