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Gene RET
Variant F612_C620del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions RET F612_C620del results in the deletion of nine amino acids in the extracellular domain of the Ret protein from amino acids 612 to 620 (UniProt.org). F612_C620del has been identified in sequencing studies (PMID: 25157968, PMID: 9587071), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

RET mutant RET F612_C620del

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Transcript NM_020975.6
gDNA chr10:g.43113630_43113656del27
cDNA c.1834_1860del27
Protein p.F612_C620delFPEEEKCFC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406772.1 chr10:g.43116677_43116703del27 c.1834_1860del27 p.F612_Y620delFHLKGRAGY RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43116720_43118387del1668 c.1835_1861del1668 p.K612_P620delKMLKENASP RefSeq GRCh38/hg38
NM_001406778.1 chr10:g.43119698_43119724del27 c.1834_1860del27 p.F612_M620delFAWQISQGM RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123729_43123755del27 c.1834_1860del27 p.G612_N620delGIPPERLFN RefSeq GRCh38/hg38
NM_001406791.1 chr10:g.43126674_43126700del27 c.1834_1860del27 p.P612_T620delPLPRALPST RefSeq GRCh38/hg38
NM_001406768.1 chr10:g.43114698_43114724del27 c.1834_1860del27 p.M612_A620delMENQVSVDA RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406776.1 chr10:g.43119698_43119724del27 c.1834_1860del27 p.F612_M620delFAWQISQGM RefSeq GRCh38/hg38
NM_001406777.1 chr10:g.43119698_43119724del27 c.1834_1860del27 p.F612_M620delFAWQISQGM RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406782.1 chr10:g.43121946_43121972del27 c.1834_1860del27 p.G612_A620delGRIPVKWMA RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43114563_43114589del27 c.1834_1860del27 p.F612_F620delFCIHCYHKF RefSeq GRCh38/hg38
NM_001406792.1 chr10:g.43128207_43128233del27 c.1834_1860del27 p.V612_P620delVYANWMLSP RefSeq GRCh38/hg38
NM_001406780.1 chr10:g.43121946_43121972del27 c.1834_1860del27 p.G612_A620delGRIPVKWMA RefSeq GRCh38/hg38
NM_001406787.1 chr10:g.43123735_43123761del27 c.1834_1860del27 p.P612_L620delPPERLFNLL RefSeq GRCh38/hg38
NM_001406785.1 chr10:g.43123721_43123747del27 c.1835_1861del27 p.P612_R620delPYPGIPPER RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43114563_43114589del27 c.1834_1860del27 p.F612_F620delFCIHCYHKF RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406770.1 chr10:g.43114722_43116595del1874 c.1834_1860del1874 p.A612_K620delAFKILEDPK RefSeq GRCh38/hg38
NM_001406767.1 chr10:g.43114722_43116595del1874 c.1834_1860del1874 p.A612_K620delAFKILEDPK RefSeq GRCh38/hg38
NM_001406784.1 chr10:g.43123693_43123719del27 c.1834_1860del27 p.W612_N620delWEIVTLGGN RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43116677_43116703del27 c.1834_1860del27 p.F612_Y620delFHLKGRAGY RefSeq GRCh38/hg38
NM_001406774.1 chr10:g.43118447_43118473del27 c.1834_1860del27 p.V612_S620delVIKLYGACS RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123729_43123755del27 c.1834_1860del27 p.G612_N620delGIPPERLFN RefSeq GRCh38/hg38
NM_001406775.1 chr10:g.43119698_43119724del27 c.1834_1860del27 p.F612_M620delFAWQISQGM RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406766.1 chr10:g.43114722_43116595del1874 c.1834_1860del1874 p.A612_K620delAFKILEDPK RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43124962_43126580del1619 c.1834_1860del1619 p.K612_Y620delKMMVKRRDY RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43124962_43126580del1619 c.1834_1860del1619 p.K612_Y620delKMMVKRRDY RefSeq GRCh38/hg38
NM_001355216.2 chr10:g.43119734_43120095del362 c.1834_1860del362 p.A612_D620delAEMKLVHRD RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_020630 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620del RefSeq GRCh38/hg38
NM_001406781.1 chr10:g.43121946_43121972del27 c.1834_1860del27 p.G612_A620delGRIPVKWMA RefSeq GRCh38/hg38
NM_020975 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43114563_43114589del27 c.1834_1860del27 p.F612_F620delFCIHCYHKF RefSeq GRCh38/hg38
NM_001406790.1 chr10:g.43124962_43126580del1619 c.1834_1860del1619 p.K612_Y620delKMMVKRRDY RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43116720_43118387del1668 c.1835_1861del1668 p.K612_P620delKMLKENASP RefSeq GRCh38/hg38
NM_001355216.1 chr10:g.43119734_43120095del362 c.1834_1860del362 p.A612_D620delAEMKLVHRD RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113630_43113656del27 c.1834_1860del27 p.F612_C620delFPEEEKCFC RefSeq GRCh38/hg38
NM_001406779.1 chr10:g.43121946_43121972del27 c.1834_1860del27 p.G612_A620delGRIPVKWMA RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET mutant Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of cancer cell lines harboring RET mutations in cultured and in cell line xenograft models (PMID: 23526464). 23526464
RET mutant cancer sensitive Sorafenib Preclinical Actionable In a preclinical study, Nexavar (sorafenib) inhibited wild-type RET and RET mutations to prevent cell proliferation in cell culture (PMID: 17664273). 17664273
RET mutant Advanced Solid Tumor predicted - sensitive EP0031 Phase Ib/II Actionable In a Phase I/II trial (KL400-I/II-01), EP0031 treatment was well tolerated and demonstrated preliminary activity in patients with advanced solid tumors harboring mutations in RET, resulting in an objective response rate of 64%, with responses being observed in patients with non-small cell lung cancer, medullary thyroid cancer and pancreatic cancer (J Clin Oncol 41, 2023 (suppl 16; abstr 3007); NCT05265091). detail...
RET mutant colorectal cancer sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) demonstrated efficacy in RET mutant positive colorectal cancer cell lines (PMID: 23811235). 23811235
RET mutant thyroid gland medullary carcinoma sensitive Everolimus Phase II Actionable In a Phase II trial, Afinitor (everolimus) treatment resulted in stable disease in 71% (5/7) of medullary thyroid cancer patients, including patients harboring RET mutations, with median progression-free survival of 33 weeks (PMID: 26294908; NCT01118065). 26294908
RET mutant lung non-small cell carcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective clinical study, patients with non-small cell lung cancer harboring rare targetable drivers (RTD) (BRAF, ERBB2/3, RET, MET, ROS1, NTRK) who received immune checkpoint inhibitors (ICI) achieved longer median overall survival (mOS) (32 vs 13 mo, p=0.01) compared to those who did not receive ICI, mOS was 44.9 mo in a patient harboring RET mutation, although RTD type was not associated with OS in a univariate analysis (PMID: 30268448). 30268448
RET mutant thyroid gland medullary carcinoma sensitive Pralsetinib FDA approved Actionable In a Phase I/II trial (ARROW) that supported FDA approval, Gavreto (pralsetinib) treatment was well-tolerated and resulted in an overall response rate (ORR) of 60% (3/55) in patients with advanced or metastatic medullary thyroid cancer harboring RET mutations who received prior treatments, ORR was 60% (32/53) in patients with prior therapies and 71% (15/21) in treatment-naive patients (PMID: 34118198; NCT03037385). 34118198 detail...
RET mutant thyroid gland medullary carcinoma sensitive Pralsetinib Guideline Actionable Gavreto (pralsetinib) is included in guidelines (category 2B) for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org). detail...
RET mutant thyroid gland medullary carcinoma sensitive Pralsetinib Guideline Actionable Gavreto (pralsetinib) is included in guidelines for adult or pediatric patients 12 years or older with advanced or metastatic medullary thyroid gland carcinoma harboring RET mutations (PMID: 31549998, PMID: 35491008; ESMO.org). 31549998 detail... 35491008
RET mutant pheochromocytoma predicted - sensitive Sunitinib Case Reports/Case Series Actionable In a Phase II trial (SNIPP), a patient with pheochromocytoma harboring a germline RET mutation achieved a partial response to treatment with Sutent (sunitinib), and demonstrated a 64% reduction in tumor volume and remained on treatment for over 7 years (PMID: 31105270). 31105270
RET mutant thyroid gland medullary carcinoma sensitive Selpercatinib Guideline Actionable Retevmo (selpercatinib) is included in guidelines for adult or pediatric patients 12 years or older with advanced medullary thyroid gland carcinoma harboring RET mutations (PMID: 31549998, PMID: 35491008; ESMO.org). 31549998 detail... 35491008
RET mutant thyroid gland medullary carcinoma sensitive Selpercatinib Guideline Actionable Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org). detail...
RET mutant thyroid gland medullary carcinoma sensitive Selpercatinib FDA approved 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), with five complete and 33 partial responses, in adult and pediatric patients of 12 years and older with medullary thyroid cancer harboring RET mutations who were previously treated, while patients who had not been previously treated demonstrated an ORR of 73% (64/88), with ten complete and 54 partial responses (PMID: 32846061; NCT03157128). detail... detail... 32846061
RET mutant lung non-small cell carcinoma predicted - sensitive EP0031 Phase Ib/II Actionable In a Phase I/II trial (KL400-I/II-01), EP0031 treatment was well tolerated in non-small cell lung cancer (NSCLC) patients harboring RET mutations, and resulted in an objective response rate (ORR) of 63% (20/32, 1 complete response (CR)) and disease control rate (DCR) of 91% in pretreated patients, and an ORR of 76% (19/25, 1 CR) and DCR of 92% with median duration of response not reached in treatment-naive patients, and an overall CNS DCR of 100% (J Clin Oncol 41, 2023 (suppl 16; abstr 3007); NCT05265091). detail...
RET mutant thyroid gland medullary carcinoma sensitive Cabozantinib Phase III Actionable In a Phase III trial, Cometriq (cabozantinib) treatment resulted in improved progression free survival (60 vs 20 weeks) compared to placebo in thyroid medullary carcinoma patients harboring RET mutations (PMID: 27525386). 27525386