chr10:43121968:T>C Detail (hg38) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,617,416-43,617,416 View the variant detail on this assembly version. |
hg38 | chr10:43,121,968-43,121,968 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.2753T>C | NP_065681.1:p.Met918Thr |
NM_020975.4:c.2753T>C | NP_066124.1:p.Met918Thr | |
Ensemble | ENST00000340058.6:c.2753T>C | ENST00000340058.6:p.Met918Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2018/03/08 | thyroid medullary carcinoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-05-21 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2B |
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Detail |
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1998-05-07 | no assertion criteria provided | Thyroid carcinoma, sporadic medullary |
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Detail |
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1998-05-07 | no assertion criteria provided | pheochromocytoma |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-12-22 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
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Detail |
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2020-12-15 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
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Detail |
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2014-12-08 | criteria provided, single submitter | tetralogy of Fallot,Hypertelorism |
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Detail |
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2014-12-08 | criteria provided, single submitter | tetralogy of Fallot,Hypertelorism |
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Detail |
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2017-08-02 | criteria provided, single submitter | Medullary thyroid carcinoma |
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Detail |
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2016-05-13 | no assertion criteria provided | Multiple endocrine neoplasia, type 1 |
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Detail |
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2014-10-02 | no assertion criteria provided | Thyroid tumor |
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Detail |
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2016-05-13 | no assertion criteria provided | multiple endocrine neoplasia type 4 |
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Detail |
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2019-04-16 | criteria provided, single submitter | not specified |
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Detail |
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2022-12-23 | criteria provided, multiple submitters, no conflicts | familial medullary thyroid carcinoma |
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Detail |
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2024-03-29 | criteria provided, multiple submitters, no conflicts | Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2022-03-11 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-21 | criteria provided, single submitter | RET-related disorder |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
thyroid gland medullary carcinoma | Sorafenib | B |
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Sensitivity/Response | Somatic | 3 | 20368568 | Detail |
thyroid gland medullary carcinoma | B |
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Positive | Somatic | 5 | 18073307 | Detail | |
thyroid gland medullary carcinoma | Motesanib | D |
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Resistance | Somatic | 3 | 21422803 | Detail |
thyroid gland medullary carcinoma | JAK2 Inhibitor AZD1480 | D |
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Sensitivity/Response | Somatic | 3 | 23056499 | Detail |
thyroid gland medullary carcinoma | Cabozantinib | B |
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Sensitivity/Response | Somatic | 4 | 27525386 | Detail |
thyroid gland medullary carcinoma | B |
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Poor Outcome | Somatic | 4 | 9839497 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.320 | Medullary carcinoma of thyroid | Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di... | BeFree | 21186952 | Detail |
0.614 | multiple endocrine neoplasia type 2A | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of R... | BeFree | 10679286 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di... | BeFree | 21186952 | Detail |
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
0.592 | multiple endocrine neoplasia type 2B | NA | CLINVAR | Detail | |
0.592 | multiple endocrine neoplasia type 2B | Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T a... | BeFree | 10369718 | Detail |
<0.001 | Ganglioneuromatosis | Early recognition of intestinal ganglioneuromatosis with germline RET M918T muta... | BeFree | 10369718 | Detail |
0.614 | multiple endocrine neoplasia type 2A | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | BeFree | 22199277 | Detail |
<0.001 | multiple endocrine neoplasia type 2B | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.592 | multiple endocrine neoplasia type 2B | The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and... | BeFree | 7559902 | Detail |
0.001 | multiple endocrine neoplasia type 2B | A single RET mutation, resulting in the substitution M918T, has been identified ... | BeFree | 9294615 | Detail |
0.605 | pheochromocytoma | NA | CLINVAR | Detail | |
0.614 | multiple endocrine neoplasia type 2A | The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and... | BeFree | 7559902 | Detail |
0.001 | Medullary carcinoma of thyroid | We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VE... | BeFree | 24754736 | Detail |
0.320 | Medullary carcinoma of thyroid | We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VE... | BeFree | 24754736 | Detail |
<0.001 | Medullary carcinoma of thyroid | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Renal aplasia in humans is associated with RET mutations. | UNIPROT | 18252215 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point... | BeFree | 9270546 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Single oligoarray-based detection of specific M918T mutation in RET oncogene in ... | BeFree | 21253810 | Detail |
0.592 | multiple endocrine neoplasia type 2B | More than 50% of patients with typical MEN-2B have a de novo M918T germline muta... | BeFree | 15517484 | Detail |
0.005 | Secondary malignant neoplasm of lymph node | In the present work, a comparative genomic hybridization (CGH) study was perform... | BeFree | 22676344 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Although there were no syndromic features or a positive family history, mutation... | BeFree | 16808642 | Detail |
0.320 | Medullary carcinoma of thyroid | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.614 | multiple endocrine neoplasia type 2A | RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wil... | BeFree | 11389085 | Detail |
<0.001 | multiple endocrine neoplasia | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.305 | multiple endocrine neoplasia | The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and... | BeFree | 7559902 | Detail |
<0.001 | Medullary carcinoma of thyroid | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Detailed information was gathered regarding the development of MEN 2B-associated... | BeFree | 19041016 | Detail |
0.592 | multiple endocrine neoplasia type 2B | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.320 | Medullary carcinoma of thyroid | Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all... | BeFree | 19041016 | Detail |
0.305 | multiple endocrine neoplasia | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
<0.001 | multiple endocrine neoplasia type 2B | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.592 | multiple endocrine neoplasia type 2B | Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patie... | BeFree | 23979292 | Detail |
0.109 | Thyroid carcinoma | CGH alterations in medullary thyroid carcinomas in relation to the RET M918T mut... | BeFree | 11351254 | Detail |
0.592 | multiple endocrine neoplasia type 2B | RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wil... | BeFree | 11389085 | Detail |
0.001 | multiple endocrine neoplasia type 2B | A single RET mutation, resulting in the substitution M918T, has been identified ... | BeFree | 9294615 | Detail |
0.592 | multiple endocrine neoplasia type 2B | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | BeFree | 22199277 | Detail |
<0.001 | multiple endocrine neoplasia | In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nucl... | BeFree | 15485908 | Detail |
0.320 | Medullary carcinoma of thyroid | Low prevalence of the somatic M918T RET mutation in micro-medullary thyroid canc... | BeFree | 22404432 | Detail |
0.320 | Medullary carcinoma of thyroid | The ensuing molecular genetic analysis revealed a M918T mutation of the RET prot... | BeFree | 17848262 | Detail |
0.522 | familial medullary thyroid carcinoma | Renal aplasia in humans is associated with RET mutations. | UNIPROT | 18252215 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In a phase 2 clinical trial of sorafenib in patients with hereditary or sporadic advanced medullary ... | CIViC Evidence | Detail |
In patients with medullary carcinoma, the presence of RET M918T mutation is associated with increase... | CIViC Evidence | Detail |
Medullary thyroid cancer cells with RET M918T mutation are insensitive to motesanib, compared to wil... | CIViC Evidence | Detail |
The use of AZD1480 on RET-mutated/rearranged cell lines in vitro led to strong repression of tyroid ... | CIViC Evidence | Detail |
Cabozantinib significantly prolonged progression-free survival (PFS) versus placebo in patients with... | CIViC Evidence | Detail |
Compared to those who harbor a wild type RET, patients with RET M918T mutation develop larger and mo... | CIViC Evidence | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Thyroid carcinoma, sporadic medullary | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Pheochromocytoma | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND multiple conditions | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Medullary thyroid carcinoma | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Multiple endocrine neoplasia, type 1 | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Thyroid tumor | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Multiple endocrine neoplasia type 4 | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND not specified | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Familial medullary thyroid carcinoma | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND RET-related disorder | ClinVar | Detail |
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole... | DisGeNET | Detail |
Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y8... | DisGeNET | Detail |
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular... | DisGeNET | Detail |
Early recognition of intestinal ganglioneuromatosis with germline RET M918T mutation in pseudo-Hirsc... | DisGeNET | Detail |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently li... | DisGeNET | Detail |
A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of M... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently li... | DisGeNET | Detail |
We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VEGF, VEGFR1, VEGFR2, ... | DisGeNET | Detail |
We assessed by immunohistochemistry the expression of EGFR, KIT, MET, PDGFRB, VEGF, VEGFR1, VEGFR2, ... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
Renal aplasia in humans is associated with RET mutations. | DisGeNET | Detail |
Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point mutation in the MEN... | DisGeNET | Detail |
Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine n... | DisGeNET | Detail |
More than 50% of patients with typical MEN-2B have a de novo M918T germline mutation of the RET prot... | DisGeNET | Detail |
In the present work, a comparative genomic hybridization (CGH) study was performed using DNA from a ... | DisGeNET | Detail |
Although there were no syndromic features or a positive family history, mutation analysis of the RET... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activate... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently li... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
Detailed information was gathered regarding the development of MEN 2B-associated symptoms from the p... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carrie... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutat... | DisGeNET | Detail |
CGH alterations in medullary thyroid carcinomas in relation to the RET M918T mutation and clinical o... | DisGeNET | Detail |
RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activate... | DisGeNET | Detail |
A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of M... | DisGeNET | Detail |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | DisGeNET | Detail |
In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of ST... | DisGeNET | Detail |
Low prevalence of the somatic M918T RET mutation in micro-medullary thyroid cancer. | DisGeNET | Detail |
The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is ... | DisGeNET | Detail |
Renal aplasia in humans is associated with RET mutations. | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs74799832 dbSNP
- Genome
- hg38
- Position
- chr10:43,121,968-43,121,968
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- M918T
- Transcript 1 (CIViC Variant)
- ENST00000355710.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/113
- Summary (CIViC Variant)
- RET M819T is the most common somatically acquired mutation in medullary thyroid cancer (MTC). While there currently are no RET-specific inhibiting agents, promiscuous kinase inhibitors have seen some success in treating RET overactivity. Data suggests however, that the M918T mutation may lead to drug resistance, especially against the VEGFR-inhibitor motesanib. It has also been suggested that RET M819T leads to more aggressive MTC with a poorer prognosis.
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