chr10:43120144:T>G Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,615,592-43,615,592 View the variant detail on this assembly version. |
| hg38 | chr10:43,120,144-43,120,144 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.2671T>G | NP_065681.1:p.Ser891Ala |
| NM_020975.4:c.2671T>G | NP_066124.1:p.Ser891Ala | |
| Ensemble | ENST00000340058.6:c.2671T>G | ENST00000340058.6:p.Ser891Ala |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-05 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
unknown
somatic
germline
|
Detail |
|
Pathogenic
|
2020-04-02 | criteria provided, single submitter | familial medullary thyroid carcinoma |
germline
|
Detail |
|
Pathogenic
|
2024-02-05 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Pathogenic
|
2023-08-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-07-07 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
somatic
unknown
|
Detail |
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | multiple endocrine neoplasia type 4 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | Multiple endocrine neoplasia, type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | Medullary thyroid carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2021-08-06 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-23 | criteria provided, single submitter | MEN2 phenotype: Unclassified |
germline
|
Detail |
|
Pathogenic
|
2021-08-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2021-08-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2021-08-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2021-08-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2021-08-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2023-07-20 | criteria provided, single submitter | Multiple endocrine neoplasia II,Medullary thyroid carcinoma |
germline
|
Detail |
|
Pathogenic
|
2023-07-20 | criteria provided, single submitter | Multiple endocrine neoplasia II,Medullary thyroid carcinoma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
| 0.522 | familial medullary thyroid carcinoma | NA | CLINVAR | Detail | |
| 0.179 | Papillary thyroid carcinoma | Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset RE... | BeFree | 21626080 | Detail |
| 0.320 | Medullary carcinoma of thyroid | Here we describe a novel intracellular mutation in exon 15 of the ret gene that ... | BeFree | 9398735 | Detail |
| 0.320 | Medullary carcinoma of thyroid | The other two patients are members of a large multigenerational family affected ... | BeFree | 15947103 | Detail |
| 0.522 | familial medullary thyroid carcinoma | Here we describe a novel intracellular mutation in exon 15 of the ret gene that ... | UNIPROT | 9398735 | Detail |
| 0.522 | familial medullary thyroid carcinoma | The rare intracellular RET mutation p.S891A in a Chinese Han family with familia... | BeFree | 24845513 | Detail |
| <0.001 | familial medullary thyroid carcinoma | Using inhibitors and dominant negative constructs, we have demonstrated that RET... | BeFree | 17209045 | Detail |
| 0.605 | pheochromocytoma | Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: re... | BeFree | 24449023 | Detail |
| 0.614 | multiple endocrine neoplasia type 2A | The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare... | BeFree | 20554711 | Detail |
| <0.001 | familial medullary thyroid carcinoma | Using inhibitors and dominant negative constructs, we have demonstrated that RET... | BeFree | 17209045 | Detail |
| <0.001 | familial medullary thyroid carcinoma | Using inhibitors and dominant negative constructs, we have demonstrated that RET... | BeFree | 17209045 | Detail |
| 0.614 | multiple endocrine neoplasia type 2A | We report a rare case with pheochromocytoma as the first manifestation of multip... | BeFree | 24449023 | Detail |
| 0.258 | Thyroid Neoplasm | Nevertheless, an extensive molecular analysis that included all codons was promp... | BeFree | 23295303 | Detail |
| <0.001 | familial medullary thyroid carcinoma | Using inhibitors and dominant negative constructs, we have demonstrated that RET... | BeFree | 17209045 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Familial medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Multiple endocrine neoplasia type 4 | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Multiple endocrine neoplasia, type 1 | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND MEN2 phenotype: Unclassified | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset REarranged during Tran... | DisGeNET | Detail |
| Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substit... | DisGeNET | Detail |
| The other two patients are members of a large multigenerational family affected with familial MTC du... | DisGeNET | Detail |
| Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substit... | DisGeNET | Detail |
| The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid ... | DisGeNET | Detail |
| Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... | DisGeNET | Detail |
| Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case. | DisGeNET | Detail |
| The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET m... | DisGeNET | Detail |
| Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... | DisGeNET | Detail |
| Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... | DisGeNET | Detail |
| We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplas... | DisGeNET | Detail |
| Nevertheless, an extensive molecular analysis that included all codons was prompted by the diagnosis... | DisGeNET | Detail |
| Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... | 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
- rs75234356 dbSNP
- Genome
- hg38
- Position
- chr10:43,120,144-43,120,144
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser