chr10:43113622:G>A Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,609,070-43,609,070 View the variant detail on this assembly version. |
| hg38 | chr10:43,113,622-43,113,622 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.1826G>A | NP_065681.1:p.Cys609Tyr |
| NM_020975.4:c.1826G>A | NP_066124.1:p.Cys609Tyr | |
| Ensemble | ENST00000340058.6:c.1826G>A | ENST00000340058.6:p.Cys609Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2017-02-28 | no assertion criteria provided | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE |
germline
|
Detail |
|
Pathogenic
|
2022-05-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-21 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Pathogenic
|
2023-04-18 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
somatic
unknown
germline
|
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 |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | multiple endocrine neoplasia type 2B |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | multiple endocrine neoplasia type 4 |
somatic
|
Detail |
|
Pathogenic
|
2018-12-20 | criteria provided, single submitter | familial medullary thyroid carcinoma |
unknown
|
Detail |
not provided
|
no assertion provided | multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
unknown
|
Detail | |
|
not provided
|
no assertion provided | multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
unknown
|
Detail | |
|
Pathogenic
|
2021-12-06 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-09-23 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Pathogenic
|
2024-02-16 | criteria provided, single submitter | RET-related disorder |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| thyroid gland medullary carcinoma | B |
Predisposing
|
Supports
|
Pathogenic | Rare Germline | 4 | 19472011 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
| 0.522 | familial medullary thyroid carcinoma | The predisposing RET mutation in all seven families had been previously reported... | BeFree | 9384613 | Detail |
| 0.320 | Medullary carcinoma of thyroid | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
| 0.006 | Hyperparathyroidism, Primary | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
| 0.605 | pheochromocytoma | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
| 0.320 | Medullary carcinoma of thyroid | In conclusion, at variance from what already known, in this large kindred the Cy... | BeFree | 19475497 | Detail |
| 0.614 | multiple endocrine neoplasia type 2A | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
| 0.605 | pheochromocytoma | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
| 0.006 | Hyperparathyroidism, Primary | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
| 0.305 | multiple endocrine neoplasia | Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... | BeFree | 16343103 | Detail |
| 0.320 | Medullary carcinoma of thyroid | In this short review article, we comment on our previous report of a large multi... | BeFree | 22584703 | Detail |
| 0.614 | multiple endocrine neoplasia type 2A | Two mutations (C609Y and C620R) we identified have previously been associated wi... | UNIPROT | 7633441 | Detail |
| 0.200 | Hirschsprung disease, susceptibility to, 1 | Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. | UNIPROT | 7633441 | Detail |
| 0.522 | familial medullary thyroid carcinoma | Two mutations (C609Y and C620R) we identified have previously been associated wi... | UNIPROT | 7633441 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Study of a family with three generations of history indicating co-segregation of RET C609Y and multi... | CIViC Evidence | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRU... | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia, type 1 | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 4 | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Familial medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND RET-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a... | DisGeNET | Detail |
| Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
| In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
| In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
| In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... | DisGeNET | Detail |
| In this short review article, we comment on our previous report of a large multiple endocrine neopla... | DisGeNET | Detail |
| Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
| In this short review article, we comment on our previous report of a large multiple endocrine neopla... | DisGeNET | Detail |
| Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... | DisGeNET | Detail |
| In this short review article, we comment on our previous report of a large multiple endocrine neopla... | DisGeNET | Detail |
| Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrin... | DisGeNET | Detail |
| Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. | DisGeNET | Detail |
| Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrin... | 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
- rs77939446 dbSNP
- Genome
- hg38
- Position
- chr10:43,113,622-43,113,622
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- C609Y
- Transcript 1 (CIViC Variant)
- ENST00000355710.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1260
- Summary (CIViC Variant)
- There is some functional evidence that this variant leads to reduced RET activity (PMID: 9230192) and increased cell proliferation and resistance to apoptosis (PMID: 16715139). It has been widely reported in both familial and sporadic cases of multiple endocrine neoplasia type 2 with medullary thyroid cancers. Despite extensive WGS and Exome coverage for a combined total of ~150k alleles in the GNOMAD browser, this variant has never been observed.
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