chr10:43114502:C>G Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,609,950-43,609,950 View the variant detail on this assembly version. |
| hg38 | chr10:43,114,502-43,114,502 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.1902C>G | NP_065681.1:p.Cys634Trp |
| NM_020975.4:c.1902C>G | NP_066124.1:p.Cys634Trp | |
| Ensemble | ENST00000340058.6:c.1902C>G | ENST00000340058.6:p.Cys634Trp |
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
|
2024-03-07 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
germline
somatic
unknown
|
Detail |
|
Pathogenic
|
2007-09-27 | no assertion criteria provided | pheochromocytoma |
germline
|
Detail |
|
Pathogenic
|
2022-08-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
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 2B |
somatic
|
Detail |
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-03-10 | no assertion criteria provided | Medullary thyroid carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | Multiple endocrine neoplasia, type 1 |
somatic
|
Detail |
|
Pathogenic
|
2024-01-01 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Pathogenic
|
2021-12-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| thyroid gland medullary carcinoma | Motesanib | D |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 21422803 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
| 0.605 | pheochromocytoma | NA | CLINVAR | Detail | |
| 0.614 | multiple endocrine neoplasia type 2A | Age-related neoplastic risk profiles and penetrance estimations in multiple endo... | BeFree | 18794325 | Detail |
| 0.320 | Medullary carcinoma of thyroid | Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, w... | BeFree | 21325074 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Medullary thyroid cancer cells with RET C634W mutation are insensitive to motesanib, compared to wil... | CIViC Evidence | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Pheochromocytoma | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 4 | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Thyroid tumor | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia, type 1 | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type... | DisGeNET | Detail |
| Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, were done to assess t... | 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
- rs77709286 dbSNP
- Genome
- hg38
- Position
- chr10:43,114,502-43,114,502
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- C634W
- Transcript 1 (CIViC Variant)
- ENST00000355710.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/112
- Summary (CIViC Variant)
- RET C634W has been implicated as an alternate mechanism of activating RET in medullary thyroid cancer. 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 C634W mutation may lead to drug resistance, especially against the VEGFR-inhibitor motesanib.
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