chr12:57751648:G>A Detail (hg38) (CDK4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:58,145,431-58,145,431 View the variant detail on this assembly version. |
| hg38 | chr12:57,751,648-57,751,648 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000075.3:c.70C>T | NP_000066.1:p.Arg24Cys |
| Ensemble | ENST00000257904.11:c.70C>T | ENST00000257904.11:p.Arg24Cys |
| ENST00000312990.10:c.70C>T | ENST00000312990.10:p.Arg24Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-05-26 | criteria provided, single submitter | Melanoma, cutaneous malignant, susceptibility to, 3 |
unknown
|
Detail |
|
Pathogenic
|
2022-09-06 | criteria provided, multiple submitters, no conflicts | familial melanoma |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Pathogenic
|
2016-04-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-12-27 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 1 | 24495407 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.038 | Neoplasm Metastasis | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.001 | Compensatory Hyperinsulinemia | The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with... | BeFree | 18678431 | Detail |
| 0.004 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | Recently two different mice models prone to develop MCL-like lymphomas were gene... | BeFree | 22592113 | Detail |
| 0.061 | melanoma | Autochthonous primary and metastatic melanomas in Hgf-Cdk4 R24C mice evade T-cel... | BeFree | 20649939 | Detail |
| <0.001 | papilloma | In addition, Cdk4(R24C/R24C) mice showed extraordinary susceptibility to carcino... | BeFree | 11756559 | Detail |
| 0.009 | Carcinogenesis | Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and ... | BeFree | 11756559 | Detail |
| 0.061 | melanoma | The observation that a wide variety of tumors develop in mice harboring the Cdk4... | BeFree | 11756559 | Detail |
| 0.360 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| 0.231 | obesity | The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with... | BeFree | 18678431 | Detail |
| <0.001 | Testicular Neoplasms | However, 'knock-in' mice homozygous for the CDK4(R24C) mutation were noted to de... | BeFree | 12904177 | Detail |
| 0.005 | Neoplasm Metastasis | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.020 | melanoma | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.002 | leukemia | Absence of R24C mutation of the CDK4 gene in leukemias and solid tumors. | BeFree | 12731669 | Detail |
| <0.001 | Compensatory Hyperinsulinemia | The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with... | BeFree | 18678431 | Detail |
| 0.061 | melanoma | These results suggest a crucial role of keratinocytic RXRα to suppress formation... | BeFree | 25189354 | Detail |
| 0.150 | Neoplasm Metastasis | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.360 | melanoma | A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CD... | BeFree | 12731669 | Detail |
| 0.081 | Diabetes Mellitus, Insulin-Dependent | Pancreatic islets from cyclin-dependent kinase 4/R24C (Cdk4) knockin mice have s... | BeFree | 15298346 | Detail |
| 0.015 | melanoma | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanoma... | BeFree | 16707471 | Detail |
| 0.061 | melanoma | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanoma... | BeFree | 16707471 | Detail |
| 0.061 | melanoma | In the case of CDK4, only one specific mutation, resulting in the substitution o... | BeFree | 9416844 | Detail |
| <0.001 | Diabetes | Transgenic expression of a mutated cyclin-dependent kinase 4 (CDK4/R24C) in panc... | BeFree | 18678431 | Detail |
| 0.061 | melanoma | As the pivotal residues around the most predominant R24C activating CDK4 mutatio... | BeFree | 11479422 | Detail |
| 0.061 | melanoma | We previously showed that mice carrying an activated Cdk4 mutation together with... | BeFree | 18386818 | Detail |
| 0.360 | Melanoma, cutaneous malignant, susceptibility to, 3 | Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. | UNIPROT | 8528263 | Detail |
| <0.001 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| <0.001 | Melanoma, B16 | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanoma... | BeFree | 16707471 | Detail |
| 0.125 | Hereditary Melanoma | This mutation (replacement of Arg24 by Cys) was first found in patients with her... | BeFree | 11726500 | Detail |
| <0.001 | diabetes mellitus | Transgenic expression of a mutated cyclin-dependent kinase 4 (CDK4/R24C) in panc... | BeFree | 18678431 | Detail |
| <0.001 | Melanoma, B16 | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanoma... | BeFree | 16707471 | Detail |
| 0.006 | obesity | The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with... | BeFree | 18678431 | Detail |
| 0.125 | Hereditary Melanoma | NA | CLINVAR | Detail | |
| 0.002 | melanoma | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.061 | melanoma | We previously noted that melanomas developing in Cdk4(R24C/R24C) ::Tyr-NRAS, Arf... | BeFree | 23724991 | Detail |
| 0.440 | obesity | The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with... | BeFree | 18678431 | Detail |
| 0.008 | Neoplasm Metastasis | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin fo... | BeFree | 16707471 | Detail |
| 0.061 | melanoma | A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CD... | BeFree | 12731669 | Detail |
| 0.009 | Carcinogenesis | These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gen... | BeFree | 12904177 | Detail |
| <0.001 | Multiple tumors | Moreover, homozygous Cdk4(R24C/R24C) mutant mice develop multiple tumors with al... | BeFree | 11726500 | Detail |
| 0.360 | Melanoma, cutaneous malignant, susceptibility to, 3 | NA | CLINVAR | Detail | |
| 0.360 | melanoma | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement o... | BeFree | 12904177 | Detail |
| 0.061 | melanoma | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement o... | BeFree | 12904177 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a cohort of 143 patients with primary invasive melanoma, copy-number gain of CDK4 was observed (F... | CIViC Evidence | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Familial melanoma | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Multiple myeloma | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND not provided | ClinVar | Detail |
| NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with compensatory hyperi... | DisGeNET | Detail |
| Recently two different mice models prone to develop MCL-like lymphomas were generated: c-myc-3'RR/Cd... | DisGeNET | Detail |
| Autochthonous primary and metastatic melanomas in Hgf-Cdk4 R24C mice evade T-cell-mediated immune su... | DisGeNET | Detail |
| In addition, Cdk4(R24C/R24C) mice showed extraordinary susceptibility to carcinogens and developed p... | DisGeNET | Detail |
| Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and escape from cellular... | DisGeNET | Detail |
| The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offe... | DisGeNET | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with compensatory hyperi... | DisGeNET | Detail |
| However, 'knock-in' mice homozygous for the CDK4(R24C) mutation were noted to develop multiple neopl... | DisGeNET | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| Absence of R24C mutation of the CDK4 gene in leukemias and solid tumors. | DisGeNET | Detail |
| The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with compensatory hyperi... | DisGeNET | Detail |
| These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced mela... | DisGeNET | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has ... | DisGeNET | Detail |
| Pancreatic islets from cyclin-dependent kinase 4/R24C (Cdk4) knockin mice have significantly increas... | DisGeNET | Detail |
| Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject tra... | DisGeNET | Detail |
| Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject tra... | DisGeNET | Detail |
| In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an ... | DisGeNET | Detail |
| Transgenic expression of a mutated cyclin-dependent kinase 4 (CDK4/R24C) in pancreatic beta-cells pr... | DisGeNET | Detail |
| As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant betw... | DisGeNET | Detail |
| We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific... | DisGeNET | Detail |
| Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. | DisGeNET | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject tra... | DisGeNET | Detail |
| This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and... | DisGeNET | Detail |
| Transgenic expression of a mutated cyclin-dependent kinase 4 (CDK4/R24C) in pancreatic beta-cells pr... | DisGeNET | Detail |
| Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject tra... | DisGeNET | Detail |
| The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with compensatory hyperi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| We previously noted that melanomas developing in Cdk4(R24C/R24C) ::Tyr-NRAS, Arf(-/-) ::Tyr-NRAS and... | DisGeNET | Detail |
| The db/db-CDK4(R24C) mice present a novel model of leptin-resistant obesity with compensatory hyperi... | DisGeNET | Detail |
| HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal car... | DisGeNET | Detail |
| A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has ... | DisGeNET | Detail |
| These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gene, causing various e... | DisGeNET | Detail |
| Moreover, homozygous Cdk4(R24C/R24C) mutant mice develop multiple tumors with almost complete penetr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or Hi... | DisGeNET | Detail |
| Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or Hi... | 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
- rs11547328 dbSNP
- Genome
- hg38
- Position
- chr12:57,751,648-57,751,648
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.155802126675913E-4
- Chromosome Counts in All Race (ExAC)
- 121378
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.2387253044209E-6
- Variant (CIViC) (CIViC Variant)
- R24C
- Transcript 1 (CIViC Variant)
- ENST00000257904.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/556
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