chr12:69202580:T>G Detail (hg19) (MDM2, LOC126861563)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:69,202,580-69,202,580 |
| hg38 | chr12:68,808,800-68,808,800 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001145339.2:c.14+309T>G | |
| NM_002392.5:c.14+309T>G | ||
| Ensemble | ENST00000393412.7:c.-5+309T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.547 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-12-06 | criteria provided, single submitter | Accelerated tumor formation, susceptibility to |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| head and neck cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Common Germline | 2 | 26916894 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
| 0.129 | liver carcinoma | Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... | BeFree | 21240526 | Detail |
| 0.017 | liver carcinoma | Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... | BeFree | 21240526 | Detail |
| 0.030 | liver carcinoma | Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... | BeFree | 21240526 | Detail |
| <0.001 | Multiple tumors | Several studies have examined the prognostic value of the TP53 Arg72Pro polymorp... | BeFree | 23423487 | Detail |
| 0.002 | Multiple tumors | Several studies have examined the prognostic value of the TP53 Arg72Pro polymorp... | BeFree | 23423487 | Detail |
| 0.219 | Non-small cell lung carcinoma | This study investigated whether the functional polymorphisms in P53 pathway gene... | BeFree | 21841506 | Detail |
| 0.010 | adenocarcinoma | We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2 SNP309... | BeFree | 24175836 | Detail |
| <0.001 | neutropenia | MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and c... | BeFree | 24732641 | Detail |
| <0.001 | Small cell lung cancer extensive stage | MDM2 rs2279744 and TP53 rs1042522 SNPs were associated with EP-induced high-grad... | BeFree | 24732641 | Detail |
| <0.001 | neutropenia | MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and c... | BeFree | 24732641 | Detail |
| 0.044 | liver carcinoma | Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with ... | BeFree | 21240526 | Detail |
| 0.022 | liver carcinoma | Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with ... | BeFree | 21240526 | Detail |
| 0.008 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| <0.001 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.006 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.001 | stomach carcinoma | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| 0.002 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.019 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.005 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| <0.001 | Malignant neoplasm of stomach | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| 0.002 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| <0.001 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.120 | Accelerated tumor formation, susceptibility to | NA | CLINVAR | Detail | |
| 0.022 | liver carcinoma | Thus, the findings from the meta-analysis support that MDM2 rs2279744 polymorphi... | BeFree | 24061636 | Detail |
| 0.004 | uterine corpus cancer | MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | BeFree | 24293392 | Detail |
| 0.035 | Carcinogenesis | Our pooled data suggest evidence for a major role of MDM2 rs2279744 polymorphism... | BeFree | 24293392 | Detail |
| 0.006 | endometrial carcinoma | MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | BeFree | 24293392 | Detail |
| 0.008 | Malignant neoplasm of stomach | MDM2 SNP309 rs2279744 polymorphism and gastric cancer risk: a meta-analysis. | BeFree | 23451111 | Detail |
| 0.006 | stomach carcinoma | MDM2 SNP309 rs2279744 polymorphism and gastric cancer risk: a meta-analysis. | BeFree | 23451111 | Detail |
| 0.012 | osteosarcoma | [Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade... | GAD | 19451596 | Detail |
| 0.004 | Malignant neoplasm of endometrium | MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | BeFree | 24293392 | Detail |
| <0.001 | Hepatocarcinogenesis | These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD... | BeFree | 22004425 | Detail |
| <0.001 | leukopenia | MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and c... | BeFree | 24732641 | Detail |
| <0.001 | leukopenia | MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and c... | BeFree | 24732641 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 66 HNSCC patients treated with chemoradiation were assessed for survival after a follow-up time of 1... | CIViC Evidence | Detail |
| NM_002392.6(MDM2):c.14+309T>G AND Accelerated tumor formation, susceptibility to | ClinVar | Detail |
| This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
| Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... | DisGeNET | Detail |
| Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... | DisGeNET | Detail |
| Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... | DisGeNET | Detail |
| Several studies have examined the prognostic value of the TP53 Arg72Pro polymorphism (rs1042522) and... | DisGeNET | Detail |
| Several studies have examined the prognostic value of the TP53 Arg72Pro polymorphism (rs1042522) and... | DisGeNET | Detail |
| This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... | DisGeNET | Detail |
| We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2 SNP309 (rs2279744) genotyp... | DisGeNET | Detail |
| MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and cisplatin-induced gra... | DisGeNET | Detail |
| MDM2 rs2279744 and TP53 rs1042522 SNPs were associated with EP-induced high-grade neutropenia in ext... | DisGeNET | Detail |
| MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and cisplatin-induced gra... | DisGeNET | Detail |
| Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiolog... | DisGeNET | Detail |
| Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiolog... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, the findings from the meta-analysis support that MDM2 rs2279744 polymorphism is significantly ... | DisGeNET | Detail |
| MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | DisGeNET | Detail |
| Our pooled data suggest evidence for a major role of MDM2 rs2279744 polymorphism in the carcinogenes... | DisGeNET | Detail |
| MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | DisGeNET | Detail |
| MDM2 SNP309 rs2279744 polymorphism and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| MDM2 SNP309 rs2279744 polymorphism and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| [Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma develo... | DisGeNET | Detail |
| MDM2 rs2279744 polymorphism and endometrial cancer: a meta-analysis. | DisGeNET | Detail |
| These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP16... | DisGeNET | Detail |
| MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and cisplatin-induced gra... | DisGeNET | Detail |
| MDM2 rs2279744 and TP53 rs1042522 polymorphisms associated with etoposide- and cisplatin-induced gra... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2279744 dbSNP
- Genome
- hg19
- Position
- chr12:69,202,580-69,202,580
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2279744
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5471
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9166
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
- Variant (CIViC) (CIViC Variant)
- SNP309
- Transcript 1 (CIViC Variant)
- ENST00000462284.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/495
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