chr17:7674872:T>C Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,190-7,578,190 View the variant detail on this assembly version. |
hg38 | chr17:7,674,872-7,674,872 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.659A>G | NP_000537.3:p.Tyr220Cys |
NM_001126112.2:c.659A>G | NP_001119584.1:p.Tyr220Cys | |
NM_001276760.1:c.659A>G | NP_001263689.1:p.Tyr220Cys |
Summary
MGeND
Clinical significance |
![]() ![]() |
Variant entry | 2 |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
2017/04/03 | carcinoma, non-small-cell lung |
![]() |
MGS000014
(TMGS000028) |
Kohei Miyazono | Tokyo University | |||
![]() |
salivary gland neoplasms |
![]() |
MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2022-12-27 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2022-07-27 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
![]() |
2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
![]() ![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | glioblastoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Breast neoplasm |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided |
![]() |
Detail | |
![]() |
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
![]() |
Detail |
![]() |
criteria provided, single submitter | Squamous cell carcinoma of the head and neck |
![]() |
Detail | |
![]() |
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
![]() |
Detail |
![]() |
2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
![]() |
Detail |
![]() |
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
![]() |
Detail |
![]() |
2020-04-02 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
![]() |
Detail |
![]() |
2021-03-19 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
![]() |
Detail |
![]() |
2021-08-21 | no assertion criteria provided | breast carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2022-04-10 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary,Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer,Familial cancer of breast,hepatocellular carcinoma,bone osteosarcoma,Carcinoma of pancreas,Nasopharyngeal carcinoma |
![]() |
Detail |
![]() |
2021-07-01 | no assertion criteria provided | Gastric cancer |
![]() |
Detail |
![]() |
2023-01-30 | criteria provided, single submitter | TP53-related disorder |
![]() |
Detail |
![]() |
2023-09-03 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
![]() |
Detail |
![]() |
no assertion criteria provided | Adrenal cortex carcinoma |
![]() |
Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
stomach carcinoma | Mitomycin,Cisplatin,Etoposide | C |
![]() |
![]() |
Sensitivity/Response | Somatic | 3 | 14514923 | Detail |
cancer | AMGMDS3 | D |
![]() |
![]() |
Resistance | Somatic | 4 | 25730903 | Detail |
acute myeloid leukemia | D | Functional |
![]() |
Neomorphic |
![]() |
4 | 31395785 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail | |
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.369 | Li-Fraumeni syndrome | The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA f... | BeFree | 15977174 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
A male patient taking part in a 25 patient gastric cancer trial was diagnosed at age 50, harbored a ... | CIViC Evidence | Detail |
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
The Y220C mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. Y220C/- c... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND not provided | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Glioblastoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Breast neoplasm | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Malignant melanoma of skin | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Neoplasm of brain | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Uterine carcinosarcoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Acute myeloid leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Small cell lung carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Breast carcinoma | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Gastric cancer | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND TP53-related disorder | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Adrenal cortex carcinoma | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients... | 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
- rs121912666 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,872-7,674,872
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119860
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.5029200734189887E-5
- Variant (CIViC) (CIViC Variant)
- Y220C
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/922
Genome browser