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_001126117.1:c.182A>G NP_001119589.1:p.Tyr61Cys
NM_001276699.1:c.182A>G NP_001263628.1:p.Tyr61Cys
NM_000546.5:c.659A>G NP_000537.3:p.Tyr220Cys
Summary

MGeND

Clinical significance Pathogenic other
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3355993 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other 2017/04/03 carcinoma, non-small-cell lung somatic MGS000014
(TMGS000028) 		Kohei Miyazono Tokyo University
Pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-12-27 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-07-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline unknown Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma, sporadic somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Small cell lung carcinoma somatic Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2020-04-02 criteria provided, single submitter Li-Fraumeni syndrome 1 germline Detail
Pathogenic 2021-03-19 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Pathogenic 2021-08-21 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 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 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-01-30 criteria provided, single submitter TP53-related disorder germline Detail
Pathogenic 2023-09-03 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Likely pathogenic no assertion criteria provided Adrenal cortex carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
stomach carcinoma Mitomycin,Cisplatin,Etoposide C Predictive Supports Sensitivity/Response Somatic 3 14514923 Detail
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
acute myeloid leukemia D Functional Does Not Support Neomorphic Unknown 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&gt;C (p.Y220S) was identified in stored DNA f... BeFree 15977174 Detail
Annotation

Annotations

DescrptionSourceLinks
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&gt;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