chr17:7577559:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,559-7,577,559
hg38 chr17:7,674,241-7,674,241 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.722C>T NP_001119585.1:p.Ser241Phe
NM_001276695.1:c.722C>T NP_001263624.1:p.Ser241Phe
NM_001126116.1:c.326C>T NP_001119588.1:p.Ser109Phe
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic not provided
Variant entry 31
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM3522695 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
Likely pathogenic Carcinoma of breast (disorder)_Hormone receptor positive malignant neoplasm of breast unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Likely pathogenic Primary malignant neoplasm of ovary (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
Pathogenic Colorectal somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic li-fraumeni syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
not provided pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided middle third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-01-01 no assertion criteria provided hepatoblastoma germline Detail
Pathogenic 1993-01-01 no assertion criteria provided bone osteosarcoma germline Detail
Pathogenic Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus 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 carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma 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 Papillary renal cell carcinoma, sporadic 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 glioblastoma 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 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 pancreatic adenocarcinoma 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 gallbladder carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
Pathogenic 2023-12-17 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Likely pathogenic 2024-02-16 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Likely pathogenic 2022-04-22 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Bone marrow failure syndrome 5,hepatocellular carcinoma,Glioma susceptibility 1,colorectal cancer,choroid plexus papilloma,Li-Fraumeni syndrome 1,Adrenocortical carcinoma, hereditary,bone osteosarcoma,Familial cancer of breast,Nasopharyngeal carcinoma,Carcinoma of pancreas unknown Detail
Pathogenic 2022-09-09 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 The consensus coding sequences of human breast and colorectal cancers. UNIPROT 16959974 Detail
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.382 osteosarcoma NA CLINVAR Detail
0.130 hepatoblastoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Hepatoblastoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Bone osteosarcoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Non-Hodgkin lymphoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Brainstem glioma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Gallbladder carcinoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) AND not provided ClinVar Detail
The consensus coding sequences of human breast and colorectal cancers. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
rs28934573 dbSNP
Genome
hg19
Position
chr17:7,577,559-7,577,559
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser