chr17:7577099:C>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,099-7,577,099
hg38 chr17:7,673,781-7,673,781 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.443G>T NP_001119588.1:p.Arg148Ile
NM_001276698.1:c.443G>T NP_001263627.1:p.Arg148Ile
NM_001126113.2:c.839G>T NP_001119585.1:p.Arg280Ile
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 11
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM3723939 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
Uncertain significance Carcinoma of endocrine pancreas (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided upper third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided Malignant tumor of prostate 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 ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix 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 gastric adenocarcinoma 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 Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Nasopharyngeal neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided 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
Uncertain significance 2017-09-20 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2024-02-20 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
0.261 Nasopharyngeal carcinoma NA CLINVAR Detail
0.329 Glioma Our observations indicate that the R280T mutation of p53 regulates the prolifera... BeFree 22999923 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Malignant tumor of prostate ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Small cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Neoplasm of uterine cervix ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Nasopharyngeal neoplasm ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) AND Li-Fraumeni syndrome 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our observations indicate that the R280T mutation of p53 regulates the proliferation of human glioma... 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
rs121912660 dbSNP
Genome
hg19
Position
chr17:7,577,099-7,577,099
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser