chr17:7578271:T>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,271-7,578,271
hg38 chr17:7,674,953-7,674,953 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.578A>T NP_001119585.1:p.His193Leu
NM_001276695.1:c.578A>T NP_001263624.1:p.His193Leu
NM_001126116.1:c.182A>T NP_001119588.1:p.His61Leu
Summary

MGeND

Clinical significance not provided other
Variant entry 22
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 COSM2744772 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided middle third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided lower third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of pancreas 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
other Adenocarcinoma of stomach (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
other Carcinoma of pancreas (disorder) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided middle third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided oesophagus, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction 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 body of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system 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 lower 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
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-09-25 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus 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 Small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma 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 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 Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm 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 uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma 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 ovarian serous cystadenocarcinoma 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 brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Uncertain significance 2021-04-02 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2024-02-15 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Small cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Brainstem glioma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.578A>T (p.His193Leu) AND Li-Fraumeni syndrome 1 ClinVar 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
rs786201838 dbSNP
Genome
hg19
Position
chr17:7,578,271-7,578,271
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser