chr17:7578437:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,437-7,578,437
hg38 chr17:7,675,119-7,675,119 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.493C>T NP_000537.3:p.Gln165Ter
NM_001126112.2:c.493C>T NP_001119584.1:p.Gln165Ter
NM_001276760.1:c.493C>T NP_001263689.1:p.Gln165Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 17
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM3388213 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic Carcinoma of pancreas (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 stomach cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
Pathogenic 2020/04/20 lower third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 small intestine, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 intrahepatic bile duct carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-05-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-02-03 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
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
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2022-05-09 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline 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.493C>T (p.Gln165Ter) AND not provided ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) 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
rs730882001 dbSNP
Genome
hg19
Position
chr17:7,578,437-7,578,437
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser