chr17:7578475:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,475-7,578,475
hg38 chr17:7,675,157-7,675,157 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.59C>T NP_001119588.1:p.Pro20Leu
NM_001276698.1:c.59C>T NP_001263627.1:p.Pro20Leu
NM_001126113.2:c.455C>T NP_001119585.1:p.Pro152Leu
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 29
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 COSM3717667 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 abdominal part of oesophagus not provided MGS000040
(TMGS000095) 		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 stomach, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction 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
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
Pathogenic 2020/04/20 abdominal part of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 upper third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum 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 fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000041
(TMGS000094) 		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
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline Detail
Pathogenic no assertion criteria provided not provided unknown Detail
Pathogenic Likely pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2018-11-21 criteria provided, single submitter Familial cancer of breast unknown 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 2023-10-19 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND not provided ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) AND Adrenocortical carcinoma, hereditary ClinVar 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
rs587782705 dbSNP
Genome
hg19
Position
chr17:7,578,475-7,578,475
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121174
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3010381765065115E-5
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