chr17:7577082:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,082-7,577,082
hg38 chr17:7,673,764-7,673,764 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.856G>A NP_001119585.1:p.Glu286Lys
NM_001276695.1:c.856G>A NP_001263624.1:p.Glu286Lys
NM_001126116.1:c.460G>A NP_001119588.1:p.Glu154Lys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 29
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 COSM3522693 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided fundus of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided descending 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
Pathogenic Carcinoma of pancreas (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
not provided Biliary cancer somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Glioma somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided colon, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct 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 fundus of stomach 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 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum 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 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-06-22 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma 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 Carcinoma of esophagus 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 Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided 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 Neoplasm of brain 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 Small cell lung carcinoma 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
Pathogenic 2023-12-11 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic no assertion criteria provided Vulvar adenocarcinoma of mammary gland type somatic Detail
Pathogenic Likely pathogenic 2024-02-21 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.856G>A (p.Glu286Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Small cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) AND Vulvar adenocarcinoma of mammary gland type ClinVar Detail
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) 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
rs786201059 dbSNP
Genome
hg19
Position
chr17:7,577,082-7,577,082
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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