chr17:7578211:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,211-7,578,211
hg38 chr17:7,674,893-7,674,893 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126115.1:c.161G>A NP_001119587.1:p.Arg54Gln
NM_001276697.1:c.161G>A NP_001263626.1:p.Arg54Gln
NM_000546.5:c.638G>A NP_000537.3:p.Arg213Gln
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 20
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 COSM3403265 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 descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 extrahepatic bile duct 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
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
not provided Biliary cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic 2020/04/20 stomach cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
Pathogenic 2020/04/20 colon, unspecified 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 ill-defined sites within the digestive system 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 descending colon 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 ampulla of vater not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2013-09-19 no assertion provided not specified germline Detail
Pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2023-04-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-04-19 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Pathogenic 2021-11-16 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma 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 Papillary renal cell carcinoma type 1 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 Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma 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 prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Nasopharyngeal neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided 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 pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma 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 Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided adenoid cystic carcinoma somatic Detail
drug response 2017-11-27 no assertion criteria provided somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic 2019-08-09 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2023-08-22 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND not specified ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND not provided ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Nasopharyngeal neoplasm ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adrenal cortex carcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adenoid cystic carcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Poly (ADP-Ribose) polymerase inhibitor response ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Breast and/or ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NA DisGeNET 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
rs587778720 dbSNP
Genome
hg19
Position
chr17:7,578,211-7,578,211
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121096
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.257911078813503E-6
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