chr17:7574017:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,574,017-7,574,017
hg38 chr17:7,670,699-7,670,699 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.*117G>A
NM_001276698.1:c.*117G>A
NM_001126113.2:c.*29G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 8
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 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 COSM43882 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 2018/12/30 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/12/30 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/12/30 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-01-01 no assertion criteria provided Adrenocortical carcinoma, pediatric germline Detail
Pathogenic Likely pathogenic 2023-05-16 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-19 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2022-10-07 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline maternal unknown Detail
Pathogenic 2019-05-28 criteria provided, single submitter Squamous cell carcinoma of the head and neck unknown Detail
Pathogenic 2023-09-10 criteria provided, single submitter Adrenocortical carcinoma, hereditary germline unknown Detail
Pathogenic 2021-11-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Bone marrow failure syndrome 5,Familial cancer of breast,Basal cell carcinoma, susceptibility to, 7,colorectal cancer,choroid plexus papilloma,hepatocellular carcinoma,Nasopharyngeal carcinoma,bone osteosarcoma,Li-Fraumeni syndrome 1,Carcinoma of pancreas,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline 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
0.124 choroid plexus carcinoma Association of the highly prevalent TP53 R337H mutation with pediatric choroid p... BeFree 21192060 Detail
0.240 Malignant neoplasm of breast Association of the germline TP53 R337H mutation with breast cancer in southern B... BeFree 19046423 Detail
0.012 Tumors of Adrenal Cortex We also evaluated TDG expression in patients with adrenocortical tumors (ADR) wi... BeFree 25945745 Detail
0.012 Tumors of Adrenal Cortex An inherited germline mutation in the p53 gene (TP53 R337H) is detected in virtu... BeFree 16200634 Detail
0.124 choroid plexus carcinoma TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC ... BeFree 24122735 Detail
0.007 Agenesis of corpus callosum Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 all... BeFree 11481490 Detail
0.012 Tumors of Adrenal Cortex The high frequency of TP53 R337H carriers in southern Brazil is responsible for ... BeFree 22056871 Detail
0.369 Li-Fraumeni syndrome In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-... BeFree 25945745 Detail
0.010 Blast Phase Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expressio... BeFree 17361096 Detail
0.124 choroid plexus carcinoma Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H m... BeFree 21445348 Detail
0.369 Li-Fraumeni syndrome Mutation of Arg337 to histidine in the tetramerization domain of p53 is most fre... BeFree 20605095 Detail
0.080 breast carcinoma Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. BeFree 24936644 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Moreover, the detection of the TP53 R337H variant in our series and the fact tha... BeFree 24884479 Detail
0.323 Neoplasm Metastasis DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H... BeFree 22004116 Detail
0.080 breast carcinoma Association of the germline TP53 R337H mutation with breast cancer in southern B... BeFree 19046423 Detail
0.007 Agenesis of corpus callosum TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC ... BeFree 24122735 Detail
0.124 Hereditary Breast and Ovarian Cancer Syndrome Moreover, the detection of the TP53 R337H variant in our series and the fact tha... BeFree 24884479 Detail
0.084 Malignant neoplasm of stomach TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evi... BeFree 22004116 Detail
0.261 adrenocortical carcinoma Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identifie... BeFree 15878142 Detail
0.261 adrenocortical carcinoma The TP53 R337H mutation dramatically increases predisposition to childhood ACT b... BeFree 16033918 Detail
0.012 Tumors of Adrenal Cortex Inheritance of R337H p53 gene mutation in children with sporadic adrenocortical ... BeFree 15952083 Detail
0.008 Hereditary Malignant Neoplasm An identical germline mutation at codon 337 in TP53 (R337H) has been shown to be... BeFree 18248785 Detail
0.080 breast carcinoma Here we have assessed the prevalence of R337H in 750 healthy women participating... BeFree 18248785 Detail
0.240 Malignant neoplasm of breast Here we have assessed the prevalence of R337H in 750 healthy women participating... BeFree 18248785 Detail
0.369 Li-Fraumeni syndrome The current findings demonstrated compellingly that the TP53 R337H mutation is a... BeFree 21192060 Detail
0.261 adrenocortical carcinoma Children in southern Brazil that exhibit an elevated incidence of adrenocortical... BeFree 11753428 Detail
0.008 Myeloid Leukemia, Chronic Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expressio... BeFree 17361096 Detail
0.120 Adrenocortical carcinoma, pediatric NA CLINVAR Detail
0.369 Li-Fraumeni syndrome These findings indicate that R337H may be a low penetrance mutant which predispo... BeFree 18248785 Detail
0.261 adrenocortical carcinoma The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H... BeFree 12634062 Detail
0.003 Blast Phase Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expressio... BeFree 17361096 Detail
0.240 Malignant neoplasm of breast Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. BeFree 24936644 Detail
0.353 Mammary Neoplasms A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in ... BeFree 23794094 Detail
0.031 Osteosarcoma of bone Association of the highly prevalent TP53 R337H mutation with pediatric choroid p... BeFree 21192060 Detail
0.080 Carcinogenesis The mechanisms of adrenal tumorigenesis remain poorly established; the R337H ger... BeFree 15952083 Detail
0.002 female breast carcinoma Moreover, the detection of the TP53 R337H variant in our series and the fact tha... BeFree 24884479 Detail
0.075 stomach carcinoma TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evi... BeFree 22004116 Detail
0.240 Malignant neoplasm of breast The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diag... BeFree 25052705 Detail
0.002 Malignant neoplasm of female breast Moreover, the detection of the TP53 R337H variant in our series and the fact tha... BeFree 24884479 Detail
0.382 osteosarcoma Association of the highly prevalent TP53 R337H mutation with pediatric choroid p... BeFree 21192060 Detail
0.369 Li-Fraumeni syndrome We compared the CNV profiles of controls, and LFS individuals carrying either p.... BeFree 23259501 Detail
0.080 breast carcinoma The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diag... BeFree 25052705 Detail
0.007 Agenesis of corpus callosum These results demonstrate a pH-sensitive molecular defect of p53 (R337H), sugges... BeFree 11753428 Detail
0.024 Myeloid Leukemia, Chronic Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expressio... BeFree 17361096 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Adrenocortical carcinoma, pediatric ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Gastric cancer ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and ... DisGeNET Detail
Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. DisGeNET Detail
We also evaluated TDG expression in patients with adrenocortical tumors (ADR) with and without the p... DisGeNET Detail
An inherited germline mutation in the p53 gene (TP53 R337H) is detected in virtually all children wi... DisGeNET Detail
TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus c... DisGeNET Detail
Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes... DisGeNET Detail
The high frequency of TP53 R337H carriers in southern Brazil is responsible for the highest known in... DisGeNET Detail
In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndro... DisGeNET Detail
Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with... DisGeNET Detail
Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern ... DisGeNET Detail
Mutation of Arg337 to histidine in the tetramerization domain of p53 is most frequently observed in ... DisGeNET Detail
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. DisGeNET Detail
Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a... DisGeNET Detail
DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H) in samples with ne... DisGeNET Detail
Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. DisGeNET Detail
TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus c... DisGeNET Detail
Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a... DisGeNET Detail
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism ... DisGeNET Detail
Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of... DisGeNET Detail
The TP53 R337H mutation dramatically increases predisposition to childhood ACT but not to other canc... DisGeNET Detail
Inheritance of R337H p53 gene mutation in children with sporadic adrenocortical tumor. DisGeNET Detail
An identical germline mutation at codon 337 in TP53 (R337H) has been shown to be causally related to... DisGeNET Detail
Here we have assessed the prevalence of R337H in 750 healthy women participating in a community-base... DisGeNET Detail
Here we have assessed the prevalence of R337H in 750 healthy women participating in a community-base... DisGeNET Detail
The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only w... DisGeNET Detail
Children in southern Brazil that exhibit an elevated incidence of adrenocortical carcinoma (ACC) har... DisGeNET Detail
Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with... DisGeNET Detail
NA DisGeNET Detail
These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple canc... DisGeNET Detail
The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), ass... DisGeNET Detail
Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with... DisGeNET Detail
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. DisGeNET Detail
A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. DisGeNET Detail
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and ... DisGeNET Detail
The mechanisms of adrenal tumorigenesis remain poorly established; the R337H germline mutation in th... DisGeNET Detail
Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a... DisGeNET Detail
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism ... DisGeNET Detail
The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast ca... DisGeNET Detail
Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a... DisGeNET Detail
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and ... DisGeNET Detail
We compared the CNV profiles of controls, and LFS individuals carrying either p.R337H or DNA binding... DisGeNET Detail
The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast ca... DisGeNET Detail
These results demonstrate a pH-sensitive molecular defect of p53 (R337H), suggesting that pH-depende... DisGeNET Detail
Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with... 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
rs121912664 dbSNP
Genome
hg19
Position
chr17:7,574,017-7,574,017
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8528
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)
117390
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)
8.51861316977596E-6
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