chr17:7579548:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,579,548-7,579,548
hg38 chr17:7,676,230-7,676,230 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.139C>T NP_000537.3:p.Pro47Ser
NM_001126112.2:c.139C>T NP_001119584.1:p.Pro47Ser
NM_001276760.1:c.139C>T NP_001263689.1:p.Pro47Ser
Summary

MGeND

Clinical significance
Variant entry
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 Benign
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 COSM5347102 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline Detail
Benign 2015-08-13 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2018-06-08 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline Detail
Benign 2017-10-31 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Benign 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline Detail
Benign no assertion criteria provided unknown Detail
Benign Likely benign 2022-04-19 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-10-19 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,Adrenocortical carcinoma, hereditary,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,bone osteosarcoma,hepatocellular carcinoma,Carcinoma of pancreas,Bone marrow failure syndrome 5 unknown Detail
Benign 2021-07-07 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Cisplatin E Predictive Supports Resistance Common Germline 2 27034505 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.329 Glioma Prognostic value of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms a... BeFree 18393224 Detail
0.160 colorectal cancer TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in... BeFree 20449797 Detail
0.064 Carcinoma of bladder The role of TP53 PRO47SER and ARG72PRO single nucleotide polymorphisms in the su... BeFree 19523860 Detail
0.085 colorectal carcinoma TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in... BeFree 20449797 Detail
0.009 Well Differentiated Oligodendroglioma Aiming to study the role of TP53 Pro47Ser and Arg72Pro on glioma susceptibility ... BeFree 18393224 Detail
0.021 oligodendroglioma Aiming to study the role of TP53 Pro47Ser and Arg72Pro on glioma susceptibility ... BeFree 18393224 Detail
0.121 Malignant neoplasm of urinary bladder The role of TP53 PRO47SER and ARG72PRO single nucleotide polymorphisms in the su... BeFree 19523860 Detail
Annotation

Annotations

DescrptionSourceLinks
The P47S (rs1800371) variant of TP53 is observed in 1.5% in African Americans and between 6% and 8% ... CIViC Evidence Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND not specified ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND not provided ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Malignant tumor of breast ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) AND Breast and/or ovarian cancer ClinVar Detail
Prognostic value of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms and the susceptibilit... DisGeNET Detail
TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri ... DisGeNET Detail
The role of TP53 PRO47SER and ARG72PRO single nucleotide polymorphisms in the susceptibility to blad... DisGeNET Detail
TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri ... DisGeNET Detail
Aiming to study the role of TP53 Pro47Ser and Arg72Pro on glioma susceptibility and oncologic progno... DisGeNET Detail
Aiming to study the role of TP53 Pro47Ser and Arg72Pro on glioma susceptibility and oncologic progno... DisGeNET Detail
The role of TP53 PRO47SER and ARG72PRO single nucleotide polymorphisms in the susceptibility to blad... 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
rs1800371 dbSNP
Genome
hg19
Position
chr17:7,579,548-7,579,548
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8606
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)
121078
Allele Counts in All Race (ExAC)
208
Heterozygous Counts in All Race (ExAC)
204
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0017179008572986009
Variant (CIViC) (CIViC Variant)
P47S
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/504
Genome browser