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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-08-15 | criteria provided, conflicting interpretations | not specified |
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Detail |
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2015-08-13 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-06-08 | criteria provided, multiple submitters, no conflicts | Li-Fraumeni syndrome 1 |
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Detail |
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2017-10-31 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-08-28 | reviewed by expert panel | Li-Fraumeni syndrome |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2022-04-19 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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2021-07-07 | criteria provided, single submitter | Breast and/or ovarian cancer |
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Detail |
CIViC
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
Descrption | Source | Links |
---|---|---|
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
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