chr17:7577091:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,091-7,577,091
hg38 chr17:7,673,773-7,673,773 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.451C>T NP_001119588.1:p.Arg151Cys
NM_001276698.1:c.451C>T NP_001263627.1:p.Arg151Cys
NM_001126113.2:c.847C>T NP_001119585.1:p.Arg283Cys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 4
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 Likely 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 COSM10911 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided jejunum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095) 		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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-05 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-02-06 criteria provided, conflicting interpretations not specified germline Detail
Likely pathogenic 2014-06-01 no assertion criteria provided Neoplasm of stomach germline Detail
Likely benign 2022-03-18 reviewed by expert panel Li-Fraumeni syndrome germline Detail
Uncertain significance 2019-01-01 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown Detail
Likely benign 2023-06-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance no assertion criteria provided unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
Likely benign 2022-05-17 criteria provided, single submitter Familial cancer of breast,Bone marrow failure syndrome 5,colorectal cancer,choroid plexus papilloma,Carcinoma of pancreas,Glioma susceptibility 1,Li-Fraumeni syndrome 1,bone osteosarcoma,Nasopharyngeal carcinoma,Basal cell carcinoma, susceptibility to, 7,hepatocellular carcinoma,Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
0.364 Stomach Neoplasms NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND not specified ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Neoplasm of stomach ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Malignant tumor of breast ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND multiple conditions 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
rs149633775 dbSNP
Genome
hg19
Position
chr17:7,577,091-7,577,091
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8622
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)
120734
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.159573939403979E-4
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