chr17:7673751:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,069-7,577,069 View the variant detail on this assembly version.
hg38 chr17:7,673,751-7,673,751

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.869G>A NP_000537.3:p.Arg290His
NM_001126112.2:c.869G>A NP_001119584.1:p.Arg290His
NM_001276760.1:c.869G>A NP_001263689.1:p.Arg290His
Summary

MGeND

Clinical significance other
Variant entry 1
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 tgv397722442 TogoVar
COSMIC COSM4340369 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2021-04-23 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2019-09-16 reviewed by expert panel Li-Fraumeni syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline Detail
Conflicting interpretations of pathogenicity 2020-07-01 criteria provided, conflicting interpretations Li-Fraumeni syndrome 1 germline Detail
Conflicting interpretations of pathogenicity 2023-08-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance no assertion criteria provided Familial ovarian cancer unknown Detail
Uncertain significance 2019-07-18 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Likely benign 2021-11-12 criteria provided, single submitter TP53-related disorder 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
0.016 Malignant glioma cMYC expression associated with younger age as well as p53 immunopositivity (OR ... BeFree 23934175 Detail
0.053 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.005 Malignant glioma cMYC expression associated with younger age as well as p53 immunopositivity (OR ... BeFree 23934175 Detail
<0.001 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.121 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.132 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.256 glioblastoma Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplif... BeFree 26190195 Detail
0.441 Li-Fraumeni syndrome 1 Database of mutations in the p53 and APC tumor suppressor genes designed to faci... UNIPROT 8829653 Detail
0.441 Li-Fraumeni syndrome 1 p53 mutations in human cancers. UNIPROT 1905840 Detail
0.061 retinoblastoma Using immunohistochemistry, we investigated expression of R132H IDH1, and p53 an... BeFree 22674453 Detail
0.369 Li-Fraumeni syndrome One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a ... BeFree 20455025 Detail
0.014 Glioblastoma multiforme One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a ... BeFree 20455025 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND not specified ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND Familial ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND Breast and/or ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.869G>A (p.Arg290His) AND TP53-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) a... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) a... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), stron... DisGeNET Detail
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epi... DisGeNET Detail
p53 mutations in human cancers. DisGeNET Detail
Using immunohistochemistry, we investigated expression of R132H IDH1, and p53 and retinoblastoma pat... DisGeNET Detail
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history compr... DisGeNET Detail
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history compr... 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
rs55819519 dbSNP
Genome
hg38
Position
chr17:7,673,751-7,673,751
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
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)
121334
Allele Counts in All Race (ExAC)
19
Heterozygous Counts in All Race (ExAC)
19
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.5659254619480113E-4
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