chr17:7675070:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,388-7,578,388 View the variant detail on this assembly version.
hg38 chr17:7,675,070-7,675,070

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.542G>A NP_000537.3:p.Arg181His
NM_001126112.2:c.542G>A NP_001119584.1:p.Arg181His
NM_001276760.1:c.542G>A NP_001263689.1:p.Arg181His
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 Conflicting classifications of pathogenicity
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 tgv229158694 TogoVar
COSMIC COSM1386798 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-07-28 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2023-09-08 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Likely pathogenic 2019-05-28 criteria provided, single submitter Squamous cell carcinoma of the head and neck unknown Detail
Likely pathogenic 2021-03-04 no assertion criteria provided Carcinoma of pancreas germline Detail
Pathogenic 2021-03-19 no assertion criteria provided Familial cancer of breast somatic Detail
Likely pathogenic 2023-09-10 criteria provided, single submitter 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
0.120 Glioma susceptibility 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Carcinoma of pancreas ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.542G>A (p.Arg181His) AND Adrenocortical carcinoma, hereditary 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
rs397514495 dbSNP
Genome
hg38
Position
chr17:7,675,070-7,675,070
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121316
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6485871608031917E-5
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