chr17:7675143:C>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,461-7,578,461 View the variant detail on this assembly version.
hg38 chr17:7,675,143-7,675,143

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.469G>T NP_000537.3:p.Val157Phe
NM_001126112.2:c.469G>T NP_001119584.1:p.Val157Phe
NM_001276760.1:c.469G>T NP_001263689.1:p.Val157Phe
Summary

MGeND

Clinical significance other
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC COSM3388217 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other 2017/03/08 carcinoma, non-small-cell lung somatic MGS000014
(TMGS000028) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1991-04-04 no assertion criteria provided hepatocellular carcinoma somatic Detail
Pathogenic Likely pathogenic 2021-09-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Uncertain significance 2023-11-14 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Pathogenic 2022-06-06 criteria provided, single submitter squamous cell carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.382 osteosarcoma Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.031 Osteosarcoma of bone Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,... BeFree 16778209 Detail
0.511 liver carcinoma NA CLINVAR Detail
0.003 squamous cell carcinoma Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of... BeFree 17294448 Detail
Annotation

Annotations

DescrptionSourceLinks
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... CIViC Evidence Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.469G>T (p.Val157Phe) AND Squamous cell carcinoma ClinVar Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es... DisGeNET Detail
NA DisGeNET Detail
Previous analyses of p53 in 40 HLA-A*0201(HLA-A2)(+) squamous cell carcinomas of the head and neck (... 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
rs121912654 dbSNP
Genome
hg38
Position
chr17:7,675,143-7,675,143
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
V157F
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1092
Genome browser