chr17:7675161:G>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,479-7,578,479 View the variant detail on this assembly version.
hg38 chr17:7,675,161-7,675,161

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.451C>A NP_000537.3:p.Pro151Thr
NM_001126112.2:c.451C>A NP_001119584.1:p.Pro151Thr
NM_001276760.1:c.451C>A NP_001263689.1:p.Pro151Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 COSM4070056 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-07-01 no assertion criteria provided breast adenocarcinoma somatic Detail
Pathogenic Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided adenoid cystic carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Pathogenic Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-08 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Likely pathogenic 2022-06-18 criteria provided, single submitter Li-Fraumeni syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.353 Mammary Neoplasms We have predicted three deleterious coding non-synonymous single nucleotide poly... BeFree 25105660 Detail
0.441 Li-Fraumeni syndrome 1 p53 alterations in human squamous cell carcinomas and carcinoma cell lines. UNIPROT 7682763 Detail
0.122 breast adenocarcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Breast adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Adenoid cystic carcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND not provided ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Rhabdomyosarcoma ClinVar Detail
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Li-Fraumeni syndrome 1 ClinVar Detail
NA DisGeNET Detail
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654... DisGeNET Detail
p53 alterations in human squamous cell carcinomas and carcinoma cell lines. 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
rs28934874 dbSNP
Genome
hg38
Position
chr17:7,675,161-7,675,161
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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