chr17:7577096:T>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,096-7,577,096
hg38 chr17:7,673,778-7,673,778 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.446A>T NP_001119588.1:p.Asp149Val
NM_001276698.1:c.446A>T NP_001263627.1:p.Asp149Val
NM_000546.5:c.842A>T NP_000537.3:p.Asp281Val
Summary

MGeND

Clinical significance not provided
Variant entry 4
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 COSM4813641 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-11 criteria provided, single submitter not provided germline Detail
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 B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma 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 glioblastoma 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 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 Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 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 Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided neuroblastoma 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 hepatocellular carcinoma somatic Detail
Pathogenic 2022-12-15 criteria provided, single submitter Li-Fraumeni syndrome 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
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND not provided ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Neuroblastoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.842A>T (p.Asp281Val) AND Li-Fraumeni syndrome 1 ClinVar 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
rs587781525 dbSNP
Genome
hg19
Position
chr17:7,577,096-7,577,096
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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