chr17:7674947:A>G Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,265-7,578,265 View the variant detail on this assembly version.
hg38 chr17:7,674,947-7,674,947

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.584T>C NP_000537.3:p.Ile195Thr
NM_001126112.2:c.584T>C NP_001119584.1:p.Ile195Thr
NM_001276760.1:c.584T>C NP_001263689.1:p.Ile195Thr
Summary

MGeND

Clinical significance Pathogenic
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 COSM3421936 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic li-fraumeni syndrome somatic MGS000001
(TMGS000178) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-27 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Uncertain significance 2022-06-06 criteria provided, single submitter lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia 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 B-cell chronic lymphocytic leukemia 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 Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular 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 pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma 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 gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Pathogenic 2022-06-30 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic 2024-02-15 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Pathogenic 2022-11-09 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND not provided ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Breast and/or ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) AND Adrenocortical carcinoma, hereditary 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
rs760043106 dbSNP
Genome
hg38
Position
chr17:7,674,947-7,674,947
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser