chr17:7578389:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,389-7,578,389
hg38 chr17:7,675,071-7,675,071 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.541C>T NP_000537.3:p.Arg181Cys
NM_001126112.2:c.541C>T NP_001119584.1:p.Arg181Cys
NM_001276760.1:c.541C>T NP_001263689.1:p.Arg181Cys
Summary

MGeND

Clinical significance not provided
Variant entry 10
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 COSM3712584 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 upper third of oesophagus not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided oesophagus, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided liver cell carcinoma not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-02-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-10-03 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Uncertain significance 2021-07-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-05-03 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Pathogenic 2024-05-06 criteria provided, single submitter Familial cancer of breast germline 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
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) AND Familial cancer of breast ClinVar 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
rs587782596 dbSNP
Genome
hg19
Position
chr17:7,578,389-7,578,389
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser