chr17:7675119:G>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,437-7,578,437 View the variant detail on this assembly version.
hg38 chr17:7,675,119-7,675,119

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.493C>T NP_000537.3:p.Gln165Ter
NM_001126112.2:c.493C>T NP_001119584.1:p.Gln165Ter
NM_001276760.1:c.493C>T NP_001263689.1:p.Gln165Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM3388213 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/08/19 connective and soft tissue, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/19 li-fraumeni syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/19 bone and articular cartilage, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/19 tongue, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-05-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-02-03 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2022-05-09 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown 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.493C>T (p.Gln165Ter) AND not provided ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) 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
rs730882001 dbSNP
Genome
hg38
Position
chr17:7,675,119-7,675,119
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser