chr17:7673704:G>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,022-7,577,022 View the variant detail on this assembly version.
hg38 chr17:7,673,704-7,673,704

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.916C>T NP_000537.3:p.Arg306Ter
NM_001126112.2:c.916C>T NP_001119584.1:p.Arg306Ter
NM_001276760.1:c.916C>T NP_001263689.1:p.Arg306Ter
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 6
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 tgv56956814 TogoVar
COSMIC COSM3388168 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/08/16 bone and articular cartilage, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/16 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/16 connective and soft tissue, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/08/16 li-fraumeni syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2018/02/08 colon cancer (dissemination) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2021-11-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Head and neck neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic 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 2022-06-18 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline Detail
Pathogenic 2021-11-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic no assertion criteria provided lung adenocarcinoma somatic 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.916C>T (p.Arg306Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND not provided ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Head and neck neoplasm ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Gastric cancer ClinVar Detail
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) AND Lung adenocarcinoma 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
rs121913344 dbSNP
Genome
hg38
Position
chr17:7,673,704-7,673,704
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser