chr17:7579312:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,579,312-7,579,312
hg38 chr17:7,675,994-7,675,994 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.375G>A NP_000537.3:p.Thr125=
NM_001126112.2:c.375G>A NP_001119584.1:p.Thr125=
NM_001276760.1:c.375G>A NP_001263689.1:p.Thr125=
Summary

MGeND

Clinical significance Pathogenic
Variant entry 18
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 tgv56957605 TogoVar
COSMIC COSM3403299 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 lower third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-28 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2023-02-21 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-07-11 criteria provided, multiple submitters, no conflicts not provided germline not applicable unknown Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic 2021-03-19 no assertion criteria provided Malignant tumor of prostate germline Detail
Pathogenic 2020-02-28 criteria provided, single submitter Glioma susceptibility 1 germline Detail
Pathogenic Likely pathogenic 2024-02-13 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Pathogenic 2022-12-19 criteria provided, single submitter TP53-related disorder germline Detail
Pathogenic 2023-10-29 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Pathogenic 2020-10-26 criteria provided, single submitter nephrogenic diabetes insipidus germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND not provided ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Rhabdomyosarcoma ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Breast and/or ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Malignant tumor of prostate ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Glioma susceptibility 1 ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND TP53-related disorder ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Nephrogenic diabetes insipidus 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
rs55863639 dbSNP
Genome
hg19
Position
chr17:7,579,312-7,579,312
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser