chr17:7579312:C>A 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_001126113.2:c.375G>T NP_001119585.1:p.Thr125=
NM_001276695.1:c.375G>T NP_001263624.1:p.Thr125=
NM_001126118.1:c.258G>T NP_001119590.1:p.Thr86=
Summary

MGeND

Clinical significance not provided
Variant entry 34
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
COSMIC COSM3388231 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 MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-07-03 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
not provided no assertion provided not provided not applicable Detail
Pathogenic 2020-12-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2024-02-13 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown 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>T (p.Thr125=) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) AND not provided ClinVar Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) 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
rs55863639 dbSNP
Genome
hg19
Position
chr17:7,579,312-7,579,312
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser