chr17:7574002:C>G Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,574,002-7,574,002
hg38 chr17:7,670,684-7,670,684 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.*44G>C
NM_001276695.1:c.*44G>C
NM_000546.5:c.1025G>C NP_000537.3:p.Arg342Pro
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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 COSM45276 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2020/04/20 stomach cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-30 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2023-05-12 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2019-11-04 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2024-02-21 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) AND not provided ClinVar Detail
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) 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
rs375338359 dbSNP
Genome
hg19
Position
chr17:7,574,002-7,574,002
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser