chr17:7675238:T>C Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,556-7,578,556 View the variant detail on this assembly version.
hg38 chr17:7,675,238-7,675,238

HGVS

Type Transcript Protein
RefSeq NM_001126118.1:c.259-2A>G
NM_000546.5:c.376-2A>G
NM_001126112.2:c.376-2A>G
Summary

MGeND

Clinical significance
Variant entry
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 COSM3388230 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-05-22 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-04-18 criteria provided, single submitter not provided germline not applicable Detail
Pathogenic 2023-04-26 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2020-10-30 no assertion criteria provided gallbladder cancer somatic Detail
Likely pathogenic 2024-02-13 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.376-2A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.376-2A>G AND not provided ClinVar Detail
NM_000546.6(TP53):c.376-2A>G AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.376-2A>G AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.376-2A>G AND Gallbladder cancer ClinVar Detail
NM_000546.6(TP53):c.376-2A>G 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
rs786202799 dbSNP
Genome
hg38
Position
chr17:7,675,238-7,675,238
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser