chr17:7674193:A>C Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,511-7,577,511 View the variant detail on this assembly version.
hg38 chr17:7,674,193-7,674,193

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.770T>G NP_000537.3:p.Leu257Arg
NM_001126112.2:c.770T>G NP_001119584.1:p.Leu257Arg
NM_001276760.1:c.770T>G NP_001263689.1:p.Leu257Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM4591814 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2019-12-11 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2022-07-05 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.126 Li-fraumeni-like syndrome NA CLINVAR Detail
0.441 Li-Fraumeni syndrome 1 Database of mutations in the p53 and APC tumor suppressor genes designed to faci... UNIPROT 8829653 Detail
0.441 Li-Fraumeni syndrome 1 p53 mutations in human cancers. UNIPROT 1905840 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) AND Li-Fraumeni syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epi... DisGeNET Detail
p53 mutations in human cancers. 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
rs28934577 dbSNP
Genome
hg38
Position
chr17:7,674,193-7,674,193
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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