chr17:7577511:A>T Detail (hg19) (TP53)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.770T>A NP_001119585.1:p.Leu257Gln
NM_001276695.1:c.770T>A NP_001263624.1:p.Leu257Gln
NM_000546.5:c.770T>A NP_000537.3:p.Leu257Gln
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 13
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 COSM4139864 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 fundus of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance Squamous cell carcinoma of esophagus (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
not provided fundus of stomach not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon 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 bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-01-01 no assertion criteria provided Li-fraumeni-like syndrome germline Detail
Uncertain significance 2023-06-15 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2020-09-25 criteria provided, single submitter Hereditary cancer-predisposing 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>A (p.Leu257Gln) AND Li-fraumeni-like syndrome ClinVar Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) AND Hereditary cancer-predisposing 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
hg19
Position
chr17:7,577,511-7,577,511
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser