chr17:7577509:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,509-7,577,509
hg38 chr17:7,674,191-7,674,191 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.772G>A NP_001119585.1:p.Glu258Lys
NM_001276695.1:c.772G>A NP_001263624.1:p.Glu258Lys
NM_001126116.1:c.376G>A NP_001119588.1:p.Glu126Lys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 18
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 COSM10988 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 transverse colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided 2018/05/15 stomach neoplasms somatic MGS000017
(TMGS000034)
Kohei Miyazono Tokyo University
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Pathogenic 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 transverse colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 extrahepatic bile duct not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-06-18 criteria provided, single submitter Li-Fraumeni syndrome 1 germline Detail
Pathogenic 2021-11-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance no assertion criteria provided not specified unknown Detail
Pathogenic Likely pathogenic 2022-06-18 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 2023-10-13 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND not specified ClinVar Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) AND Li-Fraumeni syndrome ClinVar Detail
NA DisGeNET 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
rs121912652 dbSNP
Genome
hg19
Position
chr17:7,577,509-7,577,509
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121234
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.248511143738554E-6
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