chr17:7577090:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,090-7,577,090
hg38 chr17:7,673,772-7,673,772 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.848G>A NP_000537.3:p.Arg283His
NM_001126112.2:c.848G>A NP_001119584.1:p.Arg283His
NM_001276760.1:c.848G>A NP_001263689.1:p.Arg283His
Summary

MGeND

Clinical significance not provided
Variant entry 4
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 Uncertain significance
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 COSM4271753 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-12-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2016-06-16 criteria provided, single submitter Astrocytoma germline Detail
Uncertain significance 2023-12-07 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2024-02-01 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Uncertain significance 2021-07-21 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Uncertain significance 2020-05-19 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-07-18 criteria provided, single submitter TP53-related disorder germline Detail
Uncertain significance 2023-10-17 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.007 glioblastoma Functional analysis of the p53 alleles present in the patient's tumor indicated ... BeFree 12019170 Detail
0.260 Astrocytoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND Astrocytoma ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND not specified ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND TP53-related disorder ClinVar Detail
NM_000546.6(TP53):c.848G>A (p.Arg283His) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NA DisGeNET Detail
Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p... 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
rs371409680 dbSNP
Genome
hg19
Position
chr17:7,577,090-7,577,090
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8628
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)
120798
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.62262620242057E-5
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