chr17:7578463:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,463-7,578,463
hg38 chr17:7,675,145-7,675,145 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.467G>A NP_001119585.1:p.Arg156His
NM_001276695.1:c.467G>A NP_001263624.1:p.Arg156His
NM_000546.5:c.467G>A NP_000537.3:p.Arg156His
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 9
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
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 tgv56957460 TogoVar
COSMIC COSM3970369 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-04-16 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2023-06-14 criteria provided, single submitter not provided germline Detail
Conflicting interpretations of pathogenicity 2019-05-28 criteria provided, conflicting interpretations Squamous cell carcinoma of the head and neck somatic unknown Detail
Uncertain significance 2019-05-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2021-02-22 reviewed by expert panel Li-Fraumeni syndrome 1 germline Detail
Uncertain significance 2020-06-16 criteria provided, single submitter Familial cancer of breast germline Detail
Uncertain significance 2023-10-18 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
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not specified ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.467G>A (p.Arg156His) AND Adrenocortical carcinoma, hereditary 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
rs371524413 dbSNP
Genome
hg19
Position
chr17:7,578,463-7,578,463
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
83.71
Standard deviation of sample read depth (HGVD)
38.72
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
TP53
East Asian Chromosome Counts (ExAC)
8654
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)
121188
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4754926230319832E-5
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