chr17:7578458:G>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,458-7,578,458
hg38 chr17:7,675,140-7,675,140 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.76C>T NP_001119588.1:p.Arg26Cys
NM_001276698.1:c.76C>T NP_001263627.1:p.Arg26Cys
NM_000546.5:c.472C>T NP_000537.3:p.Arg158Cys
Summary

MGeND

Clinical significance not provided
Variant entry 7
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 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 COSM3932746 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided extrahepatic bile duct 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 Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-06-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-03-21 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2024-01-23 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Uncertain significance 2022-05-04 criteria provided, single submitter Li-Fraumeni syndrome 1 germline Detail
Uncertain significance 2023-12-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND not provided ClinVar Detail
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND Lip and oral cavity carcinoma ClinVar Detail
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) AND Hereditary breast ovarian cancer syndrome ClinVar 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
rs587780068 dbSNP
Genome
hg19
Position
chr17:7,578,458-7,578,458
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121216
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6499472016895458E-5
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