chr17:7577529:A>C Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,529-7,577,529
hg38 chr17:7,674,211-7,674,211 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.752T>G NP_001119585.1:p.Ile251Ser
NM_001276695.1:c.752T>G NP_001263624.1:p.Ile251Ser
NM_001276696.1:c.635T>G NP_001263625.1:p.Ile212Ser
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM6191229 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 MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-09-23 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-12-31 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2024-02-16 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2023-12-14 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
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) AND not provided ClinVar Detail
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) AND Hereditary cancer-predisposing 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
rs730882027 dbSNP
Genome
hg19
Position
chr17:7,577,529-7,577,529
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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)
121348
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)
8.240762105679534E-6
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