chr17:7578200:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,200-7,578,200
hg38 chr17:7,674,882-7,674,882 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276696.1:c.532G>A NP_001263625.1:p.Val178Met
NM_000546.5:c.649G>A NP_000537.3:p.Val217Met
NM_001126112.2:c.649G>A NP_001119584.1:p.Val217Met
Summary

MGeND

Clinical significance
Variant entry
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 COSM5990584 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-11-24 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely benign 2019-11-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.020 Philadelphia chromosome-positive acute lymphoblastic leukemia One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... BeFree 25894969 Detail
<0.001 Philadelphia chromosome-positive acute lymphoblastic leukemia One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... BeFree 25894969 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.649G>A (p.Val217Met) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.649G>A (p.Val217Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... DisGeNET Detail
One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... 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
rs35163653 dbSNP
Genome
hg19
Position
chr17:7,578,200-7,578,200
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1563367252543941E-4
Chromosome Counts in All Race (ExAC)
120636
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)
8.289399515899069E-6
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