chr17:7675088:C>A Detail (hg38) (TP53)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:7,578,406-7,578,406 View the variant detail on this assembly version.
hg38	chr17:7,675,088-7,675,088

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.524G>T	NP_000537.3:p.Arg175Leu
	NM_001126112.2:c.524G>T	NP_001119584.1:p.Arg175Leu
	NM_001276760.1:c.524G>T	NP_001263689.1:p.Arg175Leu
	NM_001276761.1:c.524G>T	NP_001263690.1:p.Arg175Leu
	NM_001126113.2:c.524G>T	NP_001119585.1:p.Arg175Leu
	NM_001276695.1:c.524G>T	NP_001263624.1:p.Arg175Leu
	NM_001276696.1:c.407G>T	NP_001263625.1:p.Arg136Leu
	NM_001126116.1:c.128G>T	NP_001119588.1:p.Arg43Leu
	NM_001276698.1:c.128G>T	NP_001263627.1:p.Arg43Leu
	NM_001126118.1:c.407G>T	NP_001119590.1:p.Arg136Leu
	NM_001126117.1:c.47G>T	NP_001119589.1:p.Arg16Leu
	NM_001276699.1:c.47G>T	NP_001263628.1:p.Arg16Leu
	NM_001126115.1:c.47G>T	NP_001119587.1:p.Arg16Leu
	NM_001276697.1:c.47G>T	NP_001263626.1:p.Arg16Leu
Ensemble	ENST00000619485.4:c.407G>T	ENST00000619485.4:p.Arg136Leu
	ENST00000620739.4:c.407G>T	ENST00000620739.4:p.Arg136Leu
	ENST00000269305.9:c.524G>T	ENST00000269305.9:p.Arg175Leu
	ENST00000359597.8:c.524G>T	ENST00000359597.8:p.Arg175Leu
	ENST00000413465.6:c.524G>T	ENST00000413465.6:p.Arg175Leu
	ENST00000420246.6:c.524G>T	ENST00000420246.6:p.Arg175Leu
	ENST00000445888.6:c.524G>T	ENST00000445888.6:p.Arg175Leu
	ENST00000455263.6:c.524G>T	ENST00000455263.6:p.Arg175Leu
	ENST00000622645.4:c.407G>T	ENST00000622645.4:p.Arg136Leu
	ENST00000714356.1:c.407G>T	ENST00000714356.1:p.Arg136Leu
	ENST00000714357.1:c.524G>T	ENST00000714357.1:p.Arg175Leu
	ENST00000714359.1:c.524G>T	ENST00000714359.1:p.Arg175Leu
	ENST00000504290.5:c.128G>T	ENST00000504290.5:p.Arg43Leu
	ENST00000504937.5:c.128G>T	ENST00000504937.5:p.Arg43Leu
	ENST00000510385.5:c.128G>T	ENST00000510385.5:p.Arg43Leu
	ENST00000576024.2:c.524G>T	ENST00000576024.2:p.Arg175Leu
	ENST00000604348.6:c.503G>T	ENST00000604348.6:p.Arg168Leu
	ENST00000610292.4:c.407G>T	ENST00000610292.4:p.Arg136Leu
	ENST00000610538.4:c.407G>T	ENST00000610538.4:p.Arg136Leu
	ENST00000610623.4:c.47G>T	ENST00000610623.4:p.Arg16Leu
	ENST00000618944.4:c.47G>T	ENST00000618944.4:p.Arg16Leu
	ENST00000619186.4:c.47G>T	ENST00000619186.4:p.Arg16Leu
	ENST00000714408.1:c.524G>T	ENST00000714408.1:p.Arg175Leu
	ENST00000714409.1:c.524G>T	ENST00000714409.1:p.Arg175Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

TP53

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	COSM4271918	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-08-16	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	The consensus coding sequences of human breast and colorectal cancers.	UNIPROT	16959974	Detail
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail
0.382	osteosarcoma	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,...	BeFree	16778209	Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.031	Osteosarcoma of bone	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H,...	BeFree	16778209	Detail
0.001	Squamous cell carcinoma of pharynx	Using short hairpin RNA against p53, transient ectopic expression of wild-type p...	BeFree	21308745	Detail
<0.001	Glioma	Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R2...	BeFree	18202704	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Primary myelofibrosis	A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre...	BeFree	22052707	Detail
<0.001	Non-small cell lung carcinoma	The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up...	BeFree	21621504	Detail
0.219	Non-small cell lung carcinoma	The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up...	BeFree	21621504	Detail
0.029	breast carcinoma	Since the p53 tumor suppressor pathway is inactivated in most human cancers due ...	BeFree	19507255	Detail
0.080	breast carcinoma	Since the p53 tumor suppressor pathway is inactivated in most human cancers due ...	BeFree	19507255	Detail
0.121	endometrial carcinoma	Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer...	BeFree	19917135	Detail
0.005	Carcinoma, Large Cell	The results demonstrate that the excision of incorporated nucleoside analogs in ...	BeFree	19287302	Detail
0.240	Malignant neoplasm of breast	Since the p53 tumor suppressor pathway is inactivated in most human cancers due ...	BeFree	19507255	Detail
0.038	Malignant neoplasm of breast	Since the p53 tumor suppressor pathway is inactivated in most human cancers due ...	BeFree	19507255	Detail
0.017	Malignant neoplasm of endometrium	Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer...	BeFree	19917135	Detail
0.017	Congenital chromosomal disease	Moreover, we noted an association between some chromosomal abnormalities and tel...	BeFree	25059482	Detail
0.031	Osteosarcoma of bone	Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppres...	BeFree	15578696	Detail
0.041	melanoma	Since loss of p53 tumor suppressor function or overexpression of the anti-apopto...	BeFree	18458532	Detail
0.017	uterine corpus cancer	Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer...	BeFree	19917135	Detail
0.226	melanoma	Metabolic utilization of exogenous pyruvate by mutant p53 (R175H) human melanoma...	BeFree	21832879	Detail
0.382	osteosarcoma	Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppres...	BeFree	15578696	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) AND Li-Fraumeni syndrome 1	ClinVar	Detail
The consensus coding sequences of human breast and colorectal cancers.	DisGeNET	Detail
NA	DisGeNET	Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es...	DisGeNET	Detail
NA	DisGeNET	Detail
Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were es...	DisGeNET	Detail
Using short hairpin RNA against p53, transient ectopic expression of wild-type p53 or mutant p53 (R2...	DisGeNET	Detail
Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati...	DisGeNET	Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s...	DisGeNET	Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s...	DisGeNET	Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or...	DisGeNET	Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or...	DisGeNET	Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ...	DisGeNET	Detail
The results demonstrate that the excision of incorporated nucleoside analogs in mitochondrial fracti...	DisGeNET	Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or...	DisGeNET	Detail
Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or...	DisGeNET	Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ...	DisGeNET	Detail
Moreover, we noted an association between some chromosomal abnormalities and telomere elongation in ...	DisGeNET	Detail
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induce...	DisGeNET	Detail
Since loss of p53 tumor suppressor function or overexpression of the anti-apoptotic bcl-2 gene can d...	DisGeNET	Detail
Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase ...	DisGeNET	Detail
Metabolic utilization of exogenous pyruvate by mutant p53 (R175H) human melanoma cells promotes surv...	DisGeNET	Detail
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induce...	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: rs28934578 dbSNP
Genome: hg38
Position: chr17:7,675,088-7,675,088
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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