chr17:7577139:G>A Detail (hg19) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,577,139-7,577,139
hg38	chr17:7,673,821-7,673,821 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.403C>T	NP_001119588.1:p.Arg135Trp
	NM_001276698.1:c.403C>T	NP_001263627.1:p.Arg135Trp
	NM_001126113.2:c.799C>T	NP_001119585.1:p.Arg267Trp
	NM_001276695.1:c.799C>T	NP_001263624.1:p.Arg267Trp
	NM_000546.5:c.799C>T	NP_000537.3:p.Arg267Trp
	NM_001126112.2:c.799C>T	NP_001119584.1:p.Arg267Trp
	NM_001276760.1:c.799C>T	NP_001263689.1:p.Arg267Trp
	NM_001276761.1:c.799C>T	NP_001263690.1:p.Arg267Trp
	NM_001126117.1:c.322C>T	NP_001119589.1:p.Arg108Trp
	NM_001276699.1:c.322C>T	NP_001263628.1:p.Arg108Trp
	NM_001126118.1:c.682C>T	NP_001119590.1:p.Arg228Trp
	NM_001126115.1:c.322C>T	NP_001119587.1:p.Arg108Trp
	NM_001276697.1:c.322C>T	NP_001263626.1:p.Arg108Trp
	NM_001276696.1:c.682C>T	NP_001263625.1:p.Arg228Trp
Ensemble	ENST00000576024.2:c.799C>T	ENST00000576024.2:p.Arg267Trp
	ENST00000504937.5:c.403C>T	ENST00000504937.5:p.Arg135Trp
	ENST00000510385.5:c.403C>T	ENST00000510385.5:p.Arg135Trp
	ENST00000604348.6:c.778C>T	ENST00000604348.6:p.Arg260Trp
	ENST00000504290.5:c.403C>T	ENST00000504290.5:p.Arg135Trp
	ENST00000455263.6:c.799C>T	ENST00000455263.6:p.Arg267Trp
	ENST00000269305.9:c.799C>T	ENST00000269305.9:p.Arg267Trp
	ENST00000359597.8:c.799C>T	ENST00000359597.8:p.Arg267Trp
	ENST00000413465.6:c.782+360C>T
	ENST00000420246.6:c.799C>T	ENST00000420246.6:p.Arg267Trp
	ENST00000445888.6:c.799C>T	ENST00000445888.6:p.Arg267Trp
	ENST00000610623.4:c.322C>T	ENST00000610623.4:p.Arg108Trp
	ENST00000610292.4:c.682C>T	ENST00000610292.4:p.Arg228Trp
	ENST00000610538.4:c.682C>T	ENST00000610538.4:p.Arg228Trp
	ENST00000618944.4:c.322C>T	ENST00000618944.4:p.Arg108Trp
	ENST00000619186.4:c.322C>T	ENST00000619186.4:p.Arg108Trp
	ENST00000619485.4:c.682C>T	ENST00000619485.4:p.Arg228Trp
	ENST00000620739.4:c.682C>T	ENST00000620739.4:p.Arg228Trp
	ENST00000622645.4:c.682C>T	ENST00000622645.4:p.Arg228Trp
	ENST00000714356.1:c.682C>T	ENST00000714356.1:p.Arg228Trp
	ENST00000714357.1:c.799C>T	ENST00000714357.1:p.Arg267Trp
	ENST00000714359.1:c.799C>T	ENST00000714359.1:p.Arg267Trp
	ENST00000714408.1:c.799C>T	ENST00000714408.1:p.Arg267Trp
	ENST00000714409.1:c.799C>T	ENST00000714409.1:p.Arg267Trp

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	11
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	COSM3717629	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation
Likely pathogenic	2020/04/20	body of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Likely pathogenic		Primary malignant neoplasm of extrahepatic bile duct (disorder)	unknown	MGS000023 (TMGS000082)	Manabu Muto	Kyoto University
Pathogenic	2021/03/19	breast	germline	MGS000048 (TMGS000112)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Likely pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	caecum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/04/20	malignant neoplasm of rectosigmoid junction	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2024-02-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-10-30	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2023-12-18	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Li-Fraumeni syndrome 1,Basal cell carcinoma, susceptibility to, 7,Nasopharyngeal carcinoma,choroid plexus papilloma,Adrenocortical carcinoma, hereditary,bone osteosarcoma,hepatocellular carcinoma,Familial cancer of breast,Glioma susceptibility 1,Carcinoma of pancreas	unknown	Detail
Pathogenic	2019-04-30	no assertion criteria provided	Lip and oral cavity carcinoma	somatic	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Likely pathogenic	2024-02-20	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	Detail
Likely pathogenic	2021-11-15	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic Likely pathogenic	2024-04-04	criteria provided, multiple submitters, no conflicts	Adrenocortical carcinoma, hereditary	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND multiple conditions	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Lip and oral cavity carcinoma	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Familial cancer of breast	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) AND Adrenocortical carcinoma, hereditary	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: rs55832599 dbSNP
Genome: hg19
Position: chr17:7,577,139-7,577,139
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chr17:7577139:G>A Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript