chr17:7578550: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	chr17:7,578,550-7,578,550
hg38	chr17:7,675,232-7,675,232 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.-17C>T
	NM_001276698.1:c.-17C>T
	NM_001126113.2:c.380C>T	NP_001119585.1:p.Ser127Phe
	NM_001276695.1:c.380C>T	NP_001263624.1:p.Ser127Phe
	NM_000546.5:c.380C>T	NP_000537.3:p.Ser127Phe
	NM_001126112.2:c.380C>T	NP_001119584.1:p.Ser127Phe
	NM_001276760.1:c.380C>T	NP_001263689.1:p.Ser127Phe
	NM_001276761.1:c.380C>T	NP_001263690.1:p.Ser127Phe
	NM_001126118.1:c.263C>T	NP_001119590.1:p.Ser88Phe
	NM_001126117.1:c.-98C>T
	NM_001276699.1:c.-98C>T
	NM_001126115.1:c.-98C>T
	NM_001276697.1:c.-98C>T
	NM_001276696.1:c.263C>T	NP_001263625.1:p.Ser88Phe
Ensemble	ENST00000504937.5:c.-17C>T
	ENST00000510385.5:c.-17C>T
	ENST00000604348.6:c.376-17C>T
	ENST00000455263.6:c.380C>T	ENST00000455263.6:p.Ser127Phe
	ENST00000504290.5:c.-17C>T
	ENST00000576024.2:c.380C>T	ENST00000576024.2:p.Ser127Phe
	ENST00000269305.9:c.380C>T	ENST00000269305.9:p.Ser127Phe
	ENST00000359597.8:c.380C>T	ENST00000359597.8:p.Ser127Phe
	ENST00000413465.6:c.380C>T	ENST00000413465.6:p.Ser127Phe
	ENST00000420246.6:c.380C>T	ENST00000420246.6:p.Ser127Phe
	ENST00000445888.6:c.380C>T	ENST00000445888.6:p.Ser127Phe
	ENST00000610292.4:c.263C>T	ENST00000610292.4:p.Ser88Phe
	ENST00000610538.4:c.263C>T	ENST00000610538.4:p.Ser88Phe
	ENST00000610623.4:c.-98C>T
	ENST00000618944.4:c.-98C>T
	ENST00000619186.4:c.-98C>T
	ENST00000619485.4:c.263C>T	ENST00000619485.4:p.Ser88Phe
	ENST00000620739.4:c.263C>T	ENST00000620739.4:p.Ser88Phe
	ENST00000622645.4:c.263C>T	ENST00000622645.4:p.Ser88Phe
	ENST00000714356.1:c.263C>T	ENST00000714356.1:p.Ser88Phe
	ENST00000714357.1:c.380C>T	ENST00000714357.1:p.Ser127Phe
	ENST00000714359.1:c.380C>T	ENST00000714359.1:p.Ser127Phe
	ENST00000714408.1:c.380C>T	ENST00000714408.1:p.Ser127Phe
	ENST00000714409.1:c.380C>T	ENST00000714409.1:p.Ser127Phe

Summary

MGeND

Clinical significance	not provided
Variant entry	18
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM1637542	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute	Citation
not provided	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	body of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	stomach, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	Carcinoma of cecum (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided	Bladder cancer	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided	ill-defined sites within the digestive system	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	stomach, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-10-07	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2023-05-19	criteria provided, conflicting interpretations	not specified	germline	Detail
Pathogenic	2023-10-04	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Pathogenic Likely pathogenic	2021-03-19	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2023-03-09	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-09-21	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail
Likely pathogenic	2024-02-13	criteria provided, single submitter	Li-Fraumeni syndrome 1	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.380C>T (p.Ser127Phe) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND not specified	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Li-Fraumeni syndrome 1	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: rs730881999 dbSNP
Genome: hg19
Position: chr17:7,578,550-7,578,550
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chr17:7578550:G>A Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript