chr17:7670678:A>G 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	chr17:7,573,996-7,573,996 View the variant detail on this assembly version.
hg38	chr17:7,670,678-7,670,678

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.1031T>C	NP_000537.3:p.Leu344Pro
	NM_001126112.2:c.1031T>C	NP_001119584.1:p.Leu344Pro
	NM_001276760.1:c.1031T>C	NP_001263689.1:p.Leu344Pro
	NM_001276761.1:c.1031T>C	NP_001263690.1:p.Leu344Pro
	NM_001126113.2:c.*50T>C
	NM_001276695.1:c.*50T>C
	NM_001126116.1:c.*138T>C
	NM_001276698.1:c.*138T>C
	NM_001126118.1:c.914T>C	NP_001119590.1:p.Leu305Pro
	NM_001126117.1:c.*50T>C
	NM_001276699.1:c.*50T>C
	NM_001126115.1:c.554T>C	NP_001119587.1:p.Leu185Pro
	NM_001276697.1:c.554T>C	NP_001263626.1:p.Leu185Pro
	NM_001276696.1:c.*138T>C
Ensemble	ENST00000269305.9:c.1031T>C	ENST00000269305.9:p.Leu344Pro
	ENST00000359597.8:c.993+2857T>C
	ENST00000413465.6:c.782+3503T>C
	ENST00000420246.6:c.*138T>C
	ENST00000445888.6:c.1031T>C	ENST00000445888.6:p.Leu344Pro
	ENST00000455263.6:c.*50T>C
	ENST00000504290.5:c.*50T>C
	ENST00000504937.5:c.635T>C	ENST00000504937.5:p.Leu212Pro
	ENST00000510385.5:c.*138T>C
	ENST00000576024.2:c.994-988T>C
	ENST00000604348.6:c.1010T>C	ENST00000604348.6:p.Leu337Pro
	ENST00000610292.4:c.914T>C	ENST00000610292.4:p.Leu305Pro
	ENST00000610538.4:c.*50T>C
	ENST00000610623.4:c.*50T>C
	ENST00000618944.4:c.*138T>C
	ENST00000619186.4:c.554T>C	ENST00000619186.4:p.Leu185Pro
	ENST00000619485.4:c.914T>C	ENST00000619485.4:p.Leu305Pro
	ENST00000620739.4:c.914T>C	ENST00000620739.4:p.Leu305Pro
	ENST00000622645.4:c.*138T>C
	ENST00000714356.1:c.914T>C	ENST00000714356.1:p.Leu305Pro
	ENST00000714357.1:c.1031T>C	ENST00000714357.1:p.Leu344Pro
	ENST00000714359.1:c.1031T>C	ENST00000714359.1:p.Leu344Pro
	ENST00000714408.1:c.1031T>C	ENST00000714408.1:p.Leu344Pro
	ENST00000714409.1:c.1031T>C	ENST00000714409.1:p.Leu344Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM44070	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-02-21	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline unknown	Detail
Likely pathogenic	2019-08-28	reviewed by expert panel	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2015-11-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2021-06-13	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail
Likely pathogenic		no assertion criteria provided	Adrenal cortex carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenal cortex carcinoma	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: rs121912662 dbSNP
Genome: hg38
Position: chr17:7,670,678-7,670,678
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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