chr17:7674238:C>G Detail (hg38) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,577,556-7,577,556 View the variant detail on this assembly version.
hg38	chr17:7,674,238-7,674,238

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.725G>C	NP_000537.3:p.Cys242Ser
	NM_001126112.2:c.725G>C	NP_001119584.1:p.Cys242Ser
	NM_001276760.1:c.725G>C	NP_001263689.1:p.Cys242Ser
	NM_001276761.1:c.725G>C	NP_001263690.1:p.Cys242Ser
	NM_001126113.2:c.725G>C	NP_001119585.1:p.Cys242Ser
	NM_001276695.1:c.725G>C	NP_001263624.1:p.Cys242Ser
	NM_001126116.1:c.329G>C	NP_001119588.1:p.Cys110Ser
	NM_001276698.1:c.329G>C	NP_001263627.1:p.Cys110Ser
	NM_001126118.1:c.608G>C	NP_001119590.1:p.Cys203Ser
	NM_001126117.1:c.248G>C	NP_001119589.1:p.Cys83Ser
	NM_001276699.1:c.248G>C	NP_001263628.1:p.Cys83Ser
	NM_001126115.1:c.248G>C	NP_001119587.1:p.Cys83Ser
	NM_001276697.1:c.248G>C	NP_001263626.1:p.Cys83Ser
	NM_001276696.1:c.608G>C	NP_001263625.1:p.Cys203Ser
Ensemble	ENST00000269305.9:c.725G>C	ENST00000269305.9:p.Cys242Ser
	ENST00000359597.8:c.725G>C	ENST00000359597.8:p.Cys242Ser
	ENST00000413465.6:c.725G>C	ENST00000413465.6:p.Cys242Ser
	ENST00000420246.6:c.725G>C	ENST00000420246.6:p.Cys242Ser
	ENST00000445888.6:c.725G>C	ENST00000445888.6:p.Cys242Ser
	ENST00000714356.1:c.608G>C	ENST00000714356.1:p.Cys203Ser
	ENST00000714359.1:c.725G>C	ENST00000714359.1:p.Cys242Ser
	ENST00000455263.6:c.725G>C	ENST00000455263.6:p.Cys242Ser
	ENST00000504290.5:c.329G>C	ENST00000504290.5:p.Cys110Ser
	ENST00000504937.5:c.329G>C	ENST00000504937.5:p.Cys110Ser
	ENST00000510385.5:c.329G>C	ENST00000510385.5:p.Cys110Ser
	ENST00000576024.2:c.725G>C	ENST00000576024.2:p.Cys242Ser
	ENST00000604348.6:c.704G>C	ENST00000604348.6:p.Cys235Ser
	ENST00000610292.4:c.608G>C	ENST00000610292.4:p.Cys203Ser
	ENST00000610538.4:c.608G>C	ENST00000610538.4:p.Cys203Ser
	ENST00000610623.4:c.248G>C	ENST00000610623.4:p.Cys83Ser
	ENST00000618944.4:c.248G>C	ENST00000618944.4:p.Cys83Ser
	ENST00000619186.4:c.248G>C	ENST00000619186.4:p.Cys83Ser
	ENST00000619485.4:c.608G>C	ENST00000619485.4:p.Cys203Ser
	ENST00000620739.4:c.608G>C	ENST00000620739.4:p.Cys203Ser
	ENST00000622645.4:c.608G>C	ENST00000622645.4:p.Cys203Ser
	ENST00000714357.1:c.725G>C	ENST00000714357.1:p.Cys242Ser
	ENST00000714408.1:c.725G>C	ENST00000714408.1:p.Cys242Ser
	ENST00000714409.1:c.725G>C	ENST00000714409.1:p.Cys242Ser

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

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	COSM3717642	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-10-23	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2024-02-16	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
0.126	Li-fraumeni-like syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.725G>C (p.Cys242Ser) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.725G>C (p.Cys242Ser) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NA	DisGeNET	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: rs121912655 dbSNP
Genome: hg38
Position: chr17:7,674,238-7,674,238
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121376
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): 8.238861059847087E-6

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