chr17:7674252: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	chr17:7,577,570-7,577,570 View the variant detail on this assembly version.
hg38	chr17:7,674,252-7,674,252

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.711G>T	NP_000537.3:p.Met237Ile
	NM_001126112.2:c.711G>T	NP_001119584.1:p.Met237Ile
	NM_001276760.1:c.711G>T	NP_001263689.1:p.Met237Ile
	NM_001276761.1:c.711G>T	NP_001263690.1:p.Met237Ile
	NM_001126113.2:c.711G>T	NP_001119585.1:p.Met237Ile
	NM_001276695.1:c.711G>T	NP_001263624.1:p.Met237Ile
	NM_001126116.1:c.315G>T	NP_001119588.1:p.Met105Ile
	NM_001276698.1:c.315G>T	NP_001263627.1:p.Met105Ile
	NM_001126118.1:c.594G>T	NP_001119590.1:p.Met198Ile
	NM_001126117.1:c.234G>T	NP_001119589.1:p.Met78Ile
	NM_001276699.1:c.234G>T	NP_001263628.1:p.Met78Ile
	NM_001126115.1:c.234G>T	NP_001119587.1:p.Met78Ile
	NM_001276697.1:c.234G>T	NP_001263626.1:p.Met78Ile
	NM_001276696.1:c.594G>T	NP_001263625.1:p.Met198Ile
Ensemble	ENST00000269305.9:c.711G>T	ENST00000269305.9:p.Met237Ile
	ENST00000359597.8:c.711G>T	ENST00000359597.8:p.Met237Ile
	ENST00000413465.6:c.711G>T	ENST00000413465.6:p.Met237Ile
	ENST00000420246.6:c.711G>T	ENST00000420246.6:p.Met237Ile
	ENST00000445888.6:c.711G>T	ENST00000445888.6:p.Met237Ile
	ENST00000455263.6:c.711G>T	ENST00000455263.6:p.Met237Ile
	ENST00000504290.5:c.315G>T	ENST00000504290.5:p.Met105Ile
	ENST00000504937.5:c.315G>T	ENST00000504937.5:p.Met105Ile
	ENST00000510385.5:c.315G>T	ENST00000510385.5:p.Met105Ile
	ENST00000576024.2:c.711G>T	ENST00000576024.2:p.Met237Ile
	ENST00000604348.6:c.690G>T	ENST00000604348.6:p.Met230Ile
	ENST00000610292.4:c.594G>T	ENST00000610292.4:p.Met198Ile
	ENST00000610538.4:c.594G>T	ENST00000610538.4:p.Met198Ile
	ENST00000610623.4:c.234G>T	ENST00000610623.4:p.Met78Ile
	ENST00000618944.4:c.234G>T	ENST00000618944.4:p.Met78Ile
	ENST00000619186.4:c.234G>T	ENST00000619186.4:p.Met78Ile
	ENST00000619485.4:c.594G>T	ENST00000619485.4:p.Met198Ile
	ENST00000620739.4:c.594G>T	ENST00000620739.4:p.Met198Ile
	ENST00000622645.4:c.594G>T	ENST00000622645.4:p.Met198Ile
	ENST00000714356.1:c.594G>T	ENST00000714356.1:p.Met198Ile
	ENST00000714357.1:c.711G>T	ENST00000714357.1:p.Met237Ile
	ENST00000714359.1:c.711G>T	ENST00000714359.1:p.Met237Ile
	ENST00000714408.1:c.711G>T	ENST00000714408.1:p.Met237Ile
	ENST00000714409.1:c.711G>T	ENST00000714409.1:p.Met237Ile

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	COSM3378444	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2020-01-14	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail
Likely pathogenic	2022-08-30	criteria provided, single submitter	Adrenocortical carcinoma, hereditary	unknown	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	AMGMDS3	D	Predictive	Supports	Resistance		4	25730903	Detail
acute myeloid leukemia		D	Functional	Does Not Support	Neomorphic	Unknown	4	31395785	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1...	CIViC Evidence	Detail
The M237I mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. M237I/- c...	CIViC Evidence	Detail
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Malignant tumor of urinary bladder	ClinVar	Detail
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Adrenocortical carcinoma, hereditary	ClinVar	Detail
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Li-Fraumeni syndrome	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: rs587782664 dbSNP
Genome: hg38
Position: chr17:7,674,252-7,674,252
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): M237I
Transcript 1 (CIViC Variant): ENST00000269305.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1066

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