chr10:87952132:C> Detail (hg38) (PTEN)

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

Genome

Assembly	Position
hg19	chr10:89,711,889-89,711,889
hg38	chr10:87,952,132-87,952,132

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.507delC	NP_000305.3:p.Ser170ValfsTer13
	NM_001304717.2:c.507delC	NP_001291646.2:p.Ser170ValfsTer13
	NM_001304718.1:c.507delC	NP_001291647.1:p.Ser170ValfsTer13
Ensemble	ENST00000371953.8:c.507delC	ENST00000371953.8:p.Ser170ValfsTer13
	ENST00000472832.3:c.507delC	ENST00000472832.3:p.Ser170ValfsTer13
	ENST00000688308.1:c.507delC	ENST00000688308.1:p.Ser170ValfsTer13
	ENST00000700021.1:c.462delC	ENST00000700021.1:p.Ser155ValfsTer13
	ENST00000700029.2:c.507delC	ENST00000700029.2:p.Ser170ValfsTer13
	ENST00000713839.1:c.600delC	ENST00000713839.1:p.Ser201ValfsTer13

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

PTEN

Type	Database	ID	Link
Gene	MIM	601728	OMIM
	HGNC	9588	HGNC
	Ensembl	ENSG00000171862	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6919116	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-11-01	no assertion criteria provided	Proteus-like syndrome	unknown	Detail
Pathogenic	2023-09-28	criteria provided, single submitter	Cowden syndrome 1	unknown	Detail
Pathogenic	2018-07-25	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.126	PTEN hamartoma tumor syndrome	NA	CLINVAR		Detail
0.241	Proteus-Like Syndrome (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.507del (p.Ser170fs) AND Proteus-like syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.507del (p.Ser170fs) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.507del (p.Ser170fs) AND PTEN hamartoma tumor syndrome	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: rs587776673 dbSNP
Genome: hg38
Position: chr10:87,952,132-87,952,132
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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