chr10:89693007:A> Detail (hg19) (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	chr10:89,693,007-89,693,007
hg38	chr10:87,933,250-87,933,250

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.491delA	NP_000305.3:p.Lys164ArgfsTer3
	NM_001304717.2:c.491delA	NP_001291646.2:p.Lys164ArgfsTer3
	NM_001304718.1:c.491delA	NP_001291647.1:p.Lys164ArgfsTer3
Ensemble	ENST00000371953.8:c.491delA	ENST00000371953.8:p.Lys164ArgfsTer3
	ENST00000472832.3:c.491delA	ENST00000472832.3:p.Lys164ArgfsTer3
	ENST00000688308.1:c.491delA	ENST00000688308.1:p.Lys164ArgfsTer3
	ENST00000713839.1:c.584delA	ENST00000713839.1:p.Lys195ArgfsTer3
	ENST00000700021.1:c.446delA	ENST00000700021.1:p.Lys149ArgfsTer3
	ENST00000700029.2:c.491delA	ENST00000700029.2:p.Lys164ArgfsTer3

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	COSM1968242	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		endometrial carcinomas	somatic	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-10-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-07-30	criteria provided, single submitter	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2018-10-12	criteria provided, single submitter	PTEN hamartoma tumor syndromes	germline	Detail
Pathogenic	2023-09-28	criteria provided, single submitter	Cowden syndrome 1	germline 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_000314.8(PTEN):c.491del (p.Lys164fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.491del (p.Lys164fs) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.491del (p.Lys164fs) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.491del (p.Lys164fs) AND PTEN hamartoma tumor syndromes	ClinVar	Detail
NM_000314.8(PTEN):c.491del (p.Lys164fs) AND Cowden 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: rs786204900 dbSNP
Genome: hg19
Position: chr10:89,693,007-89,693,007
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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