chr10:87961079:TAAA> 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	chr10:89,720,836-89,720,839
hg38	chr10:87,961,079-87,961,082

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.987_990delTAAA	NP_000305.3:p.Asn329LysfsTer14
	NM_001304717.2:c.987_990delTAAA	NP_001291646.2:p.Asn329LysfsTer14
	NM_001304718.1:c.987_990delTAAA	NP_001291647.1:p.Asn329LysfsTer33
Ensemble	ENST00000371953.8:c.987_990delTAAA	ENST00000371953.8:p.Asn329LysfsTer14
	ENST00000472832.3:c.987_990delTAAA	ENST00000472832.3:p.Asn329LysfsTer33
	ENST00000688308.1:c.987_990delTAAA	ENST00000688308.1:p.Asn329LysfsTer14
	ENST00000700021.1:c.942_945delTAAA	ENST00000700021.1:p.Asn314LysfsTer14
	ENST00000700029.2:c.1080_1083delTAAA	ENST00000700029.2:p.Asn360LysfsTer14
	ENST00000713839.1:c.1080_1083delTAAA	ENST00000713839.1:p.Asn360LysfsTer14

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	COSM4932	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-03-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-07-05	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-10-18	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	Cowden syndrome 1	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.987_990del (p.Asn329fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) 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: rs587782304 dbSNP
Genome: hg38
Position: chr10:87,961,079-87,961,082
Variant Type: snv
Reference Allele: TAAA
Alternative Allele: -

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