chr10:87931090:G>T 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	chr10:89,690,847-89,690,847 View the variant detail on this assembly version.
hg38	chr10:87,931,090-87,931,090

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.253+1G>T
	NM_001304717.2:c.253+1G>T
	NM_001304718.1:c.253+1G>T
Ensemble	ENST00000371953.8:c.253+1G>T
	ENST00000472832.3:c.253+1G>T
	ENST00000688308.1:c.253+1G>T
	ENST00000700021.1:c.208+1G>T
	ENST00000700029.2:c.253+1G>T
	ENST00000713839.1:c.346+1G>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		cowden disease	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-06-28	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-03-29	criteria provided, single submitter	Cowden syndrome 1	germline unknown	Detail
Pathogenic	2023-09-04	criteria provided, single submitter	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2021-03-19	criteria provided, single submitter	macrocephaly-autism syndrome	de novo	Detail
Pathogenic	2017-12-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.253+1G>T AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.253+1G>T AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.253+1G>T AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.253+1G>T AND Macrocephaly-autism syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.253+1G>T AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587776667 dbSNP
Genome: hg38
Position: chr10:87,931,090-87,931,090
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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