chr10:89720671:G>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	chr10:89,720,671-89,720,671
hg38	chr10:87,960,914-87,960,914 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_001304718.1:c.822G>A	NP_001291647.1:p.Trp274Ter
	NM_000314.6:c.822G>A	NP_000305.3:p.Trp274Ter
	NM_001304717.2:c.822G>A	NP_001291646.2:p.Trp274Ter
Ensemble	ENST00000472832.3:c.822G>A	ENST00000472832.3:p.Trp274Ter
	ENST00000688308.1:c.822G>A	ENST00000688308.1:p.Trp274Ter
	ENST00000713839.1:c.915G>A	ENST00000713839.1:p.Trp305Ter
	ENST00000700021.1:c.777G>A	ENST00000700021.1:p.Trp259Ter
	ENST00000700029.2:c.915G>A	ENST00000700029.2:p.Trp305Ter
	ENST00000371953.8:c.822G>A	ENST00000371953.8:p.Trp274Ter

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	COSM5158	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-08-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-05-07	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-11-30	criteria provided, single submitter	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2023-10-02	criteria provided, multiple submitters, no conflicts	Cowden syndrome 1	germline unknown	Detail
Pathogenic	2023-09-20	criteria provided, single submitter	PTEN-related disorder	germline	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.822G>A (p.Trp274Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) AND PTEN-related disorder	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: rs587782607 dbSNP
Genome: hg19
Position: chr10:89,720,671-89,720,671
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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