chr10:87933145:G>A 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	chr10:89,692,902-89,692,902 View the variant detail on this assembly version.
hg38	chr10:87,933,145-87,933,145

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.386G>A	NP_000305.3:p.Gly129Glu
	NM_001304717.2:c.386G>A	NP_001291646.2:p.Gly129Glu
	NM_001304718.1:c.386G>A	NP_001291647.1:p.Gly129Glu
Ensemble	ENST00000371953.8:c.386G>A	ENST00000371953.8:p.Gly129Glu
	ENST00000472832.3:c.386G>A	ENST00000472832.3:p.Gly129Glu
	ENST00000688308.1:c.386G>A	ENST00000688308.1:p.Gly129Glu
	ENST00000700021.1:c.341G>A	ENST00000700021.1:p.Gly114Glu
	ENST00000700029.2:c.386G>A	ENST00000700029.2:p.Gly129Glu
	ENST00000713839.1:c.479G>A	ENST00000713839.1:p.Gly160Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM28917	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-09-28	criteria provided, single submitter	Cowden syndrome 1	germline unknown	Detail
Pathogenic	2022-01-31	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-12-22	criteria provided, multiple submitters, no conflicts	PTEN hamartoma tumor syndrome	de novo germline maternal	Detail
Pathogenic	2018-05-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	stomach carcinoma	In this study, transduction of recombinant PTEN into GC-derived TMK-1 cells prom...	BeFree	18996641	Detail
0.001	Adenocarcinoma of lung (disorder)	Therefore, we created a tetracycline inducible expression system of wild-type PT...	BeFree	21333374	Detail
<0.001	stomach carcinoma	In this study, transduction of recombinant PTEN into GC-derived TMK-1 cells prom...	BeFree	18996641	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) AND Malignant tumor of urinary bladder	ClinVar	Detail
In this study, transduction of recombinant PTEN into GC-derived TMK-1 cells promoted PTEN nuclear lo...	DisGeNET	Detail
Therefore, we created a tetracycline inducible expression system of wild-type PTEN (PTEN-WT) as well...	DisGeNET	Detail
In this study, transduction of recombinant PTEN into GC-derived TMK-1 cells promoted PTEN nuclear lo...	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: rs121909218 dbSNP
Genome: hg38
Position: chr10:87,933,145-87,933,145
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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