chr10:89692923:G>A Detail (hg19) (PTEN)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr10:89,692,923-89,692,923
hg38	chr10:87,933,166-87,933,166 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.407G>A	NP_000305.3:p.Cys136Tyr
	NM_001304717.2:c.407G>A	NP_001291646.2:p.Cys136Tyr
	NM_001304718.1:c.407G>A	NP_001291647.1:p.Cys136Tyr
Ensemble	ENST00000371953.8:c.407G>A	ENST00000371953.8:p.Cys136Tyr
	ENST00000472832.3:c.407G>A	ENST00000472832.3:p.Cys136Tyr
	ENST00000688308.1:c.407G>A	ENST00000688308.1:p.Cys136Tyr
	ENST00000700021.1:c.362G>A	ENST00000700021.1:p.Cys121Tyr
	ENST00000700029.2:c.407G>A	ENST00000700029.2:p.Cys136Tyr
	ENST00000713839.1:c.500G>A	ENST00000713839.1:p.Cys167Tyr

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
Show details

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	COSM12734	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	body of stomach	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Ovarian serous tumour	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-11-23	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2017-10-18	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail
Likely pathogenic	2023-09-27	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.407G>A (p.Cys136Tyr) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) AND Malignant tumor of urinary bladder	ClinVar	Detail
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) 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: rs786204859 dbSNP
Genome: hg19
Position: chr10:89,692,923-89,692,923
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser