chr10:89692886:T>C 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	chr10:89,692,886-89,692,886
hg38	chr10:87,933,129-87,933,129 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.370T>C	NP_000305.3:p.Cys124Arg
	NM_001304717.2:c.370T>C	NP_001291646.2:p.Cys124Arg
	NM_001304718.1:c.370T>C	NP_001291647.1:p.Cys124Arg
Ensemble	ENST00000371953.8:c.370T>C	ENST00000371953.8:p.Cys124Arg
	ENST00000472832.3:c.370T>C	ENST00000472832.3:p.Cys124Arg
	ENST00000688308.1:c.370T>C	ENST00000688308.1:p.Cys124Arg
	ENST00000700021.1:c.325T>C	ENST00000700021.1:p.Cys109Arg
	ENST00000700029.2:c.370T>C	ENST00000700029.2:p.Cys124Arg
	ENST00000713839.1:c.463T>C	ENST00000713839.1:p.Cys155Arg

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	COSM921089	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-09-27	criteria provided, single submitter	Cowden syndrome 1	germline unknown	Detail
Pathogenic	2018-03-07	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-06-25	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2019-10-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	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.370T>C (p.Cys124Arg) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) AND Gastric cancer	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: rs121909223 dbSNP
Genome: hg19
Position: chr10:89,692,886-89,692,886
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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