chr10:89717708:C>T 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	chr10:89,717,708-89,717,708
hg38	chr10:87,957,951-87,957,951 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.733C>T	NP_000305.3:p.Gln245Ter
	NM_001304717.2:c.733C>T	NP_001291646.2:p.Gln245Ter
	NM_001304718.1:c.733C>T	NP_001291647.1:p.Gln245Ter
Ensemble	ENST00000371953.8:c.733C>T	ENST00000371953.8:p.Gln245Ter
	ENST00000472832.3:c.733C>T	ENST00000472832.3:p.Gln245Ter
	ENST00000688308.1:c.733C>T	ENST00000688308.1:p.Gln245Ter
	ENST00000700021.1:c.688C>T	ENST00000700021.1:p.Gln230Ter
	ENST00000700029.2:c.733C>T	ENST00000700029.2:p.Gln245Ter
	ENST00000713839.1:c.826C>T	ENST00000713839.1:p.Gln276Ter

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	15
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	COSM5159	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	oesophagus, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	colon, unspecified	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	ill-defined sites within the digestive system	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		cowden disease	germline	MGS000073 (TMGS000155)	Kenjiro Kosaki	Keio University IRUD
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-08-30	criteria provided, multiple submitters, no conflicts	PTEN hamartoma tumor syndrome	germline somatic unknown	Detail
Pathogenic	2019-06-26	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-09-29	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.733C>T (p.Gln245Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) 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: rs786202918 dbSNP
Genome: hg19
Position: chr10:89,717,708-89,717,708
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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