chr10:89717712: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	chr10:89,717,712-89,717,712
hg38	chr10:87,957,955-87,957,955 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.737C>T	NP_000305.3:p.Pro246Leu
	NM_001304717.2:c.737C>T	NP_001291646.2:p.Pro246Leu
	NM_001304718.1:c.737C>T	NP_001291647.1:p.Pro246Leu
Ensemble	ENST00000371953.8:c.737C>T	ENST00000371953.8:p.Pro246Leu
	ENST00000472832.3:c.737C>T	ENST00000472832.3:p.Pro246Leu
	ENST00000688308.1:c.737C>T	ENST00000688308.1:p.Pro246Leu
	ENST00000700021.1:c.692C>T	ENST00000700021.1:p.Pro231Leu
	ENST00000700029.2:c.737C>T	ENST00000700029.2:p.Pro246Leu
	ENST00000713839.1:c.830C>T	ENST00000713839.1:p.Pro277Leu

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
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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	COSM5111	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	malignant neoplasm of rectum	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-08-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2022-02-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-10-18	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-04-05	criteria provided, multiple submitters, no conflicts	Cowden syndrome 1	germline unknown	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	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.737C>T (p.Pro246Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) 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: rs587782350 dbSNP
Genome: hg19
Position: chr10:89,717,712-89,717,712
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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