chr10:89685287:A>G 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	chr10:89,685,287-89,685,287
hg38	chr10:87,925,530-87,925,530 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_001304718.1:c.182A>G	NP_001291647.1:p.His61Arg
	NM_000314.6:c.182A>G	NP_000305.3:p.His61Arg
	NM_001304717.2:c.182A>G	NP_001291646.2:p.His61Arg
Ensemble	ENST00000713839.1:c.275A>G	ENST00000713839.1:p.His92Arg
	ENST00000472832.3:c.182A>G	ENST00000472832.3:p.His61Arg
	ENST00000700021.1:c.165-5516A>G
	ENST00000688308.1:c.182A>G	ENST00000688308.1:p.His61Arg
	ENST00000371953.8:c.182A>G	ENST00000371953.8:p.His61Arg
	ENST00000700029.2:c.182A>G	ENST00000700029.2:p.His61Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM5042	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-12-01	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline paternal	Detail
Likely pathogenic	2023-04-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2023-09-26	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.182A>G (p.His61Arg) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.182A>G (p.His61Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.182A>G (p.His61Arg) AND Neoplasm of ovary	ClinVar	Detail
NM_000314.8(PTEN):c.182A>G (p.His61Arg) 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: rs398123316 dbSNP
Genome: hg19
Position: chr10:89,685,287-89,685,287
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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