chr10:87933223:A>G Detail (hg38) (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	chr10:89,692,980-89,692,980 View the variant detail on this assembly version.
hg38	chr10:87,933,223-87,933,223

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.464A>G	NP_000305.3:p.Tyr155Cys
	NM_001304717.2:c.464A>G	NP_001291646.2:p.Tyr155Cys
	NM_001304718.1:c.464A>G	NP_001291647.1:p.Tyr155Cys
Ensemble	ENST00000371953.8:c.464A>G	ENST00000371953.8:p.Tyr155Cys
	ENST00000472832.3:c.464A>G	ENST00000472832.3:p.Tyr155Cys
	ENST00000688308.1:c.464A>G	ENST00000688308.1:p.Tyr155Cys
	ENST00000700021.1:c.419A>G	ENST00000700021.1:p.Tyr140Cys
	ENST00000700029.2:c.464A>G	ENST00000700029.2:p.Tyr155Cys
	ENST00000713839.1:c.557A>G	ENST00000713839.1:p.Tyr186Cys

Summary

MGeND

Clinical significance
Variant entry
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	tgv272616124	TogoVar
	COSMIC	COSM5144	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-11-22	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-09-28	criteria provided, conflicting interpretations	Cowden syndrome 1	de novo inherited unknown	Detail
Pathogenic	2021-03-09	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-04-27	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2019-01-14	criteria provided, single submitter	PTEN hamartoma tumor syndromes	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2023-05-25	criteria provided, single submitter	macrocephaly-autism syndrome,Cowden syndrome 1	germline	Detail
Pathogenic	2023-05-25	criteria provided, single submitter	macrocephaly-autism syndrome,Cowden syndrome 1	germline	Detail
Pathogenic	2023-09-12	criteria provided, single submitter	Glioma susceptibility 2	unknown	Detail
Pathogenic	2024-02-01	criteria provided, single submitter	papillary tumor of the pineal region	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND PTEN hamartoma tumor syndromes	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Gastric cancer	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Glioma susceptibility 2	ClinVar	Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Papillary tumor of the pineal region	ClinVar	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: rs1060500126 dbSNP
Genome: hg38
Position: chr10:87,933,223-87,933,223
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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