chr10:89624298: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	chr10:89,624,298-89,624,298
hg38	chr10:87,864,541-87,864,541 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.72C>T	NP_000305.3:p.Asp24=
	NM_001304717.2:c.72C>T	NP_001291646.2:p.Asp24=
	NM_001304718.1:c.72C>T	NP_001291647.1:p.Asp24=
Ensemble	ENST00000371953.8:c.72C>T	ENST00000371953.8:p.Asp24=
	ENST00000472832.3:c.72C>T	ENST00000472832.3:p.Asp24=
	ENST00000688308.1:c.72C>T	ENST00000688308.1:p.Asp24=
	ENST00000700021.1:c.72C>T	ENST00000700021.1:p.Asp24=
	ENST00000700029.2:c.72C>T	ENST00000700029.2:p.Asp24=
	ENST00000713839.1:c.72C>T	ENST00000713839.1:p.Asp24=

Summary

MGeND

Clinical significance	Benign Uncertain significance
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Benign	2021/03/19	control	germline	MGS000047 (TMGS000111)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-11-23	criteria provided, multiple submitters, no conflicts	PTEN hamartoma tumor syndrome	germline	Detail
Likely benign	2021-05-18	criteria provided, single submitter	not provided	unknown	Detail
Likely benign	2020-07-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND Hereditary cancer-predisposing syndrome	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: rs1320222638 dbSNP
Genome: hg19
Position: chr10:89,624,298-89,624,298
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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