chr10:89720731:T>G Detail (hg19) (PTEN)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr10:89,720,731-89,720,731
hg38	chr10:87,960,974-87,960,974 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_001304718.1:c.882T>G	NP_001291647.1:p.Ser294Arg
	NM_000314.6:c.882T>G	NP_000305.3:p.Ser294Arg
	NM_001304717.2:c.882T>G	NP_001291646.2:p.Ser294Arg
Ensemble	ENST00000700021.1:c.837T>G	ENST00000700021.1:p.Ser279Arg
	ENST00000472832.3:c.882T>G	ENST00000472832.3:p.Ser294Arg
	ENST00000713839.1:c.975T>G	ENST00000713839.1:p.Ser325Arg
	ENST00000700029.2:c.975T>G	ENST00000700029.2:p.Ser325Arg
	ENST00000371953.8:c.882T>G	ENST00000371953.8:p.Ser294Arg
	ENST00000688308.1:c.882T>G	ENST00000688308.1:p.Ser294Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely benign
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2022-11-01	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2021-06-16	criteria provided, conflicting interpretations	not specified	germline	Detail
Likely benign	2023-08-04	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline unknown	Detail
Uncertain significance	2023-04-05	criteria provided, multiple submitters, no conflicts	Cowden syndrome 1	unknown	Detail
Conflicting interpretations of pathogenicity	2022-12-21	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Uncertain significance	2020-04-07	criteria provided, single submitter		germline	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	Glioma susceptibility 2,familial meningioma,macrocephaly-autism syndrome,Cowden syndrome 1,Malignant tumor of prostate	unknown	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	Glioma susceptibility 2,familial meningioma,macrocephaly-autism syndrome,Cowden syndrome 1,Malignant tumor of prostate	unknown	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	Glioma susceptibility 2,familial meningioma,macrocephaly-autism syndrome,Cowden syndrome 1,Malignant tumor of prostate	unknown	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	Glioma susceptibility 2,familial meningioma,macrocephaly-autism syndrome,Cowden syndrome 1,Malignant tumor of prostate	unknown	Detail
Uncertain significance	2022-04-16	criteria provided, single submitter	Glioma susceptibility 2,familial meningioma,macrocephaly-autism syndrome,Cowden syndrome 1,Malignant tumor of prostate	unknown	Detail
not provided		no assertion provided	Cowden syndrome 1,macrocephaly-autism syndrome	paternal	Detail
not provided		no assertion provided	Cowden syndrome 1,macrocephaly-autism syndrome	paternal	Detail
Likely benign	2024-01-30	criteria provided, single submitter	PTEN-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND not specified	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND See cases	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions	ClinVar	Detail
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND PTEN-related disorder	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: rs143335584 dbSNP
Genome: hg19
Position: chr10:89,720,731-89,720,731
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120892
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.617476756112895E-5

Genome browser