chr10:87952143:G>A 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	chr10:89,711,900-89,711,900 View the variant detail on this assembly version.
hg38	chr10:87,952,143-87,952,143

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.518G>A	NP_000305.3:p.Arg173His
	NM_001304717.2:c.518G>A	NP_001291646.2:p.Arg173His
	NM_001304718.1:c.518G>A	NP_001291647.1:p.Arg173His
Ensemble	ENST00000371953.8:c.518G>A	ENST00000371953.8:p.Arg173His
	ENST00000472832.3:c.518G>A	ENST00000472832.3:p.Arg173His
	ENST00000688308.1:c.518G>A	ENST00000688308.1:p.Arg173His
	ENST00000700021.1:c.473G>A	ENST00000700021.1:p.Arg158His
	ENST00000700029.2:c.518G>A	ENST00000700029.2:p.Arg173His
	ENST00000713839.1:c.611G>A	ENST00000713839.1:p.Arg204His

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	Pathogenic 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	COSM5039	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Pathogenic	2022-12-12	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2023-12-09	criteria provided, multiple submitters, no conflicts	PTEN hamartoma tumor syndrome	germline maternal paternal	Detail
Pathogenic Likely pathogenic	2023-09-28	criteria provided, multiple submitters, no conflicts	Cowden syndrome 1	germline unknown	Detail
Likely pathogenic	2023-04-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.518G>A (p.Arg173His) AND Neoplasm of brain	ClinVar	Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND not provided	ClinVar	Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Cowden syndrome 1	ClinVar	Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Hereditary cancer-predisposing syndrome	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: rs121913294 dbSNP
Genome: hg38
Position: chr10:87,952,143-87,952,143
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
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): 121292
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.244566830458728E-6

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