chr10:87933148:G>C Detail (hg38) (PTEN)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:89,692,905-89,692,905 View the variant detail on this assembly version.
hg38	chr10:87,933,148-87,933,148

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.389G>C	NP_000305.3:p.Arg130Pro
	NM_001304717.2:c.389G>C	NP_001291646.2:p.Arg130Pro
	NM_001304718.1:c.389G>C	NP_001291647.1:p.Arg130Pro
Ensemble	ENST00000371953.8:c.389G>C	ENST00000371953.8:p.Arg130Pro
	ENST00000472832.3:c.389G>C	ENST00000472832.3:p.Arg130Pro
	ENST00000688308.1:c.389G>C	ENST00000688308.1:p.Arg130Pro
	ENST00000700021.1:c.344G>C	ENST00000700021.1:p.Arg115Pro
	ENST00000700029.2:c.389G>C	ENST00000700029.2:p.Arg130Pro
	ENST00000713839.1:c.482G>C	ENST00000713839.1:p.Arg161Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM5277	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2018-03-29	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Small cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Papillary renal cell carcinoma type 1	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Pathogenic	2019-11-22	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.126	PTEN hamartoma tumor syndrome	NA	CLINVAR		Detail
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Malignant melanoma of skin	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Prostate adenocarcinoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Uterine carcinosarcoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Small cell lung carcinoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Breast neoplasm	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Glioblastoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NA	DisGeNET	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: rs121909229 dbSNP
Genome: hg38
Position: chr10:87,933,148-87,933,148
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser