chr10:89720804:ACTT> Detail (hg19) (PTEN)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:89,720,804-89,720,807
hg38	chr10:87,961,047-87,961,050

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.955_958delACTT	NP_000305.3:p.Thr319Ter
	NM_001304717.2:c.955_958delACTT	NP_001291646.2:p.Thr319Ter
	NM_001304718.1:c.955_958delACTT	NP_001291647.1:p.Thr319Ter
Ensemble	ENST00000713839.1:c.1048_1051delACTT	ENST00000713839.1:p.Thr350Ter
	ENST00000371953.8:c.955_958delACTT	ENST00000371953.8:p.Thr319Ter
	ENST00000472832.3:c.955_958delACTT	ENST00000472832.3:p.Thr319Ter
	ENST00000688308.1:c.955_958delACTT	ENST00000688308.1:p.Thr319Ter
	ENST00000700021.1:c.910_913delACTT	ENST00000700021.1:p.Thr304Ter
	ENST00000700029.2:c.1048_1051delACTT	ENST00000700029.2:p.Thr350Ter

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	24
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM39566	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		caecum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ascending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		transverse colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		descending colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Endometrial cancer	somatic	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View
not provided		caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ascending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		transverse colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
skin melanoma	MEK Inhibitor CI-1040,Akt Inhibitor MK2206	D	Predictive	Supports	Sensitivity/Response	Somatic	3	24504448	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
A 26-year old patient presented with vemurafenib resistant BRAF V600E-mutated cutaneous melanoma. Fi...	CIViC Evidence	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: -
Genome: hg19
Position: chr10:89,720,804-89,720,807
Variant Type: snv
Reference Allele: ACTT
Alternative Allele: -
Variant (CIViC) (CIViC Variant): V317FS
Transcript 1 (CIViC Variant): ENST00000371953.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/605

Genome browser