chr16:2110656:G>A Detail (hg19) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,110,656-2,110,656
hg38	chr16:2,060,655-2,060,655 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318832.1:c.1009-15G>A
	NM_000548.4:c.976-15G>A
	NM_001318829.1:c.829-15G>A
	NM_001318827.1:c.865-15G>A
	NM_001318831.1:c.865-15G>A
	NM_001077183.2:c.976-15G>A
	NM_001114382.2:c.976-15G>A
Ensemble	ENST00000568454.6:c.1009-15G>A
	ENST00000219476.9:c.976-15G>A
	ENST00000382538.10:c.829-15G>A
	ENST00000439673.6:c.865-15G>A
	ENST00000401874.7:c.976-15G>A
	ENST00000350773.9:c.976-15G>A
	ENST00000642206.2:c.1021-15G>A
	ENST00000642365.2:c.976-15G>A
	ENST00000642561.1:c.976-15G>A
	ENST00000642797.1:c.976-15G>A
	ENST00000642936.1:c.976-15G>A
	ENST00000643088.1:c.976-15G>A
	ENST00000643946.1:c.976-15G>A
	ENST00000644043.1:c.976-15G>A
	ENST00000644329.1:c.976-15G>A
	ENST00000644335.1:c.976-15G>A
	ENST00000645186.2:c.976-15G>A
	ENST00000646388.1:c.976-15G>A

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

TSC2

Type	Database	ID	Link
Gene	MIM	191092	OMIM
	HGNC	12363	HGNC
	Ensembl	ENSG00000103197	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
not provided		malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Tuberous sclerosis syndrome	germline	Detail
Pathogenic	2022-09-19	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-05-22	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline unknown	Detail
Pathogenic	2022-09-23	criteria provided, multiple submitters, no conflicts	Isolated focal cortical dysplasia type II,tuberous sclerosis 2,Lymphangiomyomatosis	germline unknown	Detail
Pathogenic	2022-09-23	criteria provided, multiple submitters, no conflicts	Isolated focal cortical dysplasia type II,tuberous sclerosis 2,Lymphangiomyomatosis	germline unknown	Detail
Pathogenic	2022-09-23	criteria provided, multiple submitters, no conflicts	Isolated focal cortical dysplasia type II,tuberous sclerosis 2,Lymphangiomyomatosis	germline unknown	Detail
Pathogenic	2023-05-08	criteria provided, single submitter	TSC2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.976-15G>A AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.976-15G>A AND TSC2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs45517150 dbSNP
Genome: hg19
Position: chr16:2,110,656-2,110,656
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser