chr16:2106243:G>A Detail (hg19) (TSC2)

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

Genome

Assembly	Position
hg19	chr16:2,106,243-2,106,243
hg38	chr16:2,056,242-2,056,242 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001077183.2:c.646G>A	NP_001070651.1:p.Glu216Lys
	NM_001318832.1:c.679G>A	NP_001305761.1:p.Glu227Lys
	NM_000548.4:c.646G>A	NP_000539.2:p.Glu216Lys
	NM_001114382.2:c.646G>A	NP_001107854.1:p.Glu216Lys
	NM_001318829.1:c.499G>A	NP_001305758.1:p.Glu167Lys
	NM_001318827.1:c.535G>A	NP_001305756.1:p.Glu179Lys
	NM_001318831.1:c.535G>A	NP_001305760.1:p.Glu179Lys
Ensemble	ENST00000401874.7:c.646G>A	ENST00000401874.7:p.Glu216Lys
	ENST00000643088.1:c.646G>A	ENST00000643088.1:p.Glu216Lys
	ENST00000642561.1:c.646G>A	ENST00000642561.1:p.Glu216Lys
	ENST00000644329.1:c.646G>A	ENST00000644329.1:p.Glu216Lys
	ENST00000568454.6:c.679G>A	ENST00000568454.6:p.Glu227Lys
	ENST00000644335.1:c.646G>A	ENST00000644335.1:p.Glu216Lys
	ENST00000642206.2:c.691G>A	ENST00000642206.2:p.Glu231Lys
	ENST00000643946.1:c.646G>A	ENST00000643946.1:p.Glu216Lys
	ENST00000642936.1:c.646G>A	ENST00000642936.1:p.Glu216Lys
	ENST00000219476.9:c.646G>A	ENST00000219476.9:p.Glu216Lys
	ENST00000645186.2:c.646G>A	ENST00000645186.2:p.Glu216Lys
	ENST00000642797.1:c.646G>A	ENST00000642797.1:p.Glu216Lys
	ENST00000350773.9:c.646G>A	ENST00000350773.9:p.Glu216Lys
	ENST00000382538.10:c.499G>A	ENST00000382538.10:p.Glu167Lys
	ENST00000644043.1:c.646G>A	ENST00000644043.1:p.Glu216Lys
	ENST00000439673.6:c.535G>A	ENST00000439673.6:p.Glu179Lys
	ENST00000642365.2:c.646G>A	ENST00000642365.2:p.Glu216Lys
	ENST00000646388.1:c.646G>A	ENST00000646388.1:p.Glu216Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-10-02	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis syndrome	germline	Detail
Uncertain significance	2023-08-24	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline	Detail
Uncertain significance	2019-09-29	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2021-12-27	criteria provided, single submitter	Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II	unknown	Detail
Uncertain significance	2021-12-27	criteria provided, single submitter	Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II	unknown	Detail
Uncertain significance	2021-12-27	criteria provided, single submitter	Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II	unknown	Detail
Uncertain significance	2023-09-25	criteria provided, single submitter	Isolated focal cortical dysplasia type II	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	TUBEROUS SCLEROSIS 2 (disorder)	NA	CLINVAR		Detail
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) AND Isolated focal cortical dysplasia type II	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: rs45517118 dbSNP
Genome: hg19
Position: chr16:2,106,243-2,106,243
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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