chr16:2121909:C> 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	chr16:2,121,909-2,121,909
hg38	chr16:2,071,908-2,071,908

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001114382.2:c.2071delC	NP_001107854.1:p.Arg691AlafsTer7
	NM_001318829.1:c.1924delC	NP_001305758.1:p.Arg642AlafsTer7
	NM_001318827.1:c.1960delC	NP_001305756.1:p.Arg654AlafsTer7
	NM_001318831.1:c.1960delC	NP_001305760.1:p.Arg654AlafsTer7
	NM_001318832.1:c.2104delC	NP_001305761.1:p.Arg702AlafsTer7
	NM_001077183.2:c.2071delC	NP_001070651.1:p.Arg691AlafsTer7
	NM_000548.4:c.2071delC	NP_000539.2:p.Arg691AlafsTer7
Ensemble	ENST00000350773.9:c.2071delC	ENST00000350773.9:p.Arg691AlafsTer7
	ENST00000642797.1:c.2071delC	ENST00000642797.1:p.Arg691AlafsTer7
	ENST00000644043.1:c.2071delC	ENST00000644043.1:p.Arg691AlafsTer7
	ENST00000382538.10:c.1924delC	ENST00000382538.10:p.Arg642AlafsTer7
	ENST00000439673.6:c.1960delC	ENST00000439673.6:p.Arg654AlafsTer7
	ENST00000646388.1:c.2071delC	ENST00000646388.1:p.Arg691AlafsTer7
	ENST00000642365.2:c.2071delC	ENST00000642365.2:p.Arg691AlafsTer7
	ENST00000568454.6:c.2104delC	ENST00000568454.6:p.Arg702AlafsTer7
	ENST00000644329.1:c.2071delC	ENST00000644329.1:p.Arg691AlafsTer7
	ENST00000401874.7:c.2071delC	ENST00000401874.7:p.Arg691AlafsTer7
	ENST00000643088.1:c.2071delC	ENST00000643088.1:p.Arg691AlafsTer7
	ENST00000642561.1:c.2071delC	ENST00000642561.1:p.Arg691AlafsTer7
	ENST00000643946.1:c.2071delC	ENST00000643946.1:p.Arg691AlafsTer7
	ENST00000644335.1:c.2071delC	ENST00000644335.1:p.Arg691AlafsTer7
	ENST00000642206.2:c.2116delC	ENST00000642206.2:p.Arg706AlafsTer7
	ENST00000219476.9:c.2071delC	ENST00000219476.9:p.Arg691AlafsTer7
	ENST00000642936.1:c.2071delC	ENST00000642936.1:p.Arg691AlafsTer7
	ENST00000645186.2:c.2071delC	ENST00000645186.2:p.Arg691AlafsTer7

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
not provided		no assertion provided	Tuberous sclerosis syndrome	germline	Detail
Pathogenic	2018-03-05	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-11-12	criteria provided, single submitter	tuberous sclerosis 2	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.2071del (p.Arg691fs) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.2071del (p.Arg691fs) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.2071del (p.Arg691fs) AND Tuberous sclerosis 2	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: rs137854071 dbSNP
Genome: hg19
Position: chr16:2,121,909-2,121,909
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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