chr16:2088318:GCCAGCGGGTAGGGAATATGGGGCTCC> Detail (hg38) (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	chr16:2,138,319-2,138,345
hg38	chr16:2,088,318-2,088,344

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.5252_5259+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_000539.2:p.Arg1751HisfsTer21
	NM_001114382.2:c.5183_5190+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001107854.1:p.Arg1728HisfsTer21
	NM_001318829.1:c.4907_4914+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001305758.1:p.Arg1636HisfsTer21
	NM_001077183.2:c.5051_5058+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001070651.1:p.Arg1684HisfsTer21
	NM_001318827.1:c.4943_4950+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001305756.1:p.Arg1648HisfsTer21
	NM_001318831.1:c.4943_4950+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001305760.1:p.Arg1648HisfsTer21
	NM_001318832.1:c.5084_5091+19delGCCAGCGGGTAGGGAATATGGGGCTCC	NP_001305761.1:p.Arg1695HisfsTer21
Ensemble	ENST00000219476.9:c.5252_5259+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000219476.9:p.Arg1751HisfsTer21
	ENST00000350773.9:c.5183_5190+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000350773.9:p.Arg1728HisfsTer21
	ENST00000382538.10:c.4907_4914+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000382538.10:p.Arg1636HisfsTer21
	ENST00000401874.7:c.5051_5058+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000401874.7:p.Arg1684HisfsTer21
	ENST00000439673.6:c.4943_4950+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000439673.6:p.Arg1648HisfsTer21
	ENST00000568454.6:c.5084_5091+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000568454.6:p.Arg1695HisfsTer21
	ENST00000642206.2:c.5099_5106+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000642206.2:p.Arg1700HisfsTer21
	ENST00000642365.2:c.5249_5256+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000642365.2:p.Arg1750HisfsTer21
	ENST00000642561.1:c.5111_5118+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000642561.1:p.Arg1704HisfsTer21
	ENST00000642797.1:c.5054_5061+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000642797.1:p.Arg1685HisfsTer21
	ENST00000642936.1:c.5120_5127+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000642936.1:p.Arg1707HisfsTer21
	ENST00000643088.1:c.5045_5052+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000643088.1:p.Arg1682HisfsTer21
	ENST00000643946.1:c.5177_5184+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000643946.1:p.Arg1726HisfsTer21
	ENST00000644043.1:c.5123_5130+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000644043.1:p.Arg1708HisfsTer21
	ENST00000644329.1:c.5138_5145+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000644329.1:p.Arg1713HisfsTer21
	ENST00000644335.1:c.5048_5055+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000644335.1:p.Arg1683HisfsTer21
	ENST00000645186.2:c.5342_5349+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000645186.2:p.Arg1781HisfsTer21
	ENST00000646388.1:c.5246_5253+19delGCCAGCGGGTAGGGAATATGGGGCTCC	ENST00000646388.1:p.Arg1749HisfsTer21

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

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	2023-10-16	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline	Detail
Pathogenic	2020-04-27	criteria provided, single submitter	not provided	germline	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.5252_5259+19del AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5252_5259+19del AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.5252_5259+19del AND not provided	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: rs137854397 dbSNP
Genome: hg38
Position: chr16:2,088,318-2,088,344
Variant Type: snv
Reference Allele: GCCAGCGGGTAGGGAATATGGGGCTCC
Alternative Allele: -

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