chr16:2107157:AT> 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	chr16:2,107,157-2,107,158
hg38	chr16:2,057,156-2,057,157

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318827.1:c.715_716delAT	NP_001305756.1:p.Met239ValfsTer61
	NM_001318831.1:c.715_716delAT	NP_001305760.1:p.Met239ValfsTer61
	NM_001114382.2:c.826_827delAT	NP_001107854.1:p.Met276ValfsTer61
	NM_001318829.1:c.679_680delAT	NP_001305758.1:p.Met227ValfsTer61
	NM_000548.4:c.826_827delAT	NP_000539.2:p.Met276ValfsTer61
	NM_001318832.1:c.859_860delAT	NP_001305761.1:p.Met287ValfsTer61
	NM_001077183.2:c.826_827delAT	NP_001070651.1:p.Met276ValfsTer61
Ensemble	ENST00000439673.6:c.715_716delAT	ENST00000439673.6:p.Met239ValfsTer61
	ENST00000646388.1:c.826_827delAT	ENST00000646388.1:p.Met276ValfsTer61
	ENST00000642365.2:c.826_827delAT	ENST00000642365.2:p.Met276ValfsTer61
	ENST00000350773.9:c.826_827delAT	ENST00000350773.9:p.Met276ValfsTer61
	ENST00000642797.1:c.826_827delAT	ENST00000642797.1:p.Met276ValfsTer61
	ENST00000382538.10:c.679_680delAT	ENST00000382538.10:p.Met227ValfsTer61
	ENST00000644043.1:c.826_827delAT	ENST00000644043.1:p.Met276ValfsTer61
	ENST00000219476.9:c.826_827delAT	ENST00000219476.9:p.Met276ValfsTer61
	ENST00000642936.1:c.826_827delAT	ENST00000642936.1:p.Met276ValfsTer61
	ENST00000645186.2:c.826_827delAT	ENST00000645186.2:p.Met276ValfsTer61
	ENST00000568454.6:c.859_860delAT	ENST00000568454.6:p.Met287ValfsTer61
	ENST00000643088.1:c.826_827delAT	ENST00000643088.1:p.Met276ValfsTer61
	ENST00000401874.7:c.826_827delAT	ENST00000401874.7:p.Met276ValfsTer61
	ENST00000642561.1:c.826_827delAT	ENST00000642561.1:p.Met276ValfsTer61
	ENST00000644329.1:c.826_827delAT	ENST00000644329.1:p.Met276ValfsTer61
	ENST00000644335.1:c.826_827delAT	ENST00000644335.1:p.Met276ValfsTer61
	ENST00000642206.2:c.871_872delAT	ENST00000642206.2:p.Met291ValfsTer61
	ENST00000643946.1:c.826_827delAT	ENST00000643946.1:p.Met276ValfsTer61

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	2023-12-22	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	de novo germline	Detail
Pathogenic	2022-07-01	criteria provided, multiple submitters, no conflicts	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.826_827del (p.Met276fs) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.826_827del (p.Met276fs) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.826_827del (p.Met276fs) 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: rs137853977 dbSNP
Genome: hg19
Position: chr16:2,107,157-2,107,158
Variant Type: snv
Reference Allele: AT
Alternative Allele: -

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