chr16:2138294:C>T 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	chr16:2,138,294-2,138,294
hg38	chr16:2,088,293-2,088,293 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318832.1:c.5059C>T	NP_001305761.1:p.Arg1687Trp
	NM_001318827.1:c.4918C>T	NP_001305756.1:p.Arg1640Trp
	NM_001318831.1:c.4918C>T	NP_001305760.1:p.Arg1640Trp
	NM_001114382.2:c.5158C>T	NP_001107854.1:p.Arg1720Trp
	NM_001318829.1:c.4882C>T	NP_001305758.1:p.Arg1628Trp
	NM_000548.4:c.5227C>T	NP_000539.2:p.Arg1743Trp
	NM_001077183.2:c.5026C>T	NP_001070651.1:p.Arg1676Trp
Ensemble	ENST00000645186.2:c.5317C>T	ENST00000645186.2:p.Arg1773Trp
	ENST00000568454.6:c.5059C>T	ENST00000568454.6:p.Arg1687Trp
	ENST00000643088.1:c.5020C>T	ENST00000643088.1:p.Arg1674Trp
	ENST00000642561.1:c.5086C>T	ENST00000642561.1:p.Arg1696Trp
	ENST00000644335.1:c.5023C>T	ENST00000644335.1:p.Arg1675Trp
	ENST00000642206.2:c.5074C>T	ENST00000642206.2:p.Arg1692Trp
	ENST00000643946.1:c.5152C>T	ENST00000643946.1:p.Arg1718Trp
	ENST00000439673.6:c.4918C>T	ENST00000439673.6:p.Arg1640Trp
	ENST00000646388.1:c.5221C>T	ENST00000646388.1:p.Arg1741Trp
	ENST00000642365.2:c.5224C>T	ENST00000642365.2:p.Arg1742Trp
	ENST00000350773.9:c.5158C>T	ENST00000350773.9:p.Arg1720Trp
	ENST00000642797.1:c.5029C>T	ENST00000642797.1:p.Arg1677Trp
	ENST00000382538.10:c.4882C>T	ENST00000382538.10:p.Arg1628Trp
	ENST00000219476.9:c.5227C>T	ENST00000219476.9:p.Arg1743Trp
	ENST00000642936.1:c.5095C>T	ENST00000642936.1:p.Arg1699Trp
	ENST00000401874.7:c.5026C>T	ENST00000401874.7:p.Arg1676Trp
	ENST00000644329.1:c.5113C>T	ENST00000644329.1:p.Arg1705Trp
	ENST00000644043.1:c.5098C>T	ENST00000644043.1:p.Arg1700Trp

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	COSM5740519	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	2022-11-09	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-09	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	de novo germline unknown	Detail
Pathogenic	2016-06-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	tuberous sclerosis 2,Lymphangiomyomatosis,Isolated focal cortical dysplasia type II	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	tuberous sclerosis 2,Lymphangiomyomatosis,Isolated focal cortical dysplasia type II	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	tuberous sclerosis 2,Lymphangiomyomatosis,Isolated focal cortical dysplasia type II	unknown	Detail
Pathogenic	2023-06-07	criteria provided, single submitter	TSC2-related disorder	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.5227C>T (p.Arg1743Trp) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) AND TSC2-related disorder	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: rs45517412 dbSNP
Genome: hg19
Position: chr16:2,138,294-2,138,294
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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