chr16:2080365:C>T 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	chr16:2,130,366-2,130,366 View the variant detail on this assembly version.
hg38	chr16:2,080,365-2,080,365

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.3598C>T	NP_000539.2:p.Arg1200Trp
	NM_001114382.2:c.3598C>T	NP_001107854.1:p.Arg1200Trp
	NM_001318829.1:c.3322C>T	NP_001305758.1:p.Arg1108Trp
	NM_001077183.2:c.3466C>T	NP_001070651.1:p.Arg1156Trp
	NM_001318827.1:c.3358C>T	NP_001305756.1:p.Arg1120Trp
	NM_001318831.1:c.3358C>T	NP_001305760.1:p.Arg1120Trp
	NM_001318832.1:c.3499C>T	NP_001305761.1:p.Arg1167Trp
Ensemble	ENST00000219476.9:c.3598C>T	ENST00000219476.9:p.Arg1200Trp
	ENST00000350773.9:c.3598C>T	ENST00000350773.9:p.Arg1200Trp
	ENST00000382538.10:c.3322C>T	ENST00000382538.10:p.Arg1108Trp
	ENST00000401874.7:c.3466C>T	ENST00000401874.7:p.Arg1156Trp
	ENST00000439673.6:c.3358C>T	ENST00000439673.6:p.Arg1120Trp
	ENST00000568454.6:c.3499C>T	ENST00000568454.6:p.Arg1167Trp
	ENST00000642206.2:c.3514C>T	ENST00000642206.2:p.Arg1172Trp
	ENST00000642365.2:c.3595C>T	ENST00000642365.2:p.Arg1199Trp
	ENST00000642561.1:c.3469C>T	ENST00000642561.1:p.Arg1157Trp
	ENST00000642797.1:c.3469C>T	ENST00000642797.1:p.Arg1157Trp
	ENST00000642936.1:c.3466C>T	ENST00000642936.1:p.Arg1156Trp
	ENST00000643088.1:c.3466C>T	ENST00000643088.1:p.Arg1156Trp
	ENST00000643946.1:c.3598C>T	ENST00000643946.1:p.Arg1200Trp
	ENST00000644043.1:c.3469C>T	ENST00000644043.1:p.Arg1157Trp
	ENST00000644329.1:c.3466C>T	ENST00000644329.1:p.Arg1156Trp
	ENST00000644335.1:c.3469C>T	ENST00000644335.1:p.Arg1157Trp
	ENST00000645186.2:c.3598C>T	ENST00000645186.2:p.Arg1200Trp
	ENST00000646388.1:c.3598C>T	ENST00000646388.1:p.Arg1200Trp

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
Pathogenic	2022-05-25	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis syndrome	germline	Detail
Pathogenic	2023-04-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-02-21	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline unknown	Detail
Pathogenic	2021-04-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-02-01	criteria provided, single submitter	Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2	unknown	Detail
Pathogenic	2022-02-01	criteria provided, single submitter	Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2	unknown	Detail
Pathogenic	2022-02-01	criteria provided, single submitter	Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2	unknown	Detail
Pathogenic	2023-10-25	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
0.494	tuberous sclerosis	Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutatio...	BeFree	21332470	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions	ClinVar	Detail
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND TSC2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates...	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: rs45438205 dbSNP
Genome: hg38
Position: chr16:2,080,365-2,080,365
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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