chr16:2080168:G> 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	chr16:2,130,169-2,130,169
hg38	chr16:2,080,168-2,080,168

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.3401delG	NP_000539.2:p.Gly1134AlafsTer57
	NM_001114382.2:c.3401delG	NP_001107854.1:p.Gly1134AlafsTer57
	NM_001318829.1:c.3125delG	NP_001305758.1:p.Gly1042AlafsTer57
	NM_001077183.2:c.3269delG	NP_001070651.1:p.Gly1090AlafsTer57
	NM_001318827.1:c.3161delG	NP_001305756.1:p.Gly1054AlafsTer57
	NM_001318831.1:c.3161delG	NP_001305760.1:p.Gly1054AlafsTer57
	NM_001318832.1:c.3302delG	NP_001305761.1:p.Gly1101AlafsTer57
Ensemble	ENST00000219476.9:c.3401delG	ENST00000219476.9:p.Gly1134AlafsTer57
	ENST00000350773.9:c.3401delG	ENST00000350773.9:p.Gly1134AlafsTer57
	ENST00000382538.10:c.3125delG	ENST00000382538.10:p.Gly1042AlafsTer57
	ENST00000401874.7:c.3269delG	ENST00000401874.7:p.Gly1090AlafsTer57
	ENST00000439673.6:c.3161delG	ENST00000439673.6:p.Gly1054AlafsTer57
	ENST00000568454.6:c.3302delG	ENST00000568454.6:p.Gly1101AlafsTer57
	ENST00000642206.2:c.3317delG	ENST00000642206.2:p.Gly1106AlafsTer57
	ENST00000642365.2:c.3398delG	ENST00000642365.2:p.Gly1133AlafsTer57
	ENST00000642561.1:c.3272delG	ENST00000642561.1:p.Gly1091AlafsTer57
	ENST00000642797.1:c.3272delG	ENST00000642797.1:p.Gly1091AlafsTer57
	ENST00000642936.1:c.3269delG	ENST00000642936.1:p.Gly1090AlafsTer57
	ENST00000643088.1:c.3269delG	ENST00000643088.1:p.Gly1090AlafsTer57
	ENST00000643946.1:c.3401delG	ENST00000643946.1:p.Gly1134AlafsTer57
	ENST00000644043.1:c.3272delG	ENST00000644043.1:p.Gly1091AlafsTer57
	ENST00000644329.1:c.3269delG	ENST00000644329.1:p.Gly1090AlafsTer57
	ENST00000644335.1:c.3272delG	ENST00000644335.1:p.Gly1091AlafsTer57
	ENST00000645186.2:c.3401delG	ENST00000645186.2:p.Gly1134AlafsTer57
	ENST00000646388.1:c.3401delG	ENST00000646388.1:p.Gly1134AlafsTer57

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	2013-06-18	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-11-07	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	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.3401del (p.Gly1134Alafs) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) AND Tuberous sclerosis 2	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: rs137854314 dbSNP
Genome: hg38
Position: chr16:2,080,168-2,080,168
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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