chr16:2080299:C>T Detail (hg38) (TSC2)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr16:2,130,300-2,130,300 View the variant detail on this assembly version.
hg38	chr16:2,080,299-2,080,299

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.3532C>T	NP_000539.2:p.Gln1178Ter
	NM_001114382.2:c.3532C>T	NP_001107854.1:p.Gln1178Ter
	NM_001318829.1:c.3256C>T	NP_001305758.1:p.Gln1086Ter
	NM_001077183.2:c.3400C>T	NP_001070651.1:p.Gln1134Ter
	NM_001318827.1:c.3292C>T	NP_001305756.1:p.Gln1098Ter
	NM_001318831.1:c.3292C>T	NP_001305760.1:p.Gln1098Ter
	NM_001318832.1:c.3433C>T	NP_001305761.1:p.Gln1145Ter
Ensemble	ENST00000219476.9:c.3532C>T	ENST00000219476.9:p.Gln1178Ter
	ENST00000350773.9:c.3532C>T	ENST00000350773.9:p.Gln1178Ter
	ENST00000382538.10:c.3256C>T	ENST00000382538.10:p.Gln1086Ter
	ENST00000401874.7:c.3400C>T	ENST00000401874.7:p.Gln1134Ter
	ENST00000439673.6:c.3292C>T	ENST00000439673.6:p.Gln1098Ter
	ENST00000568454.6:c.3433C>T	ENST00000568454.6:p.Gln1145Ter
	ENST00000642206.2:c.3448C>T	ENST00000642206.2:p.Gln1150Ter
	ENST00000642365.2:c.3529C>T	ENST00000642365.2:p.Gln1177Ter
	ENST00000642561.1:c.3403C>T	ENST00000642561.1:p.Gln1135Ter
	ENST00000642797.1:c.3403C>T	ENST00000642797.1:p.Gln1135Ter
	ENST00000642936.1:c.3400C>T	ENST00000642936.1:p.Gln1134Ter
	ENST00000643088.1:c.3400C>T	ENST00000643088.1:p.Gln1134Ter
	ENST00000643946.1:c.3532C>T	ENST00000643946.1:p.Gln1178Ter
	ENST00000644043.1:c.3403C>T	ENST00000644043.1:p.Gln1135Ter
	ENST00000644329.1:c.3400C>T	ENST00000644329.1:p.Gln1134Ter
	ENST00000644335.1:c.3403C>T	ENST00000644335.1:p.Gln1135Ter
	ENST00000645186.2:c.3532C>T	ENST00000645186.2:p.Gln1178Ter
	ENST00000646388.1:c.3532C>T	ENST00000646388.1:p.Gln1178Ter

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	COSM4440414	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	2017-02-03	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-11-23	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
thyroid gland carcinoma	Everolimus	C	Predictive	Supports	Sensitivity/Response	Somatic	5	25295501	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene T...	CIViC Evidence	Detail
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND Tuberous sclerosis 2	ClinVar	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: rs45517297 dbSNP
Genome: hg38
Position: chr16:2,080,299-2,080,299
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): Q1178*
Transcript 1 (CIViC Variant): ENST00000219476.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/469

Genome browser