chr16:2060790:G>A Detail (hg38) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,110,791-2,110,791 View the variant detail on this assembly version.
hg38	chr16:2,060,790-2,060,790

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.1096G>A	NP_000539.2:p.Glu366Lys
	NM_001114382.2:c.1096G>A	NP_001107854.1:p.Glu366Lys
	NM_001318829.1:c.949G>A	NP_001305758.1:p.Glu317Lys
	NM_001077183.2:c.1096G>A	NP_001070651.1:p.Glu366Lys
	NM_001318827.1:c.985G>A	NP_001305756.1:p.Glu329Lys
	NM_001318831.1:c.985G>A	NP_001305760.1:p.Glu329Lys
	NM_001318832.1:c.1129G>A	NP_001305761.1:p.Glu377Lys
Ensemble	ENST00000219476.9:c.1096G>A	ENST00000219476.9:p.Glu366Lys
	ENST00000350773.9:c.1096G>A	ENST00000350773.9:p.Glu366Lys
	ENST00000382538.10:c.949G>A	ENST00000382538.10:p.Glu317Lys
	ENST00000401874.7:c.1096G>A	ENST00000401874.7:p.Glu366Lys
	ENST00000439673.6:c.985G>A	ENST00000439673.6:p.Glu329Lys
	ENST00000568454.6:c.1129G>A	ENST00000568454.6:p.Glu377Lys
	ENST00000642206.2:c.1141G>A	ENST00000642206.2:p.Glu381Lys
	ENST00000642365.2:c.1096G>A	ENST00000642365.2:p.Glu366Lys
	ENST00000642561.1:c.1096G>A	ENST00000642561.1:p.Glu366Lys
	ENST00000642797.1:c.1096G>A	ENST00000642797.1:p.Glu366Lys
	ENST00000642936.1:c.1096G>A	ENST00000642936.1:p.Glu366Lys
	ENST00000643088.1:c.1096G>A	ENST00000643088.1:p.Glu366Lys
	ENST00000643946.1:c.1096G>A	ENST00000643946.1:p.Glu366Lys
	ENST00000644043.1:c.1096G>A	ENST00000644043.1:p.Glu366Lys
	ENST00000644329.1:c.1096G>A	ENST00000644329.1:p.Glu366Lys
	ENST00000644335.1:c.1096G>A	ENST00000644335.1:p.Glu366Lys
	ENST00000645186.2:c.1096G>A	ENST00000645186.2:p.Glu366Lys
	ENST00000646388.1:c.1096G>A	ENST00000646388.1:p.Glu366Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	tgv54379484	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-01-25	criteria provided, conflicting interpretations	tuberous sclerosis 2	germline	Detail
Uncertain significance	2022-02-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-11	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis syndrome	germline	Detail
Likely benign	2021-02-07	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.494	tuberous sclerosis	NA	CLINVAR		Detail
0.577	lymphangioleiomyomatosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) 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: rs45517148 dbSNP
Genome: hg38
Position: chr16:2,060,790-2,060,790
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8632
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120486
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4899158408445795E-5

Genome browser