chr16:2079160:G>A Detail (hg38) (TSC2)

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

Information

Genome

Assembly	Position
hg19	chr16:2,129,161-2,129,161 View the variant detail on this assembly version.
hg38	chr16:2,079,160-2,079,160

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.3095G>A	NP_000539.2:p.Arg1032Gln
	NM_001114382.2:c.3095G>A	NP_001107854.1:p.Arg1032Gln
	NM_001318829.1:c.2819G>A	NP_001305758.1:p.Arg940Gln
	NM_001077183.2:c.2963G>A	NP_001070651.1:p.Arg988Gln
	NM_001318827.1:c.2855G>A	NP_001305756.1:p.Arg952Gln
	NM_001318831.1:c.2855G>A	NP_001305760.1:p.Arg952Gln
	NM_001318832.1:c.2996G>A	NP_001305761.1:p.Arg999Gln
Ensemble	ENST00000219476.9:c.3095G>A	ENST00000219476.9:p.Arg1032Gln
	ENST00000350773.9:c.3095G>A	ENST00000350773.9:p.Arg1032Gln
	ENST00000382538.10:c.2819G>A	ENST00000382538.10:p.Arg940Gln
	ENST00000401874.7:c.2963G>A	ENST00000401874.7:p.Arg988Gln
	ENST00000439673.6:c.2855G>A	ENST00000439673.6:p.Arg952Gln
	ENST00000568454.6:c.2996G>A	ENST00000568454.6:p.Arg999Gln
	ENST00000642206.2:c.3011G>A	ENST00000642206.2:p.Arg1004Gln
	ENST00000642365.2:c.3092G>A	ENST00000642365.2:p.Arg1031Gln
	ENST00000642561.1:c.2966G>A	ENST00000642561.1:p.Arg989Gln
	ENST00000642797.1:c.2966G>A	ENST00000642797.1:p.Arg989Gln
	ENST00000642936.1:c.2963G>A	ENST00000642936.1:p.Arg988Gln
	ENST00000643088.1:c.2963G>A	ENST00000643088.1:p.Arg988Gln
	ENST00000643946.1:c.3095G>A	ENST00000643946.1:p.Arg1032Gln
	ENST00000644043.1:c.2966G>A	ENST00000644043.1:p.Arg989Gln
	ENST00000644329.1:c.2963G>A	ENST00000644329.1:p.Arg988Gln
	ENST00000644335.1:c.2966G>A	ENST00000644335.1:p.Arg989Gln
	ENST00000645186.2:c.3095G>A	ENST00000645186.2:p.Arg1032Gln
	ENST00000646388.1:c.3095G>A	ENST00000646388.1:p.Arg1032Gln

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	Uncertain significance
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	COSM6810223	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-01-10	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline	Detail
Uncertain significance	2024-02-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.3095G>A (p.Arg1032Gln) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln) AND Hereditary cancer-predisposing syndrome	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: rs45491698 dbSNP
Genome: hg38
Position: chr16:2,079,160-2,079,160
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8628
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): 120232
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.317253310266817E-6

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