chr16:2085233:C>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	chr16:2,135,234-2,135,234 View the variant detail on this assembly version.
hg38	chr16:2,085,233-2,085,233

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4573C>A	NP_000539.2:p.Gln1525Lys
	NM_001114382.2:c.4504C>A	NP_001107854.1:p.Gln1502Lys
	NM_001318829.1:c.4228C>A	NP_001305758.1:p.Gln1410Lys
	NM_001077183.2:c.4372C>A	NP_001070651.1:p.Gln1458Lys
	NM_001318827.1:c.4264C>A	NP_001305756.1:p.Gln1422Lys
	NM_001318831.1:c.4264C>A	NP_001305760.1:p.Gln1422Lys
	NM_001318832.1:c.4405C>A	NP_001305761.1:p.Gln1469Lys
Ensemble	ENST00000219476.9:c.4573C>A	ENST00000219476.9:p.Gln1525Lys
	ENST00000350773.9:c.4504C>A	ENST00000350773.9:p.Gln1502Lys
	ENST00000382538.10:c.4228C>A	ENST00000382538.10:p.Gln1410Lys
	ENST00000401874.7:c.4372C>A	ENST00000401874.7:p.Gln1458Lys
	ENST00000439673.6:c.4264C>A	ENST00000439673.6:p.Gln1422Lys
	ENST00000568454.6:c.4405C>A	ENST00000568454.6:p.Gln1469Lys
	ENST00000642206.2:c.4420C>A	ENST00000642206.2:p.Gln1474Lys
	ENST00000642365.2:c.4570C>A	ENST00000642365.2:p.Gln1524Lys
	ENST00000642561.1:c.4444C>A	ENST00000642561.1:p.Gln1482Lys
	ENST00000642797.1:c.4375C>A	ENST00000642797.1:p.Gln1459Lys
	ENST00000642936.1:c.4441C>A	ENST00000642936.1:p.Gln1481Lys
	ENST00000643088.1:c.4369-3C>A
	ENST00000643946.1:c.4501-3C>A
	ENST00000644043.1:c.4444C>A	ENST00000644043.1:p.Gln1482Lys
	ENST00000644329.1:c.4372C>A	ENST00000644329.1:p.Gln1458Lys
	ENST00000644335.1:c.4372-3C>A
	ENST00000645186.2:c.4663C>A	ENST00000645186.2:p.Gln1555Lys
	ENST00000646388.1:c.4570-3C>A

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	tgv393642416	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-12-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	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: -
Genome: hg38
Position: chr16:2,085,233-2,085,233
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8612
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): 119572
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): 8.36316194426789E-6

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