chr16:2084965:A>C 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	chr16:2,134,966-2,134,966 View the variant detail on this assembly version.
hg38	chr16:2,084,965-2,084,965

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4508A>C	NP_000539.2:p.Gln1503Pro
	NM_001114382.2:c.4439A>C	NP_001107854.1:p.Gln1480Pro
	NM_001318829.1:c.4163A>C	NP_001305758.1:p.Gln1388Pro
	NM_001077183.2:c.4307A>C	NP_001070651.1:p.Gln1436Pro
	NM_001318827.1:c.4199A>C	NP_001305756.1:p.Gln1400Pro
	NM_001318831.1:c.4199A>C	NP_001305760.1:p.Gln1400Pro
	NM_001318832.1:c.4340A>C	NP_001305761.1:p.Gln1447Pro
Ensemble	ENST00000219476.9:c.4508A>C	ENST00000219476.9:p.Gln1503Pro
	ENST00000350773.9:c.4439A>C	ENST00000350773.9:p.Gln1480Pro
	ENST00000382538.10:c.4163A>C	ENST00000382538.10:p.Gln1388Pro
	ENST00000401874.7:c.4307A>C	ENST00000401874.7:p.Gln1436Pro
	ENST00000439673.6:c.4199A>C	ENST00000439673.6:p.Gln1400Pro
	ENST00000568454.6:c.4340A>C	ENST00000568454.6:p.Gln1447Pro
	ENST00000642206.2:c.4355A>C	ENST00000642206.2:p.Gln1452Pro
	ENST00000642365.2:c.4505A>C	ENST00000642365.2:p.Gln1502Pro
	ENST00000642561.1:c.4379A>C	ENST00000642561.1:p.Gln1460Pro
	ENST00000642797.1:c.4310A>C	ENST00000642797.1:p.Gln1437Pro
	ENST00000642936.1:c.4376A>C	ENST00000642936.1:p.Gln1459Pro
	ENST00000643088.1:c.4307A>C	ENST00000643088.1:p.Gln1436Pro
	ENST00000643946.1:c.4439A>C	ENST00000643946.1:p.Gln1480Pro
	ENST00000644043.1:c.4379A>C	ENST00000644043.1:p.Gln1460Pro
	ENST00000644329.1:c.4307A>C	ENST00000644329.1:p.Gln1436Pro
	ENST00000644335.1:c.4310A>C	ENST00000644335.1:p.Gln1437Pro
	ENST00000645186.2:c.4598A>C	ENST00000645186.2:p.Gln1533Pro
	ENST00000646388.1:c.4508A>C	ENST00000646388.1:p.Gln1503Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-03-07	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline unknown	Detail
Pathogenic Likely pathogenic	2019-12-03	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis syndrome	germline	Detail
Pathogenic	2023-05-02	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2016-08-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-02	criteria provided, single submitter	Isolated focal cortical dysplasia type II	unknown	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.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) AND Isolated focal cortical dysplasia type II	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: rs45516293 dbSNP
Genome: hg38
Position: chr16:2,084,965-2,084,965
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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