NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs) AND Tuberous sclerosis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001194676.1

Allele description [Variation Report for NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)]

NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)

HGVS:

NC_000016.10:g.2061884_2061887dup
NG_005895.1:g.17579_17582dup
NM_000548.5:c.1133_1136dupMANE SELECT
NM_001077183.3:c.1133_1136dup
NM_001114382.3:c.1133_1136dup
NM_001318827.2:c.1022_1025dup
NM_001318829.2:c.986_989dup
NM_001318831.2:c.533_536dup
NM_001318832.2:c.1166_1169dup
NM_001363528.2:c.1133_1136dup
NM_001370404.1:c.1133_1136dup
NM_001370405.1:c.1133_1136dup
NM_021055.3:c.1133_1136dup
NP_000539.2:p.Glu379fs
NP_001070651.1:p.Glu379fs
NP_001107854.1:p.Glu379fs
NP_001305756.1:p.Glu342fs
NP_001305758.1:p.Glu330fs
NP_001305760.1:p.Glu179fs
NP_001305761.1:p.Glu390fs
NP_001350457.1:p.Glu379fs
NP_001357333.1:p.Glu379fs
NP_001357334.1:p.Glu379fs
NP_066399.2:p.Glu379fs
LRG_487:g.17579_17582dup
NC_000016.9:g.2111885_2111888dup
NM_000548.5:c.1133_1136dupCGGAMANE SELECT

Protein change:

E179fs

Links:

dbSNP: rs2086680808

NCBI 1000 Genomes Browser:

rs2086680808

Molecular consequence:

NM_000548.5:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077183.3:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114382.3:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318827.2:c.1022_1025dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318829.2:c.986_989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318831.2:c.533_536dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318832.2:c.1166_1169dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363528.2:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370404.1:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370405.1:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021055.3:c.1133_1136dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Tuberous sclerosis 2 (TSC2)
Identifiers:: MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001364418	Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	no assertion criteria provided	Pathogenic (Jun 11, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001364418

Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

no assertion criteria provided

Pathogenic
(Jun 11, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Japanese	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, SCV001364418.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Japanese	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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