NM_000548.5(TSC2):c.2639+1dup AND Tuberous sclerosis syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000042836.3

Allele description [Variation Report for NM_000548.5(TSC2):c.2639+1dup]

NM_000548.5(TSC2):c.2639+1dup

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.2639+1dup

HGVS:

NC_000016.10:g.2075893dup
NG_005895.1:g.31588dup
NM_000548.5:c.2639+1dupMANE SELECT
NM_001077183.3:c.2639+1dup
NM_001114382.3:c.2639+1dup
NM_001318827.2:c.2528+1dup
NM_001318829.2:c.2492+1dup
NM_001318831.2:c.2039+1dup
NM_001318832.2:c.2672+1dup
NM_001363528.2:c.2639+1dup
NM_001370404.1:c.2639+1dup
NM_001370405.1:c.2639+1dup
NM_001406663.1:c.2639+1dup
NM_001406664.1:c.2639+1dup
NM_001406665.1:c.2639+1dup
NM_001406667.1:c.2729+1dup
NM_001406668.1:c.2729+1dup
NM_001406670.1:c.2528+1dup
NM_001406671.1:c.2627+1dup
NM_001406673.1:c.2627+1dup
NM_001406675.1:c.2492+1dup
NM_001406676.1:c.2492+1dup
NM_001406677.1:c.2582+1dup
NM_001406678.1:c.2528+1dup
NM_001406679.1:c.2492+1dup
NM_001406680.1:c.2039+1dup
NM_001406681.1:c.2177+1dup
NM_001406682.1:c.2039+1dup
NM_001406683.1:c.2039+1dup
NM_001406684.1:c.2039+1dup
NM_001406685.1:c.2039+1dup
NM_001406686.1:c.2039+1dup
NM_001406687.1:c.2039+1dup
NM_001406688.1:c.2039+1dup
NM_001406689.1:c.1295+1dup
NM_001406690.1:c.1295+1dup
NM_001406691.1:c.1295+1dup
NM_001406692.1:c.1295+1dup
NM_001406693.1:c.1295+1dup
NM_001406694.1:c.1295+1dup
NM_001406695.1:c.1295+1dup
NM_001406696.1:c.1295+1dup
NM_001406697.1:c.1295+1dup
NM_001406698.1:c.1037+1dup
NM_021055.3:c.2639+1dup
LRG_487t1:c.2639+1dup
LRG_487:g.31588dup
NC_000016.9:g.2125894dup
NM_000548.3:c.2639+1dup
NM_000548.3:c.2639+1dupG
p.?

Links:

Tuberous sclerosis database (TSC2): TSC2_00476; dbSNP: rs137854394

NCBI 1000 Genomes Browser:

rs137854394

Molecular consequence:

NM_000548.5:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001077183.3:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001114382.3:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318827.2:c.2528+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318829.2:c.2492+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318831.2:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318832.2:c.2672+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001363528.2:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370404.1:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370405.1:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406663.1:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406664.1:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406665.1:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406667.1:c.2729+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406668.1:c.2729+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406670.1:c.2528+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406671.1:c.2627+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406673.1:c.2627+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406675.1:c.2492+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406676.1:c.2492+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406677.1:c.2582+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406678.1:c.2528+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406679.1:c.2492+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406680.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406681.1:c.2177+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406682.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406683.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406684.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406685.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406686.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406687.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406688.1:c.2039+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406689.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406690.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406691.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406692.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406693.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406694.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406695.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406696.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406697.1:c.1295+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406698.1:c.1037+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_021055.3:c.2639+1dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Tuberous sclerosis syndrome (TSC)
Synonyms:: Tuberous sclerosis
Identifiers:: MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

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cytochrome c oxidase subunit 7C, mitochondrial precursor [Homo sapiens]
cytochrome c oxidase subunit 7C, mitochondrial precursor [Homo sapiens]
gi|4502993|ref|NP_001858.1|

Protein
RecName: Full=Beta-arrestin-1; AltName: Full=Arrestin beta-1
RecName: Full=Beta-arrestin-1; AltName: Full=Arrestin beta-1
gi|59797945|sp|Q8BWG8.1|ARRB1_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000066632	Tuberous sclerosis database (TSC2)	no classification provided (Tuberous Sclerosis Database Assertion Criteria 2015)	not provided	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000066632

Tuberous sclerosis database (TSC2)

no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)

not provided

germline

curation

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066632.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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