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NM_000548.5(TSC2):c.1717-60_1840-201del 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:
RCV000042882.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1717-60_1840-201del]

NM_000548.5(TSC2):c.1717-60_1840-201del

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.1717-60_1840-201del
Other names:
p.(Thr573_Gln613del)
HGVS:
  • NC_000016.10:g.2070396_2071309del
  • NG_005895.1:g.26091_27004del
  • NM_000548.5:c.1717-60_1840-201delMANE SELECT
  • NM_001077183.3:c.1717-60_1840-201del
  • NM_001114382.3:c.1717-60_1840-201del
  • NM_001318827.2:c.1606-60_1729-201del
  • NM_001318829.2:c.1570-60_1693-201del
  • NM_001318831.2:c.1117-60_1240-201del
  • NM_001318832.2:c.1750-60_1873-201del
  • NM_001363528.2:c.1717-60_1840-201del
  • NM_001370404.1:c.1717-60_1840-201del
  • NM_001370405.1:c.1717-60_1840-201del
  • NM_021055.3:c.1717-60_1840-201del
  • LRG_487:g.26091_27004del
  • NC_000016.9:g.2120397_2121310del
Note:
In November, 2020, the description of this exon deletion was updated to conform to the publication by Longa et al. (2001) and the record in the TSC2 database (TSC2_000746).
Links:
Tuberous sclerosis database (TSC2): TSC2_000746; dbSNP: rs2088100689
NCBI 1000 Genomes Browser:
rs2088100689
Molecular consequence:
  • NM_000548.5:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001077183.3:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001114382.3:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318827.2:c.1606-60_1729-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318829.2:c.1570-60_1693-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318831.2:c.1117-60_1240-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318832.2:c.1750-60_1873-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363528.2:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370404.1:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370405.1:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_021055.3:c.1717-60_1840-201del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000548.5:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077183.3:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114382.3:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318827.2:c.1606-60_1729-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318829.2:c.1570-60_1693-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318831.2:c.1117-60_1240-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318832.2:c.1750-60_1873-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363528.2:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370404.1:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370405.1:c.1717-60_1840-201del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_021055.3:c.1717-60_1840-201del - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066678Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Longa L, Saluto A, Brusco A, Polidoro S, Padovan S, Allavena A, Carbonara C, Grosso E, Migone N.

Hum Genet. 2001 Feb;108(2):156-66.

PubMed [citation]
PMID:
11281455

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066678.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024