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NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) 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:
RCV000042358.3

Allele description [Variation Report for NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)]

NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
HGVS:
  • NC_000009.12:g.132912447del
  • NG_012386.1:g.37188del
  • NM_000368.4:c.749del
  • NM_000368.5:c.749delMANE SELECT
  • NM_001162426.2:c.749del
  • NM_001162427.2:c.596del
  • NM_001362177.2:c.386del
  • NP_000359.1:p.Arg249_Leu250insTer
  • NP_001155898.1:p.Arg249_Leu250insTer
  • NP_001155899.1:p.Arg198_Leu199insTer
  • NP_001349106.1:p.Arg128_Leu129insTer
  • LRG_486t1:c.749del
  • LRG_486:g.37188del
  • NC_000009.11:g.135787834del
  • NM_000368.3:c.749delT
  • NM_000368.4:c.749delT
  • p.(Leu250*)
Links:
Tuberous sclerosis database (TSC1): TSC1_00403; dbSNP: rs118203445
NCBI 1000 Genomes Browser:
rs118203445
Molecular consequence:
  • NM_000368.5:c.749del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162426.2:c.749del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162427.2:c.596del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362177.2:c.386del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000066147Tuberous sclerosis database (TSC1)
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

Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.

Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, Yusoff S, Harahap IS, Lee MJ, Matsuo M, Nishio H.

Kobe J Med Sci. 2008 May 23;54(1):E73-81.

PubMed [citation]
PMID:
18772611

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000066147.3

#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