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NM_000368.5(TSC1):c.654dup (p.Val219fs) 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:
RCV000042328.3

Allele description [Variation Report for NM_000368.5(TSC1):c.654dup (p.Val219fs)]

NM_000368.5(TSC1):c.654dup (p.Val219fs)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.654dup (p.Val219fs)
HGVS:
  • NC_000009.12:g.132921829dup
  • NG_012386.1:g.27806dup
  • NM_000368.5:c.654dupMANE SELECT
  • NM_001162426.2:c.654dup
  • NM_001162427.2:c.501dup
  • NM_001362177.2:c.291dup
  • NP_000359.1:p.Val219fs
  • NP_001155898.1:p.Val219fs
  • NP_001155899.1:p.Val168fs
  • NP_001349106.1:p.Val98fs
  • LRG_486:g.27806dup
  • NC_000009.11:g.135797216dup
  • NM_000368.3:c.654dupA
  • NM_000368.4:c.654dupA
  • p.(Val219Serfs*23)
Protein change:
V168fs
Links:
Tuberous sclerosis database (TSC1): TSC1_00032; dbSNP: rs118203418
NCBI 1000 Genomes Browser:
rs118203418
Molecular consequence:
  • NM_000368.5:c.654dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162426.2:c.654dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162427.2:c.501dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362177.2:c.291dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000066117Tuberous sclerosis database (TSC1)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedcuration

Citations

PubMed

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S.

Ann Hum Genet. 1998 May;62(Pt 3):203-13.

PubMed [citation]
PMID:
9803264

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Ali JB, Sepp T, Ward S, Green AJ, Yates JR.

J Med Genet. 1998 Dec;35(12):969-72.

PubMed [citation]
PMID:
9863590
PMCID:
PMC1051505

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000066117.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022