U.S. flag

An official website of the United States government

NM_000368.5(TSC1):c.1959dup (p.Gln654fs) 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:
RCV000042108.2

Allele description

NM_000368.5(TSC1):c.1959dup (p.Gln654fs)

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.1959dup (p.Gln654fs)
HGVS:
  • NC_000009.12:g.132905619dup
  • NG_012386.1:g.44015dup
  • NM_000368.5:c.1959dupMANE SELECT
  • NM_001162426.2:c.1956dup
  • NM_001162427.2:c.1806dup
  • NM_001362177.2:c.1596dup
  • NP_000359.1:p.Gln654fs
  • NP_001155898.1:p.Gln653fs
  • NP_001155899.1:p.Gln603fs
  • NP_001349106.1:p.Gln533fs
  • LRG_486:g.44015dup
  • NC_000009.11:g.135781005_135781006insT
  • NC_000009.11:g.135781006dup
  • NM_000368.3:c.1959dupA
  • NM_000368.4:c.1959dupA
  • p.(Gln654Thrfs*34)
Protein change:
Q533fs
Links:
Tuberous sclerosis database (TSC1): TSC1_00121; dbSNP: rs118203603
NCBI 1000 Genomes Browser:
rs118203603
Molecular consequence:
  • NM_000368.5:c.1959dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162426.2:c.1956dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162427.2:c.1806dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362177.2:c.1596dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065892Tuberous 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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedcuration

Citations

PubMed

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.

BMC Med Genet. 2006 Sep 18;7:72.

PubMed [citation]
PMID:
16981987
PMCID:
PMC1592085

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H.

Genet Med. 2007 Feb;9(2):88-100.

PubMed [citation]
PMID:
17304050

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000065892.3

#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: May 10, 2021