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NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter) 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:
RCV000042947.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter)]

NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter)
HGVS:
  • NC_000016.10:g.2070576C>T
  • NG_005895.1:g.26271C>T
  • NM_000548.5:c.1837C>TMANE SELECT
  • NM_001077183.3:c.1837C>T
  • NM_001114382.3:c.1837C>T
  • NM_001318827.2:c.1726C>T
  • NM_001318829.2:c.1690C>T
  • NM_001318831.2:c.1237C>T
  • NM_001318832.2:c.1870C>T
  • NM_001363528.2:c.1837C>T
  • NM_001370404.1:c.1837C>T
  • NM_001370405.1:c.1837C>T
  • NM_021055.3:c.1837C>T
  • NP_000539.2:p.Gln613Ter
  • NP_001070651.1:p.Gln613Ter
  • NP_001107854.1:p.Gln613Ter
  • NP_001305756.1:p.Gln576Ter
  • NP_001305758.1:p.Gln564Ter
  • NP_001305760.1:p.Gln413Ter
  • NP_001305761.1:p.Gln624Ter
  • NP_001350457.1:p.Gln613Ter
  • NP_001357333.1:p.Gln613Ter
  • NP_001357334.1:p.Gln613Ter
  • NP_066399.2:p.Gln613Ter
  • LRG_487t1:c.1837C>T
  • LRG_487:g.26271C>T
  • NC_000016.9:g.2120577C>T
  • NM_000548.3:c.1837C>T
  • p.(Gln613*)
Protein change:
Q413*
Links:
Tuberous sclerosis database (TSC2): TSC2_00734; dbSNP: rs45480292
NCBI 1000 Genomes Browser:
rs45480292
Molecular consequence:
  • NM_000548.5:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077183.3:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114382.3:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318827.2:c.1726C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318829.2:c.1690C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318831.2:c.1237C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318832.2:c.1870C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363528.2:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370404.1:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370405.1:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021055.3:c.1837C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066744Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066744.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024