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NM_000548.5(TSC2):c.5197dup (p.Thr1733fs) 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:
RCV000042621.3

Allele description [Variation Report for NM_000548.5(TSC2):c.5197dup (p.Thr1733fs)]

NM_000548.5(TSC2):c.5197dup (p.Thr1733fs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs)
HGVS:
  • NC_000016.10:g.2088263dup
  • NG_005895.1:g.43958dup
  • NG_008617.1:g.54958dup
  • NM_000548.5:c.5197dupMANE SELECT
  • NM_001077183.3:c.4996dup
  • NM_001114382.3:c.5128dup
  • NM_001318827.2:c.4888dup
  • NM_001318829.2:c.4852dup
  • NM_001318831.2:c.4465dup
  • NM_001318832.2:c.5029dup
  • NM_001363528.2:c.4999dup
  • NM_001370404.1:c.5065dup
  • NM_001370405.1:c.5056dup
  • NM_021055.3:c.5068dup
  • NP_000539.2:p.Thr1733fs
  • NP_001070651.1:p.Thr1666fs
  • NP_001107854.1:p.Thr1710fs
  • NP_001305756.1:p.Thr1630fs
  • NP_001305758.1:p.Thr1618fs
  • NP_001305760.1:p.Thr1489fs
  • NP_001305761.1:p.Thr1677fs
  • NP_001350457.1:p.Thr1667fs
  • NP_001357333.1:p.Thr1689fs
  • NP_001357334.1:p.Thr1686fs
  • NP_066399.2:p.Thr1690fs
  • LRG_487t1:c.5197dup
  • LRG_487:g.43958dup
  • NC_000016.9:g.2138264dup
  • NM_000548.3:c.5197dupA
  • p.(Thr1733Asnfs*42)
Protein change:
T1489fs
Links:
Tuberous sclerosis database (TSC2): TSC2_00737; dbSNP: rs137854414
NCBI 1000 Genomes Browser:
rs137854414
Molecular consequence:
  • NM_000548.5:c.5197dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.4996dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.5128dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.4888dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.4852dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318831.2:c.4465dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.5029dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.4999dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.5065dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.5056dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.5068dup - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066415Tuberous 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), SCV000066415.3

#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