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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

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

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