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NM_000548.5(TSC2):c.5247dup (p.Leu1750fs) 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:
RCV000055581.1

Allele description [Variation Report for NM_000548.5(TSC2):c.5247dup (p.Leu1750fs)]

NM_000548.5(TSC2):c.5247dup (p.Leu1750fs)

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.5247dup (p.Leu1750fs)
HGVS:
  • NC_000016.10:g.2088313dup
  • NG_005895.1:g.44008dup
  • NG_008617.1:g.54909dup
  • NM_000548.5:c.5247dupMANE SELECT
  • NM_001077183.3:c.5046dup
  • NM_001114382.3:c.5178dup
  • NM_001318827.2:c.4938dup
  • NM_001318829.2:c.4902dup
  • NM_001318831.2:c.4515dup
  • NM_001318832.2:c.5079dup
  • NM_001363528.2:c.5049dup
  • NM_001370404.1:c.5115dup
  • NM_001370405.1:c.5106dup
  • NM_021055.3:c.5118dup
  • NP_000539.2:p.Leu1750fs
  • NP_001070651.1:p.Leu1683fs
  • NP_001107854.1:p.Leu1727fs
  • NP_001305756.1:p.Leu1647fs
  • NP_001305758.1:p.Leu1635fs
  • NP_001305760.1:p.Leu1506fs
  • NP_001305761.1:p.Leu1694fs
  • NP_001350457.1:p.Leu1684fs
  • NP_001357333.1:p.Leu1706fs
  • NP_001357334.1:p.Leu1703fs
  • NP_066399.2:p.Leu1707fs
  • LRG_487:g.44008dup
  • NC_000016.9:g.2138314dup
  • p.(Leu1750Alafs*25)
Protein change:
L1506fs
Links:
Tuberous sclerosis database (TSC2): TSC2_02079; dbSNP: rs397515109
NCBI 1000 Genomes Browser:
rs397515109
Molecular consequence:
  • NM_000548.5:c.5247dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.5178dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.4938dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.4902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318831.2:c.4515dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.5079dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.5115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.5106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.5118dup - 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
SCV000083805Tuberous sclerosis database (TSC2)
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 providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A.

Eur J Hum Genet. 2005 Jun;13(6):731-41.

PubMed [citation]
PMID:
15798777

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Erratum in: Hum Mutat. 2013 Feb;34(2):408-10. van Eeghen, Agnies M [added]; Thiele, Elizabeth A [added].

PubMed [citation]
PMID:
22903760

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000083805.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

Definite TSC

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024