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NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs) 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:
RCV000043327.2

Allele description

NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
HGVS:
  • NC_000016.10:g.2084400CT[1]
  • NG_005895.1:g.40095CT[1]
  • NM_000548.5:c.4180_4181delMANE SELECT
  • NM_001077183.3:c.3979_3980del
  • NM_001114382.3:c.4111_4112del
  • NM_001318827.2:c.3871_3872del
  • NM_001318829.2:c.3835_3836del
  • NM_001318831.2:c.3448_3449del
  • NM_001318832.2:c.4012_4013del
  • NM_001363528.2:c.3982_3983del
  • NM_001370404.1:c.4048_4049del
  • NM_001370405.1:c.4051_4052del
  • NM_021055.3:c.4051_4052del
  • NP_000539.2:p.Leu1394fs
  • NP_001070651.1:p.Leu1327fs
  • NP_001107854.1:p.Leu1371fs
  • NP_001305756.1:p.Leu1291fs
  • NP_001305758.1:p.Leu1279fs
  • NP_001305760.1:p.Leu1150fs
  • NP_001305761.1:p.Leu1338fs
  • NP_001350457.1:p.Leu1328fs
  • NP_001357333.1:p.Leu1350fs
  • NP_001357334.1:p.Leu1351fs
  • NP_066399.2:p.Leu1351fs
  • LRG_487:g.40095CT[1]
  • NC_000016.9:g.2134401CT[1]
  • p.(Leu1394Alafs*19)
Protein change:
L1150fs
Links:
Tuberous sclerosis database (TSC2): TSC2_00565; dbSNP: rs137854363
NCBI 1000 Genomes Browser:
rs137854363
Molecular consequence:
  • NM_000548.5:c.4180_4181del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.3979_3980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.4111_4112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.3871_3872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.3835_3836del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318831.2:c.3448_3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.4012_4013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.3982_3983del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.4048_4049del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.4051_4052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.4051_4052del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000067133Tuberous 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 providedgermlineyes5not providednot providednot providednot providedcuration

Citations

PubMed

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

Yamashita Y, Ono J, Okada S, Wataya-Kaneda M, Yoshikawa K, Nishizawa M, Hirayama Y, Kobayashi E, Seyama K, Hino O.

Am J Med Genet. 2000 Jan 17;90(2):123-6.

PubMed [citation]
PMID:
10607950

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Choi JE, Chae JH, Hwang YS, Kim KJ.

Brain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.

PubMed [citation]
PMID:
16554133

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000067133.3

#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: Aug 14, 2021