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NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs) 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:
RCV000055154.2

Allele description [Variation Report for NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs)]

NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs)
HGVS:
  • NC_000016.10:g.2084660_2084661insA
  • NG_005895.1:g.40355_40356insA
  • NM_000548.5:c.4438_4439insAMANE SELECT
  • NM_001077183.3:c.4237_4238insA
  • NM_001114382.3:c.4369_4370insA
  • NM_001318827.2:c.4129_4130insA
  • NM_001318829.2:c.4093_4094insA
  • NM_001318831.2:c.3706_3707insA
  • NM_001318832.2:c.4270_4271insA
  • NM_001363528.2:c.4240_4241insA
  • NM_001370404.1:c.4306_4307insA
  • NM_001370405.1:c.4309_4310insA
  • NM_021055.3:c.4309_4310insA
  • NP_000539.2:p.Leu1480fs
  • NP_001070651.1:p.Leu1413fs
  • NP_001107854.1:p.Leu1457fs
  • NP_001305756.1:p.Leu1377fs
  • NP_001305758.1:p.Leu1365fs
  • NP_001305760.1:p.Leu1236fs
  • NP_001305761.1:p.Leu1424fs
  • NP_001350457.1:p.Leu1414fs
  • NP_001357333.1:p.Leu1436fs
  • NP_001357334.1:p.Leu1437fs
  • NP_066399.2:p.Leu1437fs
  • LRG_487t1:c.4438_4439insA
  • LRG_487:g.40355_40356insA
  • NC_000016.9:g.2134661_2134662insA
  • NM_000548.3:c.4438_4439insA
  • p.(Leu1480Tyrfs*44)
Protein change:
L1236fs
Links:
Tuberous sclerosis database (TSC2): TSC2_02038; dbSNP: rs397514963
NCBI 1000 Genomes Browser:
rs397514963
Molecular consequence:
  • NM_000548.5:c.4438_4439insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.4237_4238insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.4369_4370insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.4129_4130insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.4093_4094insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318831.2:c.3706_3707insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.4270_4271insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.4240_4241insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.4306_4307insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.4309_4310insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.4309_4310insA - 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
SCV000083372Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

Tsai TS, Huang MY, Chang YT, Wang CY, Lin JL, Hung PC, Lin SP, Sun CF, Wang WS, Chang CM, Chang SC, Chu DC.

Genet Test Mol Biomarkers. 2011 Jun;15(6):415-21. doi: 10.1089/gtmb.2010.0133. Epub 2011 Apr 21.

PubMed [citation]
PMID:
21510812

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000083372.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022