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NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del) 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:
RCV000042585.3

Allele description [Variation Report for NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)]

NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)

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.4839CAT[1] (p.Ile1614del)
HGVS:
  • NC_000016.10:g.2086369CAT[1]
  • NG_005895.1:g.42064CAT[1]
  • NM_000548.5:c.4839CAT[1]MANE SELECT
  • NM_001077183.3:c.4638CAT[1]
  • NM_001114382.3:c.4770CAT[1]
  • NM_001318827.2:c.4530CAT[1]
  • NM_001318829.2:c.4494CAT[1]
  • NM_001318831.2:c.4107CAT[1]
  • NM_001318832.2:c.4671CAT[1]
  • NM_001363528.2:c.4641CAT[1]
  • NM_001370404.1:c.4707CAT[1]
  • NM_001370405.1:c.4710CAT[1]
  • NM_021055.3:c.4710CAT[1]
  • NP_000539.2:p.Ile1614del
  • NP_001070651.1:p.Ile1547del
  • NP_001107854.1:p.Ile1591del
  • NP_001305756.1:p.Ile1511del
  • NP_001305758.1:p.Ile1499del
  • NP_001305760.1:p.Ile1370del
  • NP_001305761.1:p.Ile1558del
  • NP_001350457.1:p.Ile1548del
  • NP_001357333.1:p.Ile1570del
  • NP_001357334.1:p.Ile1571del
  • NP_066399.2:p.Ile1571del
  • LRG_487:g.42064CAT[1]
  • NC_000016.9:g.2136370CAT[1]
  • NC_000016.9:g.2136370_2136372del
  • NM_000548.3:c.4842_4844delCAT
  • NM_000548.5:c.4842_4844delMANE SELECT
  • p.(Ile1614del)
Protein change:
I1370del
Links:
Tuberous sclerosis database (TSC2): TSC2_00118; dbSNP: rs137854331
NCBI 1000 Genomes Browser:
rs137854331
Molecular consequence:
  • NM_000548.5:c.4839CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001077183.3:c.4638CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001114382.3:c.4770CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001318827.2:c.4530CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001318829.2:c.4494CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001318831.2:c.4107CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001318832.2:c.4671CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001363528.2:c.4641CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370404.1:c.4707CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370405.1:c.4710CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_021055.3:c.4710CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000066379Tuberous 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 providedgermlineyes6not providednot providednot providednot providedcuration

Citations

PubMed

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H.

Genet Med. 2007 Feb;9(2):88-100.

PubMed [citation]
PMID:
17304050

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H.

Am J Hum Genet. 1998 Feb;62(2):286-94.

PubMed [citation]
PMID:
9463313
PMCID:
PMC1376882

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066379.3

#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: Sep 29, 2024