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NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp) 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:
RCV000042930.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp)]

NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp)
HGVS:
  • NC_000016.10:g.2061970T>G
  • NG_005895.1:g.17665T>G
  • NM_000548.5:c.1219T>GMANE SELECT
  • NM_001077183.3:c.1219T>G
  • NM_001114382.3:c.1219T>G
  • NM_001318827.2:c.1108T>G
  • NM_001318829.2:c.1072T>G
  • NM_001318831.2:c.619T>G
  • NM_001318832.2:c.1252T>G
  • NM_001363528.2:c.1219T>G
  • NM_001370404.1:c.1219T>G
  • NM_001370405.1:c.1219T>G
  • NM_021055.3:c.1219T>G
  • NP_000539.2:p.Tyr407Asp
  • NP_001070651.1:p.Tyr407Asp
  • NP_001107854.1:p.Tyr407Asp
  • NP_001305756.1:p.Tyr370Asp
  • NP_001305758.1:p.Tyr358Asp
  • NP_001305760.1:p.Tyr207Asp
  • NP_001305761.1:p.Tyr418Asp
  • NP_001350457.1:p.Tyr407Asp
  • NP_001357333.1:p.Tyr407Asp
  • NP_001357334.1:p.Tyr407Asp
  • NP_066399.2:p.Tyr407Asp
  • LRG_487t1:c.1219T>G
  • LRG_487:g.17665T>G
  • NC_000016.9:g.2111971T>G
  • NM_000548.3:c.1219T>G
  • P49815:p.Tyr407Asp
  • p.(Tyr407Asp)
Protein change:
Y207D
Links:
Tuberous sclerosis database (TSC2): TSC2_00126; UniProtKB: P49815#VAR_005647; dbSNP: rs45517156
NCBI 1000 Genomes Browser:
rs45517156
Molecular consequence:
  • NM_000548.5:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.1108T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.1072T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.619T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.1252T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.1219T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000066727Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedcuration

Citations

PubMed

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ.

Ann Hum Genet. 1999 Sep;63(Pt 5):383-91.

PubMed [citation]
PMID:
10735580

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.

Am J Hum Genet. 2001 Jan;68(1):64-80. Epub 2000 Dec 8.

PubMed [citation]
PMID:
11112665
PMCID:
PMC1234935
See all PubMed Citations (3)

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066727.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022