NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) AND FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB

Clinical significance:Pathogenic (Last evaluated: Nov 5, 2012)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000005409.1

Allele description [Variation Report for NM_000368.4(TSC1):c.2194C>T (p.His732Tyr)]

Gene:
TSC1:tuberous sclerosis 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr)
HGVS:
  • NC_000009.12:g.132903665G>A
  • NG_012386.1:g.45969C>T
  • NM_000368.4:c.2194C>T
  • NP_000359.1:p.His732Tyr
  • NC_000009.11:g.135779052G>A
  • NM_000368.3:c.2194C>T
  • p.H732Y
  • p.H732Y:CAT>TAT
  • p.(His732Tyr)
Protein change:
H732Y; HIS732TYR
Links:
Tuberous sclerosis database (TSC1): TSC1_00144; OMIM: 605284.0007; dbSNP: 118203657
NCBI 1000 Genomes Browser:
rs118203657
Allele Frequency:
0.0027, GO-ESP
Molecular consequence:
  • NM_000368.4:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB
Identifiers:
MedGen: C1846389

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000025591OMIMPathogenic
(Nov 5, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Bl├╝mcke I.

Ann Neurol. 2002 Jul;52(1):29-37.

PubMed [citation]
PMID:
12112044

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.

Hum Mol Genet. 1997 Nov;6(12):2155-61.

PubMed [citation]
PMID:
9328481
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025591.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Becker et al. (2002) showed that an amino acid change in residue 732 of hamartin from histidine to tyrosine (H732Y) was present in 14 of 40 (35%) cases of focal cortical dysplasia of the Taylor balloon cell type (see 607341) as compared with 2 of 200 (1%) controls. The change was produced by a C-to-T transition at nucleotide 2415 in exon 17 of the TSC1 gene. Exon 17 was the site of a number of other polymorphisms associated with focal cortical dysplasia, as were exons 14 and 22. The H732Y mutation had been previously observed at low frequencies in tuberous sclerosis (191100) and in unaffected individuals (Jones et al., 1997; van Slegtenhorst et al., 1999). Becker et al. (2002) interpreted the change and others as germline polymorphisms that predispose toward the cerebral lesion when combined with LOH in the other allele. The H732T substitution is located in a region of the hamartin protein involved in the interaction domain with tuberin, the product of the TSC2 gene (191092).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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