NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) 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:
RCV000042194.3

Allele description [Variation Report for NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)]

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
HGVS:
  • NC_000009.12:g.132902640G>A
  • NG_012386.1:g.46994C>T
  • NM_000368.5:c.2356C>TMANE SELECT
  • NM_001162426.2:c.2353C>T
  • NM_001162427.2:c.2203C>T
  • NM_001362177.2:c.1993C>T
  • NP_000359.1:p.Arg786Ter
  • NP_000359.1:p.Arg786Ter
  • NP_001155898.1:p.Arg785Ter
  • NP_001155899.1:p.Arg735Ter
  • NP_001349106.1:p.Arg665Ter
  • LRG_486t1:c.2356C>T
  • LRG_486:g.46994C>T
  • LRG_486p1:p.Arg786Ter
  • NC_000009.11:g.135778027G>A
  • NM_000368.3:c.2356C>T
  • NM_000368.4:c.2356C>T
  • p.R785X
  • p.(Arg786*)
  • p.Arg786*
Protein change:
R665*
Links:
Tuberous sclerosis database (TSC1): TSC1_00156; dbSNP: rs118203682
NCBI 1000 Genomes Browser:
rs118203682
Molecular consequence:
  • NM_000368.5:c.2356C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162426.2:c.2353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162427.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362177.2:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065980Tuberous sclerosis database (TSC1)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)
not providedgermlinecuration

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes19not providednot providednot providednot providedcuration

Citations

PubMed

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A.

J Med Genet. 1999 Apr;36(4):285-9.

PubMed [citation]
PMID:
10227394
PMCID:
PMC1734341

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ.

Ann Hum Genet. 1998 Nov;62(Pt 6):491-504.

PubMed [citation]
PMID:
10363127
See all PubMed Citations (12)

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000065980.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (12)

Description

Definite TSC

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024