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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 18, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000415379.2

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:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Cardiac rhabdomyoma
Identifiers:
MONDO: MONDO:0006123; MedGen: C1332852; Human Phenotype Ontology: HP:0009729
Name:
Hamartoma
Identifiers:
MONDO: MONDO:0006499; MedGen: C0018552; Human Phenotype Ontology: HP:0010566

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492663Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Pathogenic
(Jan 18, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492663.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024