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NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 5, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000519452.6

Allele description

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255857Athena Diagnostics Inc
criteria provided, single submitter

(Athena Diagnostics Criteria)
Pathogenic
(Jun 10, 2015)
germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

SCV000616904GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Aug 5, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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 (11)

Details of each submission

From Athena Diagnostics Inc, SCV000255857.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000616904.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously multiple times in association with tuberous sclerosis complex (van Slegtenhorst et al., 1997; Au et al., 2007; TSC1 LOVD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11112665, 16981987, 9328481, 29476190, 32532290, 25525159, 9242607, 9924605, 10363127, 9803264, 9863590, 10227394, 10533067, 25498131, 15798777, 17304050, 30693677, 32211034, 32313033, 32238909, 31031587, 30787465, 34480426, 34849272, 31377847)

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

Last Updated: Mar 5, 2024