U.S. flag

An official website of the United States government

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000491852.3

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000579943Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)
Pathogenic
(Apr 5, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.

BMC Med Genet. 2006 Sep 18;7:72.

PubMed [citation]
PMID:
16981987
PMCID:
PMC1592085

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.

Ding Y, Wang J, Zhou S, Zhou Y, Zhang L, Yu L, Wang Y.

Front Genet. 2020;11:204. doi: 10.3389/fgene.2020.00204.

PubMed [citation]
PMID:
32211034
PMCID:
PMC7076134
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000579943.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The p.R786* pathogenic mutation (also known as c.2356C>T), located in coding exon 16 of the TSC1 gene, results from a C to T substitution at nucleotide position 2356. This changes the amino acid from an arginine to a stop codon within coding exon 16. This mutation has been detected in both sporadic and familial tuberous sclerosis complex (TSC) cases (van Slegtenhorst M et al. Science. 1997 Aug;277:805-8; Hung CC et al. BMC Med. Genet. 2006 Sep;7:72). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024